Please note our website will be undergoing maintenance on Tuesday, May 28, 2024. e-Commerce transactions and new registrations will be temporarily unavailable during this time. We apologize for any inconvenience this may cause.
Open access

Epstein–Barr virus infection in primary immunodeficiency

Publication: LymphoSign Journal
28 September 2018

Abstract

Primary immunodeficiency (PID) is a group of genetic disorders which affects immune cell development, differentiation, and function. The affected individuals are highly susceptible to infection by a diverse array of pathogens. Epstein–Barr virus (EBV) infection is ubiquitous in humans and usually involves an asymptomatic or self-limiting clinical course. In rare cases, EBV can cause not only an acute infection but also a severe exaggerated immune response and lymphoproliferative disease.
Furthermore, EBV infection in patients with PID can lead to immune dysregulation and increased risk of malignancies, in addition to the severe course of the acute infection. Recognition of the different genetic defects and their effect on immunological pathways provide us with fundamental insights into the pathophysiology of EBV infection and associated disease, and may lead to developing better targeted therapies in the future. Here, we review all of PIDs with an abnormal response to EBV disease.
Statement of novelty: Here we provide a review of the current knowledge of all PIDs reported to be associated with abnormal response to EBV infection and associated disease, such as hemophagocytic lymphohistiocytosis.

Formats available

You can view the full content in the following formats:

Declaration of funding: The authors have no conflict of interest to disclose.

REFERENCES

Abdollahpour H., Appaswamy G., Kotlarz D., Diestelhorst J., Beier R., Schaffer A.A., Gertz E.M., Schambach A., Kreipe H.H., Pfeifer D., Engelhardt K.R., Rezaei N., Grimbacher B., Lohrmann S., Sherkat R., and Klein C. 2012. The phenotype of human STK4 deficiency. Blood, 119(15):3450–3457.
Abolhassani H., Edwards E.S.J., Ikinciogullari A., Jing H., Borte S., Buggert M., Du L., Matsuda-Lennikov M., Romano R., Caridha R., Bade S., Zhang Y., Frederiksen J., Fang M., Bal S.K., Haskologlu S., Dogu F., Tacyildiz N., Matthews H.F., McElwee J.J., Gostick E., Price D.A., Palendira U., Aghamohammadi A., Boisson B., Rezaei N., Karlsson A.C., Lenardo M.J., Casanova J.-L., Hammarström L., Tangye S.G., Su H.C., and Pan-Hammarström Q. 2017. Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. J. Exp. Med. 214(1):91–106.
Aguilar C. and Latour S. 2015. X-linked inhibitor of apoptosis protein deficiency: More than an X-linked lymphoproliferative syndrome. J. Clin. Immunol. 35(4):331–338.
Alangari A., Alsultan A., Adly N., Massaad M.J., Kiani I.S., Aljebreen A., Raddaoui E., Almomen A.-K., Al-Muhsen S., Geha R.S., and Alkuraya F.S. 2012. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J. Allergy Clin. Immunol. 130(2):481–488.e2.
Alazami A.M., Al-Helale M., Alhissi S., Al-Saud B., Alajlan H., Monies D., Shah Z., Abouelhoda M., Arnaout R., Al-Dhekri H., Al-Numair N.S., Ghebeh H., Sheikh F., and Al-Mousa H. 2018. Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency. Front. Immunol. 9:203.
Alkhairy O.K., Perez-Becker R., Driessen G.J., Abolhassani H., van Montfrans J., Borte S., Choo S., Wang N., Tesselaar K., Fang M., Bienemann K., Boztug K., Daneva A., Mechinaud F., Wiesel T., Becker C., Dückers G., Siepermann K., van Zelm M.C., Rezaei N., van der Burg M., Aghamohammadi A., Seidel M.G., Niehues T., and Hammarström L. 2015. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J. Allergy Clin. Immunol. 136(3):703–712.e10.
Alkhairy O.K., Abolhassani H., Rezaei N., Fang M., Andersen K.K., Chavoshzadeh Z., Mohammadzadeh I., El-Rajab M.A., Massaad M., Chou J., Aghamohammadi A., Geha R.S., and Hammarström L. 2016. Spectrum of Phenotypes Associated with Mutations in LRBA. J. Clin. Immunol. 36(1):33–45.
Angulo I., Vadas O., Garcon F., Banham-Hall E., Plagnol V., Leahy T.R., Baxendale H., Coulter T., Curtis J., Wu C., Blake-Palmer K., Perisic O., Smyth D., Maes M., Fiddler C., Juss J., Cilliers D., Markelj G., Chandra A., Farmer G., Kielkowska A., Clark J., Kracker S., Debre M., Picard C., Pellier I., Jabado N., Morris J.A., Barcenas-Morales G., Fischer A., Stephens L., Hawkins P., Barrett J.C., Abinun M., Clatworthy M., Durandy A., Doffinger R., Chilvers E.R., Cant A.J., Kumararatne D., Okkenhaug K., Williams R.L., Condliffe A., and Nejentsev S. 2013. Phosphoinositide 3-Kinase gene mutation predisposes to respiratory infection and airway damage. Science, 342(6160):866–871.
Au-Yeung B.B., Deindl S., Hsu L.-Y., Palacios E.H., Levin S.E., Kuriyan J., and Weiss A. 2009. The structure, regulation, and function of ZAP-70. Immunol. Rev. 228(1):41–57.
Azizi G., Abolhassani H., Mahdaviani S.A., Chavoshzadeh Z., Eshghi P., Yazdani R., Kiaee F., Shaghaghi M., Mohammadi J., Rezaei N., Hammarström L., and Aghamohammadi A. 2017. Clinical, immunologic, molecular analyses and outcomes of Iranian patients with LRBA deficiency: A longitudinal study. Pediatr. Allergy Immunol. 28(5):478–484.
Bachelerie F. 2010. CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome. Dis. Markers, 29(3–4):189–198.
Balabanian K., Lagane B., Pablos J.L., Laurent L., Planchenault T., Verola O., Lebbe C., Kerob D., Dupuy A., Hermine O., Nicolas J.-F., Latger-Cannard V., Bensoussan D., Bordigoni P., Baleux F., Le Deist F., Virelizier J.-L., Arenzana-Seisdedos F., and Bachelerie F. 2005. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood, 105(6):2449–2457.
Bienemann K., Borkhardt A., Klapper W., and Oschlies I. 2015. High incidence of Epstein-Barr virus (EBV)-positive Hodgkin lymphoma and Hodgkin lymphoma-like B-cell lymphoproliferations with EBV latency profile 2 in children with interleukin-2-inducible T-cell kinase deficiency. Histopathology, 67(5):607–616.
Bode S.F., Ammann S., Al-Herz W., Bataneant M., Dvorak C.C., Gehring S., Gennery A., Gilmour K.C., Gonzalez-Granado L.I., Gross-Wieltsch U., Ifversen M., Lingman-Framme J., Matthes-Martin S., Mesters R., Meyts I., van Montfrans J.M., Schmid J.P., Pai S.-Y., Soler-Palacin P., Schuermann U., Schuster V., Seidel M.G., Speckmann C., Stepensky P., Sykora K.-W., Tesi B., Vraetz T., Waruiru C., Bryceson Y.T., Moshous D., Lehmberg K., Jordan M.B., Ehl S., and Inborn Errors Working Party of the EBMT. 2015. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: Implications for differential diagnosis and pathogenesis. Haematologica, 100(7):978–988.
Booth C., Gilmour K.C., Veys P., Gennery A.R., Slatter M.A., Chapel H., Heath P.T., Steward C.G., Smith O., O’Meara A., Kerrigan H., Mahlaoui N., Cavazzana-Calvo M., Fischer A., Moshous D., Blanche S., Pachlopnik Schmid J., Latour S., de Saint-Basile G., Albert M., Notheis G., Rieber N., Strahm B., Ritterbusch H., Lankester A., Hartwig N.G., Meyts I., Plebani A., Soresina A., Finocchi A., Pignata C., Cirillo E., Bonanomi S., Peters C., Kalwak K., Pasic S., Sedlacek P., Jazbec J., Kanegane H., Nichols K.E., Hanson I.C., Kapoor N., Haddad E., Cowan M., Choo S., Smart J., Arkwright P.D., Gaspar H.B., and Gaspar H.B. 2011. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: A multicenter study on the manifestations, management and outcome of the disease. Blood, 117(1):53–62.
Borst J., Hendriks J., and Xiao Y. 2005. CD27 and CD70 in T cell and B cell activation. Curr. Opinion Immunol. 17(3):275–281.
Boztug H., Hirschmugl T., Holter W., Lakatos K., Kager L., Trapin D., Pickl W., Förster-Waldl E., and Boztug K. 2016. NF-κB1 haploinsufficiency causing immunodeficiency and EBV-driven lymphoproliferation. J. Clin. Immunol. 36(6):533–540.
Çağdaş D., Erman B., Hanoğlu D., Tavil B., Kuşkonmaz B., Aydın B., Akyüz C., Uçkan D., Sanal Ö., and Tezcan I. 2017. Course of IL-2-inducible T-cell kinase deficiency in a family: Lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other. Bone Marrow Transplant. 52(1):126–129.
Caorsi R., Rusmini M., Volpi S., Chiesa S., Pastorino C., Sementa A.R., Uva P., Grossi A., Lanino E., Faraci M., Minoia F., Signa S., Picco P., Martini A., Ceccherini I., and Gattorno M. 2018. CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever. Front. Immunol. 8:2015.
Carpier J.-M. and Lucas C.L. 2017. Epstein-Barr virus susceptibility in activated PI3Kδ syndrome (APDS) immunodeficiency. Front. Immunol. 8:2005.
Chae K.M., Ertle J.O., and Tharp M.D. 2001. B-cell lymphoma in a patient with WHIM syndrome. J. Am. Acad. Dermatol. 44(1):124–128.
Chaigne-Delalande B., Li F.-Y., O’Connor G.M., Lukacs M.J., Jiang P., Zheng L., Shatzer A., Biancalana M., Pittaluga S., Matthews H.F., Jancel T.J., Bleesing J.J., Marsh R.A., Kuijpers T.W., Nichols K.E., Lucas C.L., Nagpal S., Mehmet H., Su H.C., Cohen J.I., Uzel G., and Lenardo M.J. 2013. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science, 341(6142):186–191.
Cherepanova N., Shrimal S., and Gilmore R. 2016. N-linked glycosylation and homeostasis of the endoplasmic reticulum. Curr. Opinion Cell Biol. 41:57–65.
Chopra C., Davies G., Taylor M., Anderson M., Bainbridge S., Tighe P., and McDermott E.M. 2014. Immune deficiency in Ataxia-Telangiectasia: A longitudinal study of 44 patients. Clin. Exp. Immunol. 176(2):275–282.
Cipe F.E., Aydogmus C., Serwas N.K., Tuğcu D., Demirkaya M., Biçici F.A., Hocaoglu A.B., Doğu F., and Boztuğ K. 2015. ITK deficiency: How can EBV be treated before Lymphoma? Pediatr. Blood Cancer, 62(12):2247–2248.
Cocks B.G., Chang C.-C.J., Carballido J.M., Yssel H., de Vries J.E., and Aversa G. 1995. A novel receptor involved in T-cell activation. Nature, 376(6537):260–263.
Coffey A.J., Brooksbank R.A., Brandau O., Oohashi T., Howell G.R., Bye J.M., Cahn A.P., Durham J., Heath P., Wray P., Pavitt R., Wilkinson J., Leversha M., Huckle E., Shaw-Smith C.J., Dunham A., Rhodes S., Schuster V., Porta G., Yin L., Serafini P., Sylla B., Zollo M., Franco B., Bolino A., Seri M., Lanyi A., Davis J.R., Webster D., Harris A., Lenoir G., de St Basile G., Jones A., Behloradsky B.H., Achatz H., Murken J., Fassler R., Sumegi J., Romeo G., Vaudin M., Ross M.T., Meindl A., and Bentley D.R. 1998. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat. Genet. 20(2):129–135.
Cohen J.I. 2015. Primary immunodeficiencies associated with EBV disease. Curr. Top. Microbiol. Immunol. 390(Pt 1):241–265.
Cohen J.I., Jaffe E.S., Dale J.K., Pittaluga S., Heslop H.E., Rooney C.M., Gottschalk S., Bollard C.M., Rao V.K., Marques A., Burbelo P.D., Turk S.-P., Fulton R., Wayne A.S., Little R.F., Cairo M.S., El-Mallawany N.K., Fowler D., Sportes C., Bishop M.R., Wilson W., and Straus S.E. 2011. Characterization and treatment of chronic active Epstein-Barr virus disease: A 28-year experience in the United States. Blood, 117(22):5835–5849.
Côte M., Ménager M.M., Burgess A., Mahlaoui N., Picard C., Schaffner C., Al-Manjomi F., Al-Harbi M., Alangari A., Le Deist F., Gennery A.R., Prince N., Cariou A., Nitschke P., Blank U., El-Ghazali G., Ménasché G., Latour S., Fischer A., and de Saint Basile G. 2009. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J. Clin. Invest. 119(12):3765–3773.
Dang T.S., Willet J.D., Griffin H.R., Morgan N.V., O’Boyle G., Arkwright P.D., Hughes S.M., Abinun M., Tee L.J., Barge D., Engelhardt K.R., Jackson M., Cant A.J., Maher E.R., Koref M.S., Reynard L.N., Ali S., and Hambleton S. 2016. Defective leukocyte adhesion and chemotaxis contributes to combined immunodeficiency in humans with autosomal recessive MST1 deficiency. J. Clin. Immunol. 36(2):117–122.
Deau M.-C., Heurtier L., Frange P., Suarez F., Bole-Feysot C., Nitschke P., Cavazzana M., Picard C., Durandy A., Fischer A., and Kracker S. 2014. A human immunodeficiency caused by mutations in the PIK3R1 gene. J. Clin. Invest. 124(9):3923–3928.
de Vries, E., Koene, H.R., Vossen, J.M., Gratama, J.W., von dem Borne, A.E., Waaijer, J.L., Haraldsson, A., de Haas, M., and van Tol, M.J. 1996. Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections. Blood, 88(8):3022–3027. Available from http://www.ncbi.nlm.nih.gov/pubmed/8874200.
Dotta, L., Tassone, L., and Badolato, R. 2011. Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome. Curr. Mol. Med. 11(4):317–325. Available from http://www.ncbi.nlm.nih.gov/pubmed/21506920.
Du S., Scuderi R., Malicki D.M., Willert J., Bastian J., and Weidner N. 2011. Hodgkin’s and non-Hodgkin’s lymphomas occurring in two brothers with Wiskott-Aldrich syndrome and review of the literature.’ Pediatr. Develop. Pathol. Off. J. Soc. Pediatr. Pathol. Paediatr. Pathol. Soc. 14(1):64–70.
Du X., Shi H., Li J., Dong Y., Liang J., Ye J., Kong S., Zhang S., Zhong T., Yuan Z., Xu T., Zhuang Y., Zheng B., Geng J.-G., and Tao W. 2014. Mst1/Mst2 regulate development and function of regulatory T cells through modulation of Foxo1/Foxo3 stability in autoimmune disease. J. Immunol. (Baltimore, Md. : 1950), 192(4):1525–1535.
Eidenschenk C., Dunne J., Jouanguy E., Fourlinnie C., Gineau L., Bacq D., McMahon C., Smith O., Casanova J.-L., Abel L., and Feighery C. 2006. A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. Am. J. Human Genet. 78(4):721–727.
Enders, A., Fisch, P., Schwarz, K., Duffner, U., Pannicke, U., Nikolopoulos, E., Peters, A., Orlowska-Volk, M., Schindler, D., Friedrich, W., Selle, B., Niemeyer, C., and Ehl, S. 2006. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J. Immunol. (Baltimore, Md. : 1950), 176(8):5060–5068. Available from http://www.ncbi.nlm.nih.gov/pubmed/16585603.
Filipovich A.H., Zhang K., Snow A.L., and Marsh R.A. 2010. X-linked lymphoproliferative syndromes: Brothers or distant cousins? Blood, 116(18):3398–3408.
Föger N., Rangell L., Danilenko D.M., and Chan A.C. 2006. Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis. Science (New York, N.Y.), 313(5788):839–842.
Gámez-Díaz L., August D., Stepensky P., Revel-Vilk S., Seidel M.G., Noriko M., Morio T., Worth A.J.J., Blessing J., Van de Veerdonk F., Feuchtinger T., Kanariou M., Schmitt-Graeff A., Jung S., Seneviratne S., Burns S., Belohradsky B.H., Rezaei N., Bakhtiar S., Speckmann C., Jordan M., and Grimbacher B. 2016. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J. Allergy Clin. Immunol. 137(1):223–230.
Ghosh S., Bienemann K., Boztug K., and Borkhardt A. 2014. Interleukin-2-inducible T-cell kinase (ITK) deficiency—clinical and molecular aspects. J. Clin. Immunol. 34(8):892–899.
Gineau L., Cognet C., Kara N., Lach F.P., Dunne J., Veturi U., Picard C., Trouillet C., Eidenschenk C., Aoufouchi S., Alcaïs A., Smith O., Geissmann F., Feighery C., Abel L., Smogorzewska A., Stillman B., Vivier E., Casanova J.-L., and Jouanguy E. 2012. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J. Clin. Invest. 122(3):821–832.
Gorlin, R.J., Gelb, B., Diaz, G.A., Lofsness, K.G., Pittelkow, M.R., and Fenyk, J.R. 2000. WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies. Ame. J. Med. Genet. 91(5):368–376. Available from http://www.ncbi.nlm.nih.gov/pubmed/10767001.
Grier J.T., Forbes L.R., Monaco-Shawver L., Oshinsky J., Atkinson T.P., Moody C., Pandey R., Campbell K.S., and Orange J.S. 2012. Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity. J. Clin. Invest. 122(10):3769–3780.
Gulley, M.L., Chen, C.L., and Raab-Traub, N. 1993. Epstein-Barr virus-related lymphomagenesis in a child with Wiskott-Aldrich syndrome. Hematol. Oncol. 11(3):139–145. Available at: http://www.ncbi.nlm.nih.gov/pubmed/8112728.
Halacli S.O., Ayvaz D.C., Sun-Tan C., Erman B., Uz E., Yilmaz D.Y., Ozgul K., Tezcan İ., and Sanal O. 2015. STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation. Clin. Immunol. 161(2):316–323.
Hintzen, R.Q., Lens, S.M., Koopman, G., Pals, S.T., Spits, H., and van Lier, R.A. 1994. CD70 represents the human ligand for CD27. Int. Immunol. 6(3):477–480. Available from http://www.ncbi.nlm.nih.gov/pubmed/8186199.
Hislop A.D., Palendira U., Leese A.M., Arkwright P.D., Rohrlich P.S., Tangye S.G., Gaspar H.B., Lankester A.C., Moretta A., and Rickinson A.B. 2010. Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. Blood, 116(17):3249–3257.
Hogquist, K. 2001. RasGRP: The missing link for Ras activation in thymocytes. Trends Immunol. 22(2):69. Available from http://www.ncbi.nlm.nih.gov/pubmed/11286697.
Hsu A.P., Sampaio E.P., Khan J., Calvo K.R., Lemieux J.E., Patel S.Y., Frucht D.M., Vinh D.C., Auth R.D., Freeman A.F., Olivier K.N., Uzel G., Zerbe C.S., Spalding C., Pittaluga S., Raffeld M., Kuhns D.B., Ding L., Paulson M.L., Marciano B.E., Gea-Banacloche J.C., Orange J.S., Cuellar-Rodriguez J., Hickstein D.D., and Holland S.M. 2011. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood, 118(10):2653–2655.
Huang J., Jochems C., Anderson A.M., Talaie T., Jales A., Madan R.A., Hodge J.W., Tsang K.Y., Liewehr D.J., Steinberg S.M., Gulley J.L., and Schlom J. 2013. Soluble CD27-pool in humans may contribute to T cell activation and tumor immunity. J. Immunol. (Baltimore, Md. : 1950), 190(12):6250–6258.
Huck, K., Feyen, O., Niehues, T., Rüschendorf, F., Hübner, N., Laws, H.-J., Telieps, T., Knapp, S., Wacker, H.-H., Meindl, A., Jumaa, H., and Borkhardt, A. 2009. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J. Clin. Invest. 119(5):1350–1358. Available from http://www.ncbi.nlm.nih.gov/pubmed/19425169.
Hughes C.R., Guasti L., Meimaridou E., Chuang C.-H., Schimenti J.C., King P.J., Costigan C., Clark A.J.L., and Metherell L.A. 2012. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J. Clin. Invest. 122(3):814–820.
Imashuku S., Miyagawa A., Chiyonobu T., Ishida H., Yoshihara T., Teramura T., Kuriyama K., Imamura T., Hibi S., Morimoto A., and Todo S. 2002. Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis. Ann. Hematol. 81(8):470–473.
Izawa K., Martin E., Soudais C., Bruneau J., Boutboul D., Rodriguez R., Lenoir C., Hislop A.D., Besson C., Touzot F., Picard C., Callebaut I., de Villartay J.-P., Moshous D., Fischer A., and Latour S. 2017. Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. J. Exp. Med. 214(1):73–89.
Jayachandran R., Liu X., Bosedasgupta S., Müller P., Zhang C.-L., Moshous D., Studer V., Schneider J., Genoud C., Fossoud C., Gambino F., Khelfaoui M., Müller C., Bartholdi D., Rossez H., Stiess M., Houbaert X., Jaussi R., Frey D., Kammerer R.A., Deupi X., de Villartay J.-P., Lüthi A., Humeau Y., and Pieters J. 2014. Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling. PLoS Biol. 12(3):e1001820.
Kaplan J., De Domenico I., and Ward D.M. 2008. Chediak-Higashi syndrome. Curr. Opinion Hematol. 15(1):22–29.
Katano H., Ali M.A., Patera A.C., Catalfamo M., Jaffe E.S., Kimura H., Dale J.K., Straus S.E., and Cohen J.I. 2003. Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation. Blood, 103(4):1244–1252.
Kawamura T., Ogawa Y., Shimozato O., Ando T., Nakao A., Kobata T., Okumura K., Yagita H., and Shimada S. 2011. CD70 is selectively expressed on Th1 but not on Th2 cells and is required for Th1-type immune responses. J. Invest. Dermatol. 131(6):1252–1261.
Kortum R.L., Rouquette-Jazdanian A.K., and Samelson L.E. 2013. Ras and extracellular signal-regulated kinase signaling in thymocytes and T cells. Trends Immunol. 34(6):259–268.
Kuehn H.S., Niemela J.E., Rangel-Santos A., Zhang M., Pittaluga S., Stoddard J.L., Hussey A.A., Evbuomwan M.O., Priel D.A.L., Kuhns D.B., Park C.L., Fleisher T.A., Uzel G., and Oliveira J.B. 2013. Loss-of-function of the protein kinase C (PKC) causes a B-cell lymphoproliferative syndrome in humans. Blood, 121(16):3117–3125.
Kuehn H.S., Niemela J.E., Sreedhara K., Stoddard J.L., Grossman J., Wysocki C.A., de la Morena M.T., Garofalo M., Inlora J., Snyder M.P., Lewis D.B., Stratakis C. A., Fleisher T.A., and Rosenzweig S.D. 2017. Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype. Blood, 130(13):1553–1564.
Lens S.M.A., Tesselaar K., van Oers M.H.J., and van Lier R.A.W. 1998. Control of lymphocyte function through CD27-CD70 interactions. Semin. Immunol. 10(6):491–499.
Li F.-Y., Chaigne-Delalande B., Su H., Uzel G., Matthews H., and Lenardo M.J. 2014. XMEN disease: A new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. Blood, 123(14):2148–2152.
Linka R.M., Risse S.L., Bienemann K., Werner M., Linka Y., Krux F., Synaeve C., Deenen R., Ginzel S., Dvorsky R., Gombert M., Halenius A., Hartig R., Helminen M., Fischer A., Stepensky P., Vettenranta K., Köhrer K., Ahmadian M.R., Laws H.-J., Fleckenstein B., Jumaa H., Latour S., Schraven B., and Borkhardt A. 2012. Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. Leukemia, 26(5):963–971.
Lopez-Herrera G., Tampella G., Pan-Hammarström Q., Herholz P., Trujillo-Vargas C.M., Phadwal K., Simon A.K., Moutschen M., Etzioni A., Mory A., Srugo I., Melamed D., Hultenby K., Liu C., Baronio M., Vitali M., Philippet P., Dideberg V., Aghamohammadi A., Rezaei N., Enright V., Du L., Salzer U., Eibel H., Pfeifer D., Veelken H., Stauss H., Lougaris V., Plebani A., Gertz E.M., Schäffer A.A., Hammarström L., and Grimbacher B. 2012. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am. J. Human Genet. 90(6):986–1001.
Lougaris V., Patrizi O., Baronio M., Tabellini G., Tampella G., Damiati E., Frede N., van der Meer J.W.M., Fliegauf M., Grimbacher B., Parolini S., and Plebani A. 2017. NFKB1 regulates human NK cell maturation and effector functions. Clin. Immunol. 175:99–108.
Lucas C.L., Kuehn H.S., Zhao F., Niemela J.E., Deenick E.K., Palendira U., Avery D.T., Moens L., Cannons J.L., Biancalana M., Stoddard J., Ouyang W., Frucht D.M., Rao V.K., Atkinson T.P., Agharahimi A., Hussey A.A., Folio L.R., Olivier KN., Fleisher T.A., Pittaluga S., Holland S.M., Cohen J.I., Oliveira J.B., Tangye S.G., Schwartzberg P.L., Lenardo M.J., and Uzel G. 2014. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat. Immunol. 15(1):88–97.
Mace E.M. and Orange J.S. 2014. Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A. Proc. Natl. Acad. Sci. U.S.A. 111(18):6708–6713.
Mansouri D., Mahdaviani S.A., Khalilzadeh S., Mohajerani S.A., Hasanzad M., Sadr S., Nadji S.A., Karimi S., Droodinia A., Rezaei N., Linka R.M., Bienemann K., Borkhardt A., Masjedi M.R., and Velayati A.A. 2012. IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection. Int. Arch. Allergy Immunol. 158(4):418–422.
Mao H., Yang W., Latour S., Yang J., Winter S., Zheng J., Ni K., Lv M., Liu C., Huang H., Chan K.-W., Pui-Wah Lee P., Tu W., Fischer A., and Lau Y.-L. 2018. RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. J. Allergy Clin. Immunol. 142(2):595–604.e16.
Marsh R.A., Madden L., Kitchen B.J., Mody R., McClimon B., Jordan M.B., Bleesing J.J., Zhang K., and Filipovich A.H. 2010. XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood, 116(7):1079–1082.
Marsh R.A., Bleesing J.J., Chandrakasan S., Jordan M.B., Davies S.M., and Filipovich A.H. 2014. Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked Lymphoproliferative disease type 1. Biol. Blood Marrow Transplant. 20(10):1641–1645.
Massaad M.J., Ramesh N., and Geha R.S. 2013. Wiskott-Aldrich syndrome: A comprehensive review. Ann. New York Acad. Sci. 1285(1):26–43.
McDonald-McGinn D.M., Sullivan K.E., Marino B., Philip N., Swillen A., Vorstman J.A.S., Zackai E.H., Emanuel B.S., Vermeesch J.R., Morrow B.E., Scambler P.J., and Bassett A.S. 2015. 22q11.2 deletion syndrome. Nat. Rev. Dis. Prim. 1:15071.
Merino, F., Henle, W., and Ramírez-Duque, P. 1986. Chronic active Epstein-Barr virus infection in patients with Chediak-Higashi syndrome. J. Clin. Immunol. 6(4):299–305. Available from http://www.ncbi.nlm.nih.gov/pubmed/3018035.
Moshous D., Pannetier C., de Chasseval R., le Deist F., Cavazzana-Calvo M., Romana S., Macintyre E., Canioni D., Brousse N., Fischer A., Casanova J.-L., and de Villartay J.-P. 2003. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J. Clin. Invest. 111(3):381–387.
Moshous D., Martin E., Carpentier W., Lim A., Callebaut I., Canioni D., Hauck F., Majewski J., Schwartzentruber J., Nitschke P., Sirvent N., Frange P., Picard C., Blanche S., Revy P., Fischer A., Latour S., Jabado N., and de Villartay J.-P. 2013. Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J. Allergy Clin. Immunol. 131(6):1594–1603.e9.
Mugnier B., Nal B., Verthuy C., Boyer C., Lam D., Chasson L., Nieoullon V., Chazal G., Guo X.-J., He H.-T., Rueff-Juy D., Alcover A., and Ferrier P. 2008. Coronin-1A links cytoskeleton dynamics to TCRαβ-induced cell signaling. PLoS ONE, 3(10):e3467.
Nakanishi, M., Kikuta, H., Tomizawa, K., Kojima, K., Ishizaka, A., Okano, M., Sakiyama, Y., and Matsumoto, S. 1993. Distinct clonotypic Epstein-Barr virus-induced fatal lymphoproliferative disorder in a patient with Wiskott-Aldrich syndrome. Cancer, 72(4): 1376–1381. Available from http://www.ncbi.nlm.nih.gov/pubmed/8393374.
Nehme N.T., Schmid J.P., Debeurme F., Andre-Schmutz I., Lim A., Nitschke P., Rieux-Laucat F., Lutz P., Picard C., Mahlaoui N., Fischer A., and de Saint Basile G. 2012. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood, 119(15):3458–3468.
Nemoto M., Hattori H., Maeda N., Akita N., Muramatsu H., Moritani S., Kawasaki T., Maejima M., Ode H., Hachiya A., Sugiura W., Yokomaku Y., Horibe K., and Iwatani Y. 2018. Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia. Sci. Rep. 8(1):6956.
Newell A., Dadi H., Goldberg R., Ngan B.-Y., Grunebaum E., and Roifman C.M. 2011. Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. J. Allergy Clin. Immunol. 127(2):517–520.
Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M., Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M., Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J., Lovett, M., Valentine, M.B., Look, A.T., Gerald, W., Housman, D.E., and Haber, D.A. 1998. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc. Natl. Acad. Sci. U.S.A. 95(23):13765–13770. Available from http://www.ncbi.nlm.nih.gov/pubmed/9811875.
Nolte M.A., van Olffen R.W., van Gisbergen K.P.J.M., and van Lier R.A.W. 2009. Timing and tuning of CD27-CD70 interactions: The impact of signal strength in setting the balance between adaptive responses and immunopathology. Immunol. Rev. 229(1):216–231.
Notarangelo L.D. 2010. Primary immunodeficiencies. J. Allergy Clin. Immunol. 125(Suppl 2):S182–S194.
Obexer P. and Ausserlechner M.J. 2014. X-linked inhibitor of apoptosis protein—A critical death resistance regulator and therapeutic target for personalized cancer therapy. Front. Oncol. 4:197.
Ogimi C., Tanaka R., Arai T., Kikuchi A., Hanada R., and Oh-Ishi T. 2011. Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome. Pediatr. Blood Cancer, 57(4):677–680.
Okkenhaug K. 2013. Signaling by the Phosphoinositide 3-Kinase family in immune cells. Ann. Rev. Immunol. 31(1):675–704.
Outinen T., Syrjänen J., Rounioja S., Saarela J., Kaustio M., and Helminen M. 2016. Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up. Clin. Immunol. 165:19–20.
Ouyang W. and Li M.O. 2011. Foxo: In command of T lymphocyte homeostasis and tolerance. Trends Immunol. 32(1):26–33.
Pace R. and Vinh D.C. 2013. Autoimmune lymphoproliferative syndrome and epstein-barr virus-associated lymphoma: An adjunctive diagnostic role for monitoring EBV viremia?. Case Reports Immunol. 2013:1–5.
Palendira U. and Rickinson A.B. 2015. Primary immunodeficiencies and the control of Epstein-Barr virus infection. Ann. New York Acad. Sci. 1356(1):22–44.
Palendira U., Low C., Chan A., Hislop A.D., Ho E., Phan T.G., Deenick E., Cook M.C., Riminton D.S., Choo S., Loh R., Alvaro F., Booth C., Gaspar H. B., Moretta A., Khanna R., Rickinson A.B., and Tangye S.G. 2011. Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP. PLoS Biol. 9(11):e1001187.
Paull T.T. 2015. Mechanisms of ATM activation. Ann. Rev. Biochem. 84(1):711–738.
Picard C., Bobby Gaspar H., Al-Herz W., Bousfiha A., Casanova J.-L., Chatila T., Crow Y.J., Cunningham-Rundles C., Etzioni A., Franco J.L., Holland S.M., Klein C., Morio T., Ochs H. D., Oksenhendler E., Puck J., Tang M.L.K., Tangye S.G., Torgerson T.R., and Sullivan K.E. 2018. International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J. Clin. Immunol. 38(1):96–128.
Platt C.D., Fried A.J., Hoyos-Bachiloglu R., Usmani G.N., Schmidt B., Whangbo J., Chiarle R., Chou J., and Geha R.S. 2017. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin. Immunol. 183:142–144.
Price S., Shaw P.A., Seitz A., Joshi G., Davis J., Niemela J.E., Perkins K., Hornung R.L., Folio L., Rosenberg P.S., Puck J.M., Hsu A. P., Lo B., Pittaluga S., Jaffe E.S., Fleisher T.A., Rao V.K., and Lenardo M.J. 2014. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood, 123(13):1989–1999.
Punwani D., Pelz B., Yu J., Arva N.C., Schafernak K., Kondratowicz K., Makhija M., and Puck J.M. 2015. Coronin-1A: Immune deficiency in humans and mice. J. Clin. Immunol. 35(2):100–107.
Purtilo, D.T., Cassel, C.K., Yang, J.P., and Harper, R. 1975. X-linked recessive progressive combined variable immunodeficiency (Duncan’s disease). Lancet (London, England), 1(7913):935–940. Available from http://www.ncbi.nlm.nih.gov/pubmed/48119.
Readinger J.A., Mueller K.L., Venegas A.M., Horai R., and Schwartzberg P.L. 2009. Tec kinases regulate T-lymphocyte development and function: New insights into the roles of Itk and Rlk/Txk. Immunol. Rev. 228(1):93–114.
Rezaei N., Mahmoudi E., Aghamohammadi A., Das R., and Nichols K.E. 2011. X-linked lymphoproliferative syndrome: A genetic condition typified by the triad of infection, immunodeficiency and lymphoma. Br. J. Haematol. 152(1):13–30.
Rickinson A.B., Long H.M., Palendira U., Münz C., and Hislop A.D. 2014. Cellular immune controls over Epstein-Barr virus infection: New lessons from the clinic and the laboratory. Trends Immunol. 35(4):159–169.
Rohr J., Beutel K., Maul-Pavicic A., Vraetz T., Thiel J., Warnatz K., Bondzio I., Gross-Wieltsch U., Schundeln M., Schutz B., Woessmann W., Groll A. H., Strahm B., Pagel J., Speckmann C., Janka G., Griffiths G., Schwarz K., zur Stadt U., and Ehl S. 2010. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica, 95(12):2080–2087.
Roose J.P., Mollenauer M., Gupta V.A., Stone J., and Weiss A. 2005. A diacylglycerol-protein kinase C-RasGRP1 pathway directs Ras activation upon antigen receptor stimulation of T cells. Mol. Cell. Biol. 25(11):4426–4441.
Salzer E., Daschkey S., Choo S., Gombert M., Santos-Valente E., Ginzel S., Schwendinger M., Haas O.A., Fritsch G., Pickl W.F., Förster-Waldl E., Borkhardt A., Boztug K., Bienemann K., and Seidel M.G. 2013. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica, 98(3):473–478.
Salzer E., Cagdas D., Hons M., Mace E.M., Garncarz W., Petronczki Ö.Y., Platzer R., Pfajfer L., Bilic I., Ban S.A., Willmann K.L., Mukherjee M., Supper V., Hsu H.T., Banerjee P.P., Sinha P., McClanahan F., Zlabinger G.J., Pickl W.F., Gribben J.G., Stockinger H., Bennett K.L., Huppa J.B., Dupré L., Sanal Ö., Jäger U., Sixt M., Tezcan I., Orange J.S., and Boztug K. 2016. RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nat. Immunol. 17(12):1352–1360.
Sammicheli S., Ruffin N., Lantto R., Vivar N., Chiodi F., and Rethi B. 2012. IL-7 modulates B cells survival and activation by inducing BAFF and CD70 expression in T cells. J. Autoimmun. 38(4):304–314.
Sasahara, Y., Fujie, H., Kumaki, S., Ohashi, Y., Minegishi, M., and Tsuchiya, S. 2001. Epstein-Barr virus-associated hodgkin’s disease in a patient with Wiskott-Aldrich syndrome. Acta Paediatr. (Oslo, Norway : 1992), 90(11):1348–1351. Available from http://www.ncbi.nlm.nih.gov/pubmed/11808913.
Sayos J., Wu C., Morra M., Wang N., Zhang X., Allen D., van Schaik S., Notarangelo L., Geha R., Roncarolo M.G., Oettgen H., de Vries J.E., Aversa G., and Terhorst C. 1998. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature, 395(6701):462–469.
Schipp C., Nabhani S., Bienemann K., Simanovsky N., Kfir-Erenfeld S., Assayag-Asherie N., Oommen P.T., Revel-Vilk S., Honscheid A., Gombert M., Ginzel S., Schafer D., Laws H.-J., Yefenof E., Fleckenstein B., Borkhardt A., Stepensky P., and Fischer U. 2016. Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans. Haematologica, 101(10):e392–e396.
Schmid J.P., Canioni D., Moshous D., Touzot F., Mahlaoui N., Hauck F., Kanegane H., Lopez-Granados E., Mejstrikova E., Pellier I., Galicier L., Galambrun C., Barlogis V., Bordigoni P., Fourmaintraux A., Hamidou M., Dabadie A., Le Deist F., Haerynck F., Ouachee-Chardin M., Rohrlich P., Stephan J.-L., Lenoir C., Rigaud S., Lambert N., Milili M., Schiff C., Chapel H., Picard C., de Saint Basile G., Blanche S., Fischer A., and Latour S. 2011a. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117(5):1522–1529.
Schmid J.P., Canioni D., Moshous D., Touzot F., Mahlaoui N., Hauck F., Kanegane H., Lopez-Granados E., Mejstrikova E., Pellier I., Galicier L., Galambrun C., Barlogis V., Bordigoni P., Fourmaintraux A., Hamidou M., Dabadie A., Le Deist F., Haerynck F., Ouachee-Chardin M., Rohrlich P., Stephan J.-L., Lenoir C., Rigaud S., Lambert N., Milili M., Schiff C., Chapel H., Picard C., de Saint Basile G., Blanche S., Fischer A., and Latour S. 2011b. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117(5):1522–1529.
Schober T., Magg T., Laschinger M., Rohlfs M., Linhares N.D., Puchalka J., Weisser T., Fehlner K., Mautner J., Walz C., Hussein K., Jaeger G., Kammer B., Schmid I., Bahia M., Pena S.D., Behrends U., Belohradsky B.H., Klein C., and Hauck F. 2017. A human immunodeficiency syndrome caused by mutations in CARMIL2. Nat. Commun. 8:14209.
Sebire, N.J., Haselden, S., Malone, M., Davies, E.G., and Ramsay, A.D. 2003. Isolated EBV lymphoproliferative disease in a child with Wiskott-Aldrich syndrome manifesting as cutaneous lymphomatoid granulomatosis and responsive to anti-CD20 immunotherapy. J. Clin. Pathol. 56(7):555–557. Available from http://www.ncbi.nlm.nih.gov/pubmed/12835306.
Sepulveda F.E. and de Saint Basile G. 2017. Hemophagocytic syndrome: Primary forms and predisposing conditions. Curr. Opinion Immunol. 49:20–26.
Serwas N.K., Cagdas D., Ban S.A., Bienemann K., Salzer E., Tezcan I., Borkhardt A., Sanal O., and Boztug K. 2014. Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia. Blood, 124(4):655–657.
Shabani M., Nichols K.E., and Rezaei N. 2016. Primary immunodeficiencies associated with EBV-Induced lymphoproliferative disorders. Crit. Rev. Oncol./Hematol. 108:109–127.
Shamriz O., Vilk S.R., Wolf D.G., Ta-Shma A., Averbuch D., Weintraub M., and Stepensky P. 2014. Hematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders. Clin. Immunol. 151(2):79–83.
Shiow L.R., Roadcap D.W., Paris K., Watson S.R., Grigorova I.L., Lebet T., An J., Xu Y., Jenne C.N., Föger N., Sorensen R.U., Goodnow C.C., Bear J.E., Puck J.M., and Cyster J.G. 2008. The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat. Immunol. 9(11):1307–1315.
Shiow L.R., Paris K., Akana M.C., Cyster J.G., Sorensen R.U., and Puck J.M. 2009. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin. Immunol. (Orlando, Fla.), 131(1):24–30.
Snow A.L., Xiao W., Stinson J.R., Lu W., Chaigne-Delalande B., Zheng L., Pittaluga S., Matthews H.F., Schmitz R., Jhavar S., Kuchen S., Kardava L., Wang W., Lamborn I.T., Jing H., Raffeld M., Moir S., Fleisher T.A., Staudt L.M., Su H.C., and Lenardo M.J. 2012. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. J. Exp. Med. 209(12):2247–2261.
Somekh, I.,Marquardt,B., Liu,Y.,Rohlfs, M.,Hollizeck, S., Karakukcu, M., Unal, E., Yilmaz, E., Patiroglu, T., Cansever, M., Frizinsky, S., Vishnvenska-Dai, V., Rechavi, E., Stauber, T., Simon, A.J., Lev, A., Klein, C., Kotlarz, D., and Somech, R. 2018. Novel mutations in RASGRP1 are associated with immunodeficiency, immune dysregulation, and EBV-induced lymphoma. J. Clin. Immunol. 1–12.
Sorte H.S., Osnes L.T., Fevang B., Aukrust P., Erichsen H.C., Backe P.H., Abrahamsen T.G., Kittang O.B., Øverland T., Jhangiani S.N., Muzny D.M., Vigeland M.D., Samarakoon P., Gambin T., Akdemir Z.H.C., Gibbs R.A., Rødningen O.K., Lyle R., Lupski J.R., and Stray-Pedersen A. 2016. A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol. Gen. Genom. Med. 4(6):604–616.
Speckmann C., Lehmberg K., Albert M.H., Damgaard R.B., Fritsch M., Gyrd-Hansen M., Rensing-Ehl A., Vraetz T., Grimbacher B., Salzer U., Fuchs I., Ufheil H., Belohradsky B. H., Hassan A., Cale C.M., Elawad M., Strahm B., Schibli S., Lauten M., Kohl M., Meerpohl J. J., Rodeck B., Kolb R., Eberl W., Soerensen J., von Bernuth H., Lorenz M., Schwarz K., zur Stadt U., and Ehl S. 2013. X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin. Immunol. 149(1):133–141.
Spinner M.A., Sanchez L.A., Hsu A.P., Shaw P.A., Zerbe C.S., Calvo K.R., Arthur D.C., Gu W., Gould C.M., Brewer C.C., Cowen E.W., Freeman A.F., Olivier K.N., Uzel G., Zelazny A.M., Daub J.R., Spalding C.D., Claypool R.J., Giri N.K., Alter B.P., Mace E.M., Orange J.S., Cuellar-Rodriguez J., Hickstein D.D., and Holland S.M. 2014. GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity. Blood, 123(6):809–821.
Stepensky P., Weintraub M., Yanir A., Revel-Vilk S., Krux F., Huck K., Linka R.M., Shaag A., Elpeleg O., Borkhardt A., and Resnick I.B. 2011. IL-2-inducible T-cell kinase deficiency: Clinical presentation and therapeutic approach. Haematologica, 96(3):472–476.
Straus, S.E., Jaffe, E.S., Puck, J.M., Dale, J.K., Elkon, K.B., Rösen-Wolff, A., Peters, A.M., Sneller, M.C., Hallahan, C.W., Wang, J., Fischer, R.E., Jackson, C.E., Lin, A.Y., Bäumler, C., Siegert, E., Marx, A., Vaishnaw, A.K., Grodzicky, T., Fleisher, T.A., and Lenardo, M.J. 2001. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood, 98(1):194–200. Available from http://www.ncbi.nlm.nih.gov/pubmed/11418480.
Stray-Pedersen A., Jouanguy E., Crequer A., Bertuch A.A., Brown B.S., Jhangiani S.N., Muzny D.M., Gambin T., Sorte H., Sasa G., Metry D., Campbell J., Sockrider M.M., Dishop M.K., Scollard D.M., Gibbs R.A., Mace E.M., Orange J.S., Lupski J.R., Casanova J.-L., and Noroski L.M. 2014. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J. Clin. Immunol. 34(7):871–890.
Suarez F., Mahlaoui N., Canioni D., Andriamanga C., Dubois d’Enghien C., Brousse N., Jais J.-P., Fischer A., Hermine O., and Stoppa-Lyonnet D. 2015. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French national registry of primary immune deficiencies. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 33(2):202–208.
Sullivan, K.E., Mullen, C.A., Blaese, R.M., and Winkelstein, J.A. 1994. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J. Pediatr. 125(6 Pt 1):876–885. Available from http://www.ncbi.nlm.nih.gov/pubmed/7996359.
Tangye S.G., Palendira U., and Edwards E.S.J. 2017. Human immunity against EBV—Lessons from the clinic. J. Exp. Med. 214(2):269–283.
Taraban, V.Y., Martin, S., Attfield, K.E., Glennie, M.J., Elliott, T., Elewaut, D., Van Calenbergh, S., Linclau, B., and Al-Shamkhani, A. 2008. Invariant NKT cells promote CD8+ cytotoxic T cell responses by inducing CD70 expression on dendritic cells. J. Immunol. (Baltimore, Md. : 1950), 180(7):4615–4620. Available from http://www.ncbi.nlm.nih.gov/pubmed/18354184.
Taylor G.S., Long H.M., Brooks J.M., Rickinson A.B., and Hislop A.D. 2015. The immunology of Epstein-Barr virus-induced disease. Ann. Rev. Immunol. 33(1):787–821.
Tesselaar, K., Gravestein, L.A., van Schijndel, G.M., Borst, J., and van Lier, R.A. 1997. Characterization of murine CD70, the ligand of the TNF receptor family member CD27. J. Immunol. (Baltimore, Md. : 1950), 159(10):4959–4965. Available from http://www.ncbi.nlm.nih.gov/pubmed/9366422.
Tesselaar K., Arens R., van Schijndel G.M.W., Baars P.A., van der Valk M.A., Borst J., van Oers M.H.J., and van Lier R.A.W. 2003. Lethal T cell immunodeficiency induced by chronic costimulation via CD27-CD70 interactions. Nat. Immunol. 4(1):49–54.
Thrasher A.J. and Burns S.O. 2010. WASP: A key immunological multitasker. Nat. Rev. Immunol. 10(3):182–192.
Toita N., Hatano N., Ono S., Yamada M., Kobayashi R., Kobayashi I., Kawamura N., Okano M., Satoh A., Nakagawa A., Ohshima K., Shindoh M., Takami T., Kobayashi K., and Ariga T. 2007. Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Am. J. Med. Gen. Part A, 143A(7):742–745.
Turul T., Tezcan I., Artac H., de Bruin-Versteeg S., Barendregt B.H., Reisli I., Sanal O., van Dongen J.J.M., and van der Burg M. 2009. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur. J. Pediatr. 168(1):87–93.
van Gisbergen K.P.J.M., Klarenbeek P.L., Kragten N.A.M., Unger P.-P.A., Nieuwenhuis M.B.B., Wensveen F.M., ten Brinke A., Tak P.P., Eldering E., Nolte M.A., and van Lier R.A.W. 2011. The costimulatory molecule CD27 maintains clonally diverse CD8(+) T cell responses of low antigen affinity to protect against viral variants. Immunity, 35(1):97–108.
van Montfrans J.M., Hoepelman A.I.M., Otto S., van Gijn M., van de Corput L., de Weger R.A., Monaco-Shawver L., Banerjee P.P., Sanders E.A.M., Jol-van der Zijde C.M., Betts M.R., Orange J.S., Bloem A.C., and Tesselaar K. 2012. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J. Allergy Clin. Immunol. 129(3):787–793.e6.
Wang Y., Ma C.S., Ling Y., Bousfiha A., Camcioglu Y., Jacquot S., Payne K., Crestani E., Roncagalli R., Belkadi A., Kerner G., Lorenzo L., Deswarte C., Chrabieh M., Patin E., Vincent Q.B., Müller-Fleckenstein I., Fleckenstein B., Ailal F., Quintana-Murci L., Fraitag S., Alyanakian M.-A., Leruez-Ville M., Picard C., Puel A., Bustamante J., Boisson-Dupuis S., Malissen M., Malissen B., Abel L., Hovnanian A., Notarangelo L.D., Jouanguy E., Tangye S.G., Béziat V., and Casanova J.-L. 2016. Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. J. Exp. Med. 213(11):2413–2435.
Warnecke N., Poltorak M., Kowtharapu B.S., Arndt B., Stone J.C., Schraven B., and Simeoni L. 2012. TCR-mediated Erk activation does not depend on Sos and Grb2 in peripheral human T cells. EMBO Rep. 13(4):386–391.
Winter S., Martin E., Boutboul D., Lenoir C., Boudjemaa S., Petit A., Picard C., Fischer A., Leverger G., and Latour S. 2018. Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility. EMBO Mol. Med. 10(2):188–199.
Woodbine L., Gennery A.R., and Jeggo P.A. 2014. The clinical impact of deficiency in DNA non-homologous end-joining. DNA Repair, 16:84–96.
Worth A.J.J., Houldcroft C.J., and Booth C. 2016. Severe Epstein-Barr virus infection in primary immunodeficiency and the normal host. Br. J. Haematol. 175(4):559–576.
Yang X., Miyawaki T., and Kanegane H. 2012. SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr. Int. 54(4):447–454.
Yee C.S., Massaad M.J., Bainter W., Ohsumi T.K., Föger N., Chan A.C., Akarsu N.A., Aytekin C., Ayvaz D.Ç., Tezcan I., Sanal Ö., Geha R.S., and Chou J. 2016. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J. Allergy Clin. Immunol. 137(3):879–888.e2.
Yoshida, K., Minegishi, Y., Okawa, H., Yata, J., Tokoi, S., Kitagawa, T., and Utagawa, T. 1997. Epstein-Barr virus-associated malignant lymphoma with macroamylasemia and monoclonal gammopathy in a patient with Wiskott-Aldrich syndrome. Pediatr. Hematol. Oncol. 14(1):85–89. Available from http://www.ncbi.nlm.nih.gov/pubmed/9021818.
Zeng W., Su M., Anderson K.S., and Sasada T. 2014. Artificial antigen-presenting cells expressing CD80, CD70, and 4-1BB ligand efficiently expand functional T cells specific to tumor-associated antigens. Immunobiology, 219(8):583–592.
Zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauß J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., and Hennies H.C. 2009. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am. J. Human Gen. 85(4):482–492.

Information & Authors

Information

Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 5Number 3September 2018
Pages: 65 - 85

History

Received: 26 July 2018
Accepted: 20 August 2018
Version of record online: 28 September 2018

Authors

Affiliations

Pediatric Allergy/Immunology Unit, E. Wolfson Medical Center, Holon, Israel
Department of Pediatrics, E. Wolfson Medical Center, Holon Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Ilan Dalal
Pediatric Allergy/Immunology Unit, E. Wolfson Medical Center, Holon, Israel
Department of Pediatrics, E. Wolfson Medical Center, Holon Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Metrics & Citations

Metrics

Other Metrics

Citations

Cite As

Export Citations

If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download.

There are no citations for this item

View Options

View options

PDF

View PDF

Full Text

View Full Text

Get Access

Login options

Check if you access through your login credentials or your institution to get full access on this article.

Subscribe

Click on the button below to subscribe to LymphoSign Journal

Purchase options

Purchase this article to get full access to it.

Restore your content access

Enter your email address to restore your content access:

Note: This functionality works only for purchases done as a guest. If you already have an account, log in to access the content to which you are entitled.

Media

Media

Other

Tables

Share Options

Share

Share the article link

Share on social media