Genetic disorders of immune regulation

Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management

Volumn , Issue , 2008, Pages 167-194

  Speckmann, Carsten ^a   Rohr, Jan ^a   Ehl, Stephan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79251486129     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-78936-9_5     Document Type: Chapter

References (197)

1. Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins S P, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C, Mathis D (2002) Projection of an immunological self shadow within the thymus by the aire protein. Science 298:1395-1401
2. Arico M, Allen M, Brusa S, Clementi R, Pende D, Maccario R, Moretta L, Danesino C (2002) Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol 119:180-188
3. Arkwright PD, Makin G, Will AM, Ayres M, Gokhale DA, Fergusson WD, Taylor GM (1998) X linked lymphoproliferative disease in a United Kingdom family. Arch Dis Child 79:52-55
4. Ashkenazi A, Dixit VM (1998) Death receptors: signaling and modulation. Science 281:1305-1308
5. Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG (2006) Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 116:1713-1722
6. Bakke AC, Purtzer MZ, Wildin RS (2004) Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX). Clin Exp Immunol 137:373-378
7. Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382:262-265
8. Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, Dupuis-Girod S, Cerf-Bensussan N, Cavazzana-Calvo M, Brousse N, Fischer A, Casanova JL (2001) Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 344:1758-1762
9. Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF (2001) A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome. Immunogenetics 53:435-439
10. Bennett CL, Ochs HD (2001) IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr 13:533-538
11. Benoit L, Wang XX, Pabst HF, Dutz J, Tan R (2000) Cutting edge: Defective NK cell activation in X-linked lymphoproliferative disease. J Immunol 165:3549-3553
12. Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M (2003) Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 35:90-96
13. Bettelli E, Dastrange M, Oukka M (2005) Foxp3 interacts with nuclear factor of activated T cells and NF-kappa B to repress cytokine gene expression and effector functions of T helper cells. Proc Natl Acad Sci USA 102:5138-5143
14. Betts MR, Brenchley JM, Price DA, De Rosa SC, Douek DC, Roederer M, Koup RA (2003) Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation. J Immunol Methods 281:65-78
15. Binder D, Fehr J, Hengartner H, Zinkernagel RM (1997) Virus-induced transient bone marrow aplasia: major role of interferon-alpha/beta during acute infection with the noncytopathic lymphocytic choriomeningitis virus. J Exp Med 185:517-530
16. Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O, Ruemmele FM (2005) Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 147:256-259
17. Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L (2000) Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 66:378-392
18. Bjorses P, Pelto-Huikko M, Kaukonen J, Aaltonen J, Peltonen L, Ulmanen I (1999) Localization of the APECED protein in distinct nuclear structures. Hum Mol Genet 8:259-266
19. Bleesing JJ, Brown MR, Straus SE, Dale JK, Siegel RM, Johnson M, Lenardo MJ, Puck JM, Fleisher TA (2001) Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 98:2466-2473
20. Bobe P, Bonardelle D, Benihoud K, Opolon P, Chelbi-Alix MK (2006) Arsenic trioxide: A promising novel therapeutic agent for lymphoproliferative and autoimmune syndromes in MRL/lpr mice. Blood 108:3967-3975
21. Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C (2007) A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med 13:38-45
22. Bolitho P, Voskoboinik I, Trapani JA, Smyth MJ (2007) Apoptosis induced by the lymphocyte effector molecule perforin. Curr Opin Immunol 19:339-347
23. Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A (1999) Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Human Mol Genet 8:2407-2413
24. Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjold M, Henter JI, Long EO, Ljunggren HG (2007) Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood 110:1906-1915
25. Cannons JL, Yu LJ, Hill B, Mijares LA, Dombroski D, Nichols KE, Antonellis A, Koretzky GA, Gardner K, Schwartzberg PL (2004) SAP regulates T (H) 2 differentiation and PKC-theta-mediated activation of NF-kappa B1. Immunity 21:693-706
26. Caudy AA, Reddy ST, Chatila T, Atkinson J P, Verbsky JW (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119:482-487
27. Chan B, Lanyi A, Song HK, Griesbach J, Simarro-Grande M, Poy F, Howie D, Sumegi J, Terhorst C, Eck MJ (2003) SAP couples Fyn to SLAM immune receptors. Nat Cell Biol 5:155-160
28. Chediak MM (1952) New leukocyte anomaly of constitutional and familial character. Rev Hematol 7:362-367
29. Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson T P, Straus SE, Lenardo MJ (2002) Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419:395-399
30. Chung B, Aoukaty A, Dutz J, Terhorst C, Tan RS (2005) Cutting edge: Signaling lymphocytic activation molecule-associated protein controls NKT cell functions. J Immunol 174:3153-3157
31. Clark LB, Appleby MW, Brunkow ME, Wilkinson JE, Ziegler SF, Ramsdell F (1999) Cellular and molecular characterization of the scurfy mouse mutant. J Immunol 162:2546-2554
32. Clark R, Griffiths GM (2003) Lytic granules, secretory lysosomes and disease. Curr Opin Immunol 15:516-521
33. Cocks BG, Chang CCJ, Carballido JM, Yssel H, Devries JE, Aversa G (1995) A novel receptor involved in T cell activation. Nature 376:260-263
34. Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, 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 JR, Webster D, Harris A, Lenoir G, St Basile GD, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR (1998) Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nature Genet 20:129-135
35. Czar MJ, Kersh EN, Mijares LA, Lanier G, Lewis J, Yap G, Chen A, Sher A, Duckett CS, Ahmed R, Schwartzberg PL (2001) Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. Proc Natl Acad Sci USA 98:7449-7454
36. De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG (2006) Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome. Clin Gastroenterol Hepatol 4:653-659
37. de Saint BG, Fischer A (2001) The role of cytotoxicity in lymphocyte homeostasis. Curr Opin Immunol 13:549-554
38. de Saint BG, Fischer A (2003) Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis. Curr Opin Rheumatol 15:436-445
39. Del Rey M, Ruiz-Contreras J, Bosque A, Calleja S, Gomez-Rial J, Roldan E, Morales P, Serrano A, Anel A, Paz-Artal E, Allende LM (2006) A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood 108:1306-1312
40. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 3:11-21
41. Di Rocco M, Marta R (1996) X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 75:F144
42. Dianzani U, Bragardo M, DiFranco D, Alliaudi C, Scagni P, Buonfiglio D, Redoglia V, Bonissoni S, Correra A, Dianzani I, Ramenghi U (1997) Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood 89:2871-2879
43. Domachowske JB (2006) Infectious triggers of hemophagocytic syndrome in children. Pediatr Infect Dis J 25:1067-1068
44. Donohue WL, Bain HW (1957) Chediak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. Pediatrics 20:416-430
45. Dupre L, Andolfi G, Tangye SG, Clementi R, Locatelli F, Arico M, Aiuti A, Roncarolo MG (2005) SAP controls the cytolytic activity of CD8 (+) T cells against EBV-infected cells. Blood 105:4383-4389
46. Dutz J P, Benoit L, Wang XX, Demetrick DJ, Junker A, de S, Tan RS (2001) Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood 97:95-100
47. Eberl G, Lowin-Kropf B, MacDonald HR (1999) Cutting edge: NKT cell development is selectively impaired in Fyn-deficient mice. J Immunol 163:4091-4094
48. Eckelman BP, Salvesen GS, Scott FL (2006) Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family. EMBO Rep 7:988-994
49. Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Muller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 108:81-87
50. Engel P, Eck MJ, Terhorst C (2003) The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. Nat Rev Immunol 3:813-821
51. Farquhar JW, Claireaux AE (1952) Familial haemophagocytic reticulosis. Arch Dis Child 27:519-525
52. Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachee-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint BG (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115:461-473
53. Feldmann J, Menasche G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, Fischer A, Le Deist F, Tardieu M, de Saint BG (2005) Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. Blood 105:2658-2663
54. Ferguson PJ, Blanton SH, Saulsbury FT, McDuffie MJ, Lemahieu V, Gastier JM, Francke U, Borowitz SM, Sutphen JL, Kelly TE (2000) Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. Am J Med Genet 90:390-397
55. Filipovich AH (2006) Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol 6:410-415
56. Fischer A, Latour S, de Saint BG (2007) Genetic defects affecting lymphocyte cytotoxicity. Curr Opin Immunol 19:348-353
57. Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, Strober W, Lenardo MJ, Puck JM (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81:935-946
58. Fontenot JD, Gavin MA, Rudensky AY (2003) Foxp3 programs the development and function of CD4+CD25+ regulatory T cells. Nat Immunol 4:330-336
59. Fuss IJ, Strober W, Dale JK, Fritz S, Pearlstein GR, Puck JM, Lenardo MJ, Straus SE (1997) Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol 158:1912-1918
60. Gadue P, Morton N, Stein PL (1999) The Src family tyrosine kinase Fyn regulates natural killer T cell development. J Exp Med 190:1189-1196
61. Gagnaire MH, Galambrun C, Stephan JL (2000) Hemophagocytic syndrome: A misleading complication of visceral leishmaniasis in children - a series of 12 cases. Pediatrics 106:E58
62. Gambineri E, Torgerson TR, Ochs HD (2003) Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T cell homeostasis. Curr Opin Rheumatol 15:430-435
63. Gaspar HB, Sharifi R, Gilmour KC, Thrasher AJ (2002) X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective. Br J Haematol 119:585-595
64. Gautam R, Novak EK, Tan J, Wakamatsu K, Ito S, Swank RT (2006) Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. Traffic 7:779-792
65. Gilmour KC, Cranston T, Jones A, Davies EG, Goldblatt D, Thrasher A, Kinnon C, Nichols KE, Gaspar HB (2000) Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression. Eur J Immunol 30:1691-1697
66. Grierson H, Purtilo DT (1987) Epstein-Barr virus infections in males with the X-linked lymphoproliferative syndrome. Ann Intern Med 106:538-545
67. Grierson HL, Skare J, Hawk J, Pauza M, Purtilo DT (1991) Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. Am J Med Genet 40:294-297
68. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691-702
69. Gross TG, Filipovich AH, Conley ME, Pracher E, Schmiegelow K, Verdirame JD, Vowels M, Williams LL, Seemayer TA (1996) Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): report from the XLP registry. Bone Marrow Transplant 17:741-744
70. Haddad E, Sulis ML, Jabado N, Blanche S, Fischer A, Tardieu M (1997) Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis. Blood 89:794-800
71. Hambleton G, Cottom DG (1969) Familial lymphoma. Proc R Soc Med 62:1095
72. Harada S, Sakamoto K, Seeley JK, Lindsten T, Bechtold T, Yetz J, Rogers G, Pearson G, Purtilo DT (1982) Immune deficiency in the X-linked lymphoproliferative syndrome. I. Epstein-Barr virus-specific defects. J Immunol 129:2532-2535
73. Harrington DS, Weisenburger DD, Purtilo DT (1987) Malignant lymphoma in the X-linked lymphoproliferative syndrome. Cancer 59:1419-1429
74. Heelan BT, Tormey V, Amlot P, Payne E, Mehta A, Webster AD (2002) Effect of anti-CD20 (rituximab) on resistant thrombocytopenia in autoimmune lymphoproliferative syndrome. Br J Haematol 118:1078-1081
75. Henning G, Kraft MS, Derfuss T, Pirzer R, Saint-Basile G, Aversa G, Fleckenstein B, Meinl E (2001) Signaling lymphocytic activation molecule (SLAM) regulates T cellular cytotoxicity. Eur J Immunol 31:2741-2750
76. Henter JI, Elinder G, Ost A (1991) Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. Semin Oncol 18:29-33
77. Henter JI, Elinder G, Soder O, Hansson M, Andersson B, Andersson U (1991) Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. Blood 78:2918-2922
78. Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G (2007) HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124-131
79. Henter JI, Samuelsson-Horne A, Arico M, Egeler RM, Elinder G, Filipovich AH, Gadner H, Imashuku S, Komp D, Ladisch S, Webb D, Janka G (2002) Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 100:2367-2373
80. Higashi O (1954) Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase. Tohoku J Exp Med 59:315-332
81. Hoffmann T, Heilmann C, Madsen HO, Vindelov L, Schmiegelow K (1998) Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP). Bone Marrow Transplant 22:603-604
82. Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F (2004) Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 351:1409-1418
83. Horak I, Lohler J, Ma A, Smith KA (1995) Interleukin-2 deficient mice: a new model to study autoimmunity and self-tolerance. Immunol Rev 148:35-44
84. Hori S, Nomura T, Sakaguchi S (2003) Control of regulatory T cell development by the transcription factor Foxp3. Science 299:1057-1061
85. Hugle B, Suchowerskyj P, Hellebrand H, Adler B, Borte M, Sack U, Overberg-Schmidt US, Strnad N, Otto J, Meindl A, Schuster V (2004) Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease - report of three cases. J Clin Immunol 24:515-522
86. Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA (2002) Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 51:150-158
87. Imashuku S, Kuriyama K, Sakai R, Nakao Y, Masuda S, Yasuda N, Kawano F, Yakushijin K, Miyagawa A, Nakao T, Teramura T, Tabata Y, Morimoto A, Hibi S (2003) Treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) in young adults: a report from the HLH study center. Med Pediatr Oncol 41:103-109
88. Imashuku S, Kuriyama K, Teramura T, Ishii E, Kinugawa N, Kato M, Sako M, Hibi S (2001) Requirement for etoposide in the treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. J Clin Oncol 19:2665-2673
89. Janka GE (2007) Hemophagocytic syndromes. Blood Rev 21:245-253
90. Jonas MM, Bell MD, Eidson MS, Koutouby R, Hensley GT (1991) Congenital diabetes mellitus and fatal secretory diarrhea in two infants. J Pediatr Gastroenterol Nutr 13:415-425
91. Jordan MB, Hildeman D, Kappler J, Marrack P (2004) An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood 104:735-743
92. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schaffer AA, Rathinam C, Kollner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C (2006) Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 108:362-369
93. Kagi D, Ledermann B, Burki K, Zinkernagel RM, Hengartner H (1996) Molecular mechanisms of lymphocytemediated cytotoxicity and their role in immunological protection and pathogenesis in vivo. Annu Rev Immunol 14:207-232
94. Kawa K, Okamura T, Yasui M, Sato E, Inoue M (2002) Allogeneic hematopoietic stem cell transplantation for Epstein-Barr virus-associated T/NK-cell lymphoproliferative disease. Crit Rev Oncol Hematol 44:251-257
95. Khattri R, Cox T, Yasayko SA, Ramsdell F (2003) An essential role for Scurfin in CD4+CD25+ T regulatory cells. Nat Immunol 4:337-342
96. Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C (1994) Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 125:886-895
97. Kobayashi I, Imamura K, Yamada M, Okano M, Yara A, Ikema S, Ishikawa N (1998) A 75-kD autoantigen recog nized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy. Clin Exp Immunol 111:527-531
98. Kobayashi I, Nakanishi M, Okano M, Sakiyama Y, Matsumoto S (1995) Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy. Eur J Pediatr 154:594-595
99. Kronenberg M, Gapin L (2002) The unconventional lifestyle of NKT cells. Nat Rev Immunol 2:557-568
100. Lankester AC, Visser LF, Hartwig NG, Bredius RG, Gaspar HB, van der BM, van Tol MJ, Gross TG, Egeler RM (2005) Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature. Bone Marrow Transplant 36:99-105
101. Latour S, Gish G, Helgason CD, Humphries RK, Pawson T, Veillette A (2001) Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product. Nat Immunol 2:681-690
102. Latour S, Veillette A (2003) Molecular and immunological basis of X-linked lymphoproliferative disease. Immunol Rev 192:212-224
103. Le Deist F, Emile JF, Rieux-Laucat F, Benkerrou M, Roberts I, Brousse N, Fischer A (1996) Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 348:719-723
104. Levy-Lahad E, Wildin RS (2001) Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome. J Pediatr 138:577-580
105. Lim MS, Straus SE, Dale JK, Fleisher TA, Stetler-Stevenson M, Strober W, Sneller MC, Puck JM, Lenardo MJ, Elenitoba-Johnson KS, Lin AY, Raffeld M, Jaffe ES (1998) Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 153:1541-1550
106. Lucas KG, Ungar D, Comito M, Bayerl M, Groh B (2007) Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. Bone Marrow Transplant 39:55-56
107. Ma CS, Hare NJ, Nichols KE, Dupre L, Andolfi G, Roncarolo MG, Adelstein S, Hodgkin PD, Tangye SG (2005) Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells. J Clin Invest 115:1049-1059
108. Ma CS, Pittaluga S, Avery DT, Hare NJ, Maric I, Klion AD, Nichols KE, Tangye SG (2006) Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease. J Clin Invest 116:322-333
109. Malbran A, Belmonte L, Ruibal-Ares B, Bare P, Massud I, Parodi C, Felippo M, Hodinka R, Haines K, Nichols KE, de Bracco MM (2004) Loss of circulating CD27+ memory B cells and CCR4+ T cells occurring in association with elevated EBV loads in XLP patients surviving primary EBV infection. Blood 103:1625-1631
110. Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths GM, Arico M, Moretta L, Pende D (2006) Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood 108:2316-2323
111. Mazzolari E, Forino C, Fontana M, D'Ippolito C, Lanfranchi A, Gambineri E, Ochs H, Badolato R, Notarangelo LD (2005) A new case of IPEX receiving bone marrow transplantation. Bone Marrow Transplant 35:1033-1034
112. Menasche G, Feldmann J, Fischer A, de Saint BG (2005) Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol Rev 203:165-179
113. Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint BG (2003) Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 112:450-456
114. Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint BG (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25:173-176
115. Migliorati R, Castaldo A, Russo S, Porta F, Fiorillo A, Guida S, Poggi V, Guarino A (1994) Treatment of EBV-induced lymphoproliferative disorder with epipodophyllotoxin VP16-213. Acta Paediatr 83:1322-1325
116. Milone MC, Tsai DE, Hodinka RL, Silverman LB, Malbran A, Wasik MA, Nichols KE (2005) Treatment of primary Epstein-Barr virus infection in patients with X-linked lymphoproliferative disease using B celldirected therapy. Blood 105:994-996
117. Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C (2001) Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. J Biol Chem 276:36809-36816
118. Mroczek EC, Weisenburger DD, Grierson HL, Markin R, Purtilo DT (1987) Fatal infectious mononucleosis and virus-associated hemophagocytic syndrome. Arch Pathol Lab Med 111:530-535
119. Myers AK, Perroni L, Costigan C, Reardon W (2006) Clinical and molecular findings in IPEX syndrome. Arch Dis Child 91:63-64
120. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nat Genet 17:393-398
121. Nakamura H, Zarycki J, Sullivan JL, Jung JU (2001) Abnormal T cell receptor signal transduction of CD4 Th cells in X-linked lymphoproliferative syndrome. J Immunol 167:2657-2665
122. Neeft M, Wieffer M, de Jong AS, Negroiu G, Metz CH, van Loon A, Griffith J, Krijgsveld J, Wulffraat N, Koch H, Heck AJ, Brose N, Kleijmeer M, van der SP (2005) Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. Mol Biol Cell 16:731-741
123. Nichols KE, Hom J, Gong SY, Ganguly A, Ma CS, Cannons JL, Tangye SG, Schwartzberg PL, Koretzky GA, Stein PL (2005) Regulation of NKT cell development by SAP, the protein defective in XLP. Nat Med 11:340-345
124. Nieves DS, Phipps R P, Pollock SJ, Ochs HD, Zhu Q, Scott GA, Ryan CK, Kobayashi I, Rossi TM, Goldsmith LA (2004) Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Arch Dermatol 140:466-472
125. Nistala K, Gilmour KC, Cranston T, Davies EG, Goldblatt D, Gaspar HB, Jones AM (2001) X-linked lymphoproliferative disease: three atypical cases. Clin Exp Immunol 126:126-130
126. Ohadi M, Lalloz MR, Sham P, Zhao J, Dearlove AM, Shiach C, Kinsey S, Rhodes M, Layton DM (1999) Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet 64:165-171
127. Okano M, Bashir RM, Davis JR, Purtilo DT (1991) Detection of primary Epstein-Barr virus infection in a patient with X-linked lymphoproliferative disease receiving immunoglobulin prophylaxis. Am J Hematol 36:294-296
128. Okano M, Gross TG (1996) Epstein-Barr virus-associated hemophagocytic syndrome and fatal infectious mononucleosis. Am J Hematol 53:111-115
129. Oliveira JB, Bidere N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ (2007) NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci USA 104:8953-8958
130. Opferman JT, Korsmeyer SJ (2003) Apoptosis in the development and maintenance of the immune system. Nat Immunol 4:410-415
131. Ouachee-Chardin M, Elie C, de Saint BG, Le Deist F, Mahlaoui N, Picard C, Neven B, Casanova JL, Tardieu M, Cavazzana-Calvo M, Blanche S, Fischer A (2006) Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics 117:e743-e750
132. Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs HD, Wolf H, Bonnefoy JY, Biassoni R, Moretta L, Notarangelo LD, Moretta A (2000) X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med 192:337-346
133. Pasquier B, Yin L, Fondaneche MC, Relouzat F, Bloch-Queyrat C, Lambert N, Fischer A, Saint-Basile G, Latour S (2005) Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med 201:695-701
134. Peake JE, McCrossin RB, Byrne G, Shepherd R (1996) X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 74:F195-F199
135. Perheentupa J (2006) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 91:2843-2850
136. Peter ME, Dhein J, Ehret A, Hellbardt S, Walczak H, Moldenhauer G, Krammer PH (1995) APO-1 (CD95) - dependent and -independent antigen receptor-induced apoptosis in human T and B cell lines. Int Immunol 7:1873-1877
137. Powell BR, Buist NR, Stenzel P (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100:731-737
138. Pracher E, Panzer-Grumayer ER, Zoubek A, Peters C, Gadner H (1994) Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis. Bone Marrow Transplant 13:655-658
139. Punnonen J, Cocks BG, Carballido JM, Bennett B, Peterson D, Aversa G, de Vries JE (1997) Soluble and membrane-bound forms of signaling lymphocytic activation molecule (SLAM) induce proliferation and Ig synthesis by activated human B lymphocytes. J Exp Med 185:993-1004
140. Purtilo DT, Cassel CK, Yang J P, Harper R (1975) X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1:935-940
141. Purtilo DT, Grierson HL, Davis JR, Okano M (1991) The X-linked lymphoproliferative disease: from autopsy toward cloning the gene 1975-1990. Pediatr Pathol 11:685-710
142. Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, Shenoy S (2007) Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 109:383-385
143. Rao VK, Carrasquillo JA, Dale JK, Bacharach SL, Whatley M, Dugan F, Tretler J, Fleisher T, Puck JM, Wilson W, Jaffe ES, Avila N, Chen CC, Straus SE (2006) Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol 81:81-85
144. Rao VK, Dugan F, Dale JK, Davis J, Tretler J, Hurley JK, Fleisher T, Puck J, Straus SE (2005) Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol 129:534-538
145. Rieux-Laucat F, Fischer A, Deist FL (2003) Cell-death signaling and human disease. Curr Opin Immunol 15:325-331
146. Rieux-Laucat F, Le Deist F, Fischer A (2003) Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. Cell Death Differ 10:124-133
147. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IA, Debatin KM, Fischer A, de Villartay JP (1995) Mutations in Fas associated with human
148. Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint BG, Latour S (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444:110-114
149. Roberts J, Searle J (1995) Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. Pediatr Pathol Lab Med 15:477-483
150. Roifman CM (2000) Human IL-2 receptor alpha chain deficiency. Pediatr Res 48:6-11
151. Rudd E, Goransdotter EK, Zheng C, Uysal Z, Ozkan A, Gurgey A, Fadeel B, Nordenskjold M, Henter JI (2006) Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet 43:e14
152. Sakamoto K, Seeley JK, Lindsten T, Sexton J, Yetz J, Ballow M, Purtilo DT (1982) Abnormal anti-Epstein Barr virus antibodies in carriers of the X-linked lymphoproliferative syndrome and in females at risk. J Immunol 128:904-907
153. Satake N, Nakanishi M, Okano M, Tomizawa K, Ishizaka A, Kojima K, Onodera M, Ariga T, Satake A, Sakiyama Y, (1993) A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr 152:313-315
154. Savoldo B, Heslop HE, Rooney CM (2000) The use of cytotoxic t cells for the prevention and treatment of epstein-barr virus induced lymphoma in transplant recipients. Leuk Lymphoma 39:455-464
155. Schubert LA, Jeffery E, Zhang Y, Ramsdell F, Ziegler SF (2001) Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation. J Biol Chem 276:37672-37679
156. Schuster V, Terhorst C (2007) X-linked lymphoproliferative disease due to defects of SH2D1A. 2nd: 470-484
157. Seemayer TA, Gross TG, Egeler RM, Pirruccello SJ, Davis JR, Kelly CM, Okano M, Lanyi A, Sumegi J (1995) X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res 38:471-478
158. Seidman EG, Lacaille F, Russo P, Galeano N, Murphy G, Roy CC (1990) Successful treatment of autoimmune enteropathy with cyclosporine. J Pediatr 117:929-932
159. Sharifi R, Sinclair JC, Gilmour KC, Arkwright PD, Kinnon C, Thrasher AJ, Gaspar HB (2004) SAP mediates specific cytotoxic T cell functions in X-linked lymphoproliferative disease. Blood 103:3821-3827
160. Shlapatska LM, Mikhalap SV, Berdova AG, Zelensky OM, Yun TJ, Nichols KE, Clark EA, Sidorenko SP (2001) CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A. J Immunol 166:5480-5487
161. Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA (2000) A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 108:423-427
162. Shotelersuk V, Gahl WA (1998) Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab 65:85-96
163. Slatter MA, Bhattacharya A, Abinun M, Flood TJ, Cant AJ, Gennery AR (2005) Outcome of boost haemopoietic stem cell transplant for decreased donor chimerism or graft dysfunction in primary immunodeficiency. Bone Marrow Transplant 35:683-689
164. Sleight BJ, Prasad VS, DeLaat C, Steele P, Ballard E, Arceci RJ, Sidman CL (1998) Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant 22:375-380
165. Sneller MC, Dale JK, Straus SE (2003) Autoimmune lymphoproliferative syndrome. Curr Opin Rheumatol 15:417-421
166. Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M, Strober W (1992) A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 90:334-341
167. Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS (2007) Perforin gene mutations in patients with acquired aplastic anemia. Blood 109:5234-5237
168. Soresina A, Lougaris V, Giliani S, Cardinale F, Armenio L, Cattalini M, Notarangelo LD, Plebani A (2002) Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. Eur J Pediatr 161:656-659
169. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint BG, Kumar V (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:1957-1959
170. Stinchcombe J, Bossi G, Griffiths GM (2004) Linking albinism and immunity: the secrets of secretory lysosomes. Science 305:55-59
171. Stinchcombe JC, Griffiths GM (2007) Secretory Mechanisms in Cell-Mediated Cytotoxicity. Annu Rev Cell Dev Biol 23:495-517
172. Strahm B, Rittweiler K, Duffner U, Brandau O, Orlowska-Volk M, Karajannis MA, Stadt U, Tiemann M, Reiter A, Brandis M, Meindl A, Niemeyer CM (2000) Recurrent B cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. Br J Haematol 108:377-382
173. Sullivan JL (2004) X-linked lymphoproliferative syndrome. 1:516-520
174. Sumegi J, Huang D, Lanyi A, Davis JD, Seemayer TA, Maeda A, Klein G, Seri M, Wakiguchi H, Purtilo DT, Gross TG (2000) Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 96:3118-3125
175. Sumegi J, Seemayer TA, Huang D, Davis JR, Morra M, Gross TG, Yin L, Romco G, Klein E, Terhorst C, Lanyi A (2002) A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses. Leuk Lymphoma 43:1189-1201
176. Suzuki H, Kundig TM, Furlonger C, Wakeham A, Timms E, Matsuyama T, Schmits R, Simard JJ, Ohashi PS, Griesser H,. (1995) Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. Science 268:1472-1476
177. Taguchi O, Takahashi T (1996) Administration of antiinterleukin-2 receptor alpha antibody in vivo induces localized autoimmune disease. Eur J Immunol 26:1608-1612
178. Tangye SG, Lazetic S, Woollatt E, Sutherland GR, Lanier LL, Phillips JH (1999) Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol 162:6981-6985
179. Taniguchi M, Harada M, Kojo S, Nakayama T, Wakao H (2003) The regulatory role of Valpha14 NKT cells in innate and acquired immune response. Annu Rev Immunol 21:483-513
180. Teachey DT, Manno CS, Axsom KM, Andrews T, Choi JK, Greenbaum BH, McMann JM, Sullivan KE, Travis SF, Grupp SA (2005) Unmasking Evans syndrome: T cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood 105:2443-2448
181. Teachey DT, Obzut DA, Axsom K, Choi JK, Goldsmith KC, Hall J, Hulitt J, Manno CS, Maris JM, Rhodin N, Sullivan KE, Brown VI, Grupp SA (2006) Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS). Blood 108:1965-1971
182. Teis D, Taub N, Kurzbauer R, Hilber D, de Araujo ME, Erlacher M, Offterdinger M, Villunger A, Geley S, Bohn G, Klein C, Hess MW, Huber LA (2006) p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis. J Cell Biol 175:861-868
183. van der Werff Ten Bosch, Schotte P, Ferster A, Azzi N, Boehler T, Laurey G, Arola M, Demanet C, Beyaert R, Thielemans K, Otten J (2002) Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations. Br J Haematol 117:176-188
184. Vowels MR, Tang RL, Berdoukas V, Ford D, Thierry D, Purtilo D, Gluckman E (1993) Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. N Engl J Med 329:1623-1625
185. Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ (1999) Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 98:47-58
186. Wei ML (2006) Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 19:19-42
187. Wildin RS, Freitas A (2005) IPEX and FOXP3: clinical and research perspectives. J Autoimmun 25 Suppl: 56-62
188. Wildin RS, Smyk-Pearson S, Filipovich AH (2002) Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 39:537-545
189. Willerford DM, Chen J, Ferry JA, Davidson L, Ma A, Alt FW (1995) Interleukin-2 receptor alpha chain regulates the size and content of the peripheral lymphoid compartment. Immunity 3:521-530
190. Williams LL, Rooney CM, Conley ME, Brenner MK, Krance RA, Heslop HE (1993) Correction of Duncan's syndrome by allogeneic bone marrow transplantation. Lancet 342:587-588
191. Wu C, Nguyen KB, Pien GC, Wang N, Gullo C, Howie D, Sosa MR, Edwards MJ, Borrow P, Satoskar AR, Sharpe AH, Biron CA, Terhorst C (2001) SAP controls T cell responses to virus and terminal differentiation of TH2 cells. Nat Immunol 2:410-414
192. Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD (1996) Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest 98:1107-1113
193. Wu Y, Borde M, Heissmeyer V, Feuerer M, Lapan AD, Stroud JC, Bates DL, Guo L, Han A, Ziegler SF, Mathis D, Benoist C, Chen L, Rao A (2006) FOXP3 controls regulatory T cell function through cooperation with NFAT. Cell 126:375-387
194. Yin L, Ferrand V, Lavoue MF, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla BS, Romeo G (1999) SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. Hum Genet 105:501-505
195. Zhu S, Hsu AP, Vacek MM, Zheng L, Schaffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 119:284-294
196. Ziegner UH, Ochs HD, Schanen C, Feig SA, Seyama K, Futatani T, Gross T, Wakim M, Roberts RL, Rawlings DJ, Dovat S, Fraser JK, Stiehm ER (2001) Unrelated umbilical cord stem cell transplantation for X-linked immunodeficiencies. J Pediatr 138:570-573
197. Zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nurnberg P, Janka G, Hennies HC (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet 14:827-834