Severe infectious diseases of childhood as monogenic inborn errors of immunity

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 51, 2015, Pages E7128-E7137

  Casanova, Jean Laurent ^a,b,c,d  

^a ROCKEFELLER UNIVERSITY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d IMAGINE INSTITUTE   (France)

Author keywords

Human genetics; Immunology; Infectious diseases; Pediatrics; Primary immunodeficiency

Indexed keywords

APOLIPOPROTEIN; FUCOSYLTRANSFERASE; GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR 1; INTERFERON REGULATORY FACTOR 7; INTERLEUKIN 12; INTERLEUKIN 17; RETINOID RELATED ORPHAN RECEPTOR GAMMA; STAT1 PROTEIN; TOLL LIKE RECEPTOR 3; TRANSCRIPTION FACTOR GATA 1; COMPLEMENT;

ADULT RESPIRATORY DISTRESS SYNDROME; CD4+ T LYMPHOCYTE; DERMATOPHYTOSIS; DISEASE SEVERITY; ENVIRONMENTAL DISEASE; EPIDERMODYSPLASIA VERRUCIFORMIS; EPSTEIN BARR VIRUS INFECTION; GENE IDENTIFICATION; GENE LOCUS; GENETIC DISORDER; GENETIC PREDISPOSITION; GENOTYPE; HEREDITY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INFECTION; INFLUENZA; KAPOSI SARCOMA; LYMPHOMA; LYMPHOPROLIFERATIVE DISEASE; MALARIA FALCIPARUM; MONOGENIC DISORDER; MUCOCUTANEOUS CANDIDIASIS; MYCOSIS; NOROVIRUS INFECTION; PHENOTYPE; PLASMODIUM VIVAX MALARIA; PNEUMOCOCCAL INFECTION; PRIMARY INFECTION; PRIORITY JOURNAL; REVIEW; SECONDARY INFECTION; SEVERE COMBINED IMMUNODEFICIENCY; STAPHYLOCOCCUS INFECTION; ADOLESCENT; BIOLOGICAL MODEL; CHILD; GENETICS; HERPES SIMPLEX ENCEPHALITIS; IMMUNOLOGY; MALARIA; MYCOBACTERIOSIS; NEISSERIA; PATHOGENICITY; TINEA; YOUNG ADULT;

ADOLESCENT; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; CHILD; COMPLEMENT SYSTEM PROTEINS; ENCEPHALITIS, HERPES SIMPLEX; EPIDERMODYSPLASIA VERRUCIFORMIS; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFECTION; INFLUENZA, HUMAN; INTERFERON-GAMMA; LYMPHOPROLIFERATIVE DISORDERS; MALARIA; MODELS, GENETIC; MODELS, IMMUNOLOGICAL; MYCOBACTERIUM INFECTIONS; NEISSERIA; PNEUMOCOCCAL INFECTIONS; TINEA; YOUNG ADULT;

EID: 84952685581     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1521651112     Document Type: Review

References (145)

1. Miller LH, Mason SJ, Clyde DF, McGinniss MH (1976) The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N Engl J Med 295(6): 302-304.
2. Miller LH, Mason SJ, Dvorak JA, McGinniss MH, Rothman IK (1975) Erythrocyte receptors for (Plasmodium knowlesi) malaria: Duffy blood group determinants. Science 189(4202): 561-563.
3. Casanova J-L (2015) Human genetic basis of interindividual variability in the course of infection. Proc Natl Acad Sci USA 112: E7118-E7127.
4. Tournamille C, Colin Y, Cartron JP, Le Van Kim C (1995) Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 10(2): 224-228.
5. Samson M, et al. (1996) Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 382(6593): 722-725.
6. Liu R, et al. (1996) Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 86(3): 367-377.
7. Dean M, et al. (1996) Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 273(5283): 1856-1862.
8. Marionneau S, et al. (2002) Norwalk virus binds to histo-blood group antigens present on gastroduodenal epithelial cells of secretor individuals. Gastroenterology 122(7): 1967-1977.
9. Lindesmith L, et al. (2003) Human susceptibility and resistance to Norwalk virus infection. Nat Med 9(5): 548-553.
10. Cooper MD, et al. (1973) Classification of primary immunodeficiencies. N Engl J Med 288(18): 966-967.
11. Fudenberg HH, et al. (1970) Classification of the primary immune deficiencies: WHO recommendation. N Engl J Med 283(12): 656-657.
12. Casanova JL, et al. (1996) Idiopathic disseminated bacillus Calmette-Guérin infection: A French national retrospective study. Pediatrics 98(4 Pt 1): 774-778.
13. Casanova JL, Jouanguy E, Lamhamedi S, Blanche S, Fischer A (1995) Immunological conditions of children with BCG disseminated infection. Lancet 346(8974): 581.
14. Mimouni J (1951) Notre expérience de trois années de vaccination à Constantine; étude de 25 cas de complications. Alger Med 55(8): 1138-1147.
15. Casanova JL, Abel L (2002) Genetic dissection of immunity to mycobacteria: The human model. Annu Rev Immunol 20: 581-620.
16. Heyne K (1976) Generalisatio BCG familiaris semibenigna, Osteomyelitis salmonellosa und Pseudotuberculosis intestinalis-Folgen eines familiären Makrophagendefektes. Eur J Pediatr 121(3): 179-189.
17. Newport MJ, et al. (1996) A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 335(26): 1941-1949.
18. Jouanguy E, et al. (1996) Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N Engl J Med 335(26): 1956-1961.
19. Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL (2014) Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-? immunity. Semin Immunol 26(6): 454-470.
20. Altare F, et al. (1998) Impairment of mycobacterial immunity in human interleukin- 12 receptor deficiency. Science 280(5368): 1432-1435.
21. Bogunovic D, et al. (2012) Mycobacterial disease and impaired IFN-? immunity in humans with inherited ISG15 deficiency. Science 337(6102): 1684-1688.
22. de Jong R, et al. (1998) Severe mycobacterial and Salmonella infections in interleukin- 12 receptor-deficient patients. Science 280(5368): 1435-1438.
23. Dupuis S, et al. (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293(5528): 300-303.
24. Dupuis S, et al. (2000) Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev 178: 129-137.
25. Nathan CF, Murray HW, Wiebe ME, Rubin BY (1983) Identification of interferongamma as the lymphokine that activates human macrophage oxidative metabolism and antimicrobial activity. J Exp Med 158(3): 670-689.
26. Wang X, et al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. J Immunol 154(10): 5464-5471.
27. Würzner R, et al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6. J Clin Invest 95(4): 1877-1883.
28. Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE (1996) Genetic bases of human complement C7 deficiency. J Immunol 157(9): 4239-4243.
29. Kaufmann T, et al. (1993) Genetic basis of human complement C8 beta deficiency. J Immunol 150(11): 4943-4947.
30. Kojima T, et al. (1998) Genetic basis of human complement C8 alpha-gamma deficiency. J Immunol 161(7): 3762-3766.
31. Westberg J, Fredrikson GN, Truedsson L, Sjöholm AG, Uhlén M (1995) Sequencebased analysis of properdin deficiency: Identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. Genomics 29(1): 1-8.
32. Biesma DH, et al. (2001) A family with complement factor D deficiency. J Clin Invest 108(2): 233-240.
33. Lim D, et al. (1976) Absence of the sixth component of complement in a patient with repeated episodes of meningococcal meningitis. J Pediatr 89(1): 42-47.
34. Petersen BH, Graham JA, Brooks GF (1976) Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity. J Clin Invest 57(2): 283-290.
35. Hiemstra PS, et al. (1989) Complete and partial deficiencies of complement factor D in a Dutch family. J Clin Invest 84(6): 1957-1961.
36. Rosenfeld SI, Kelly ME, Leddy JP (1976) Hereditary deficiency of the fifth component of complement in man. I. Clinical, immunochemical, and family studies. J Clin Invest 57(6): 1626-1634.
37. Harriman GR, et al. (1981) The role of C9 in complement-mediated killing of Neisseria. J Immunol 127(6): 2386-2390.
38. Snyderman R, Durack DT, McCarty GA, Ward FE, Meadows L (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred. Am J Med 67(4): 638-645.
39. Nagata M, et al. (1989) Inherited deficiency of ninth component of complement: An increased risk of meningococcal meningitis. J Pediatr 114(2): 260-264.
40. Lee TJ, Utsinger PD, Snyderman R, Yount WJ, Sparling PF (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. J Infect Dis 138(3): 359-368.
41. Sjöholm AG, Braconier JH, Söderström C (1982) Properdin deficiency in a family with fulminant meningococcal infections. Clin Exp Immunol 50(2): 291-297.
42. Owen EP, et al. (2015) A complement C5 gene mutation, c.754G>A: p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. Mol Immunol 64(1): 170-176.
43. Orth G (2008) Host defenses against human papillomaviruses: Lessons from epidermodysplasia verruciformis. Curr Top Microbiol Immunol 321: 59-83.
44. Orth G, et al. (1980) Epidermodysplasia verruciformis: A model for the role of papillomaviruses in human cancer. Cold Spring Harbor Conferences on Cell Proliferation 7: 259-282.
45. Lewandowsky F, Lutz W (1922) Ein Fall einer bisher nicht beschriebenen Hauterkrankung (Epidermodysplasia verruciformis). Arch Derm Syphilol 141: 193-203.
46. Cockayne EA (1933) Epidermodysplasia verruciformis. Inherited Abnormalities of the Skin and Its Appendages (Oxford Univ Press, London), p 156.
47. Lutz W (1946) A propos de l'epidermodysplasie verruciforme. Dermatologica 92(1): 30-43.
48. Ramoz N, et al. (2002) Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 32(4): 579-581.
49. Chapel H, Geha R, Rosen F; IUIS PID (Primary Immunodeficiencies) Classification committee (2003) Primary immunodeficiency diseases: An update. Clin Exp Immunol 132(1): 9-15.
50. Notarangelo L, et al.; International Union of Immunological Societies Primary Immunodeficiency diseases classification committee (2004) Primary immunodeficiency diseases: An update. J Allergy Clin Immunol 114(3): 677-687.
51. Crequer A, et al. (2013) EVER2 deficiency is associated with mild T-cell abnormalities. J Clin Immunol 33(1): 14-21.
52. Lazarczyk M, et al. (2008) Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. J Exp Med 205(1): 35-42.
53. Purtilo DT (1976) Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome. Lancet 2(7991): 882-885.
54. Purtilo DT, Cassel C, Yang JP (1974) Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis. N Engl J Med 291(14): 736.
55. Purtilo DT, Cassel CK, Yang JP, Harper R (1975) X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1(7913): 935-940.
56. Purtilo DT, et al. (1977) Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. N Engl J Med 297(20): 1077-1080.
57. Anonymous (1978) Immunodeficiency: Report of a WHO scientific group. World Health Organ Tech Rep Ser (630): 3-80.
58. Coffey AJ, et al. (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.
59. Sayos J, et al. (1998) The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395(6701): 462-469.
60. Nichols KE, et al. (1998) Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA 95(23): 13765-13770.
61. Palendira U, et al. (2012) Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. J Exp Med 209(5): 913-924.
62. Palendira U, et al. (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.
63. Tangye SG (2014) XLP: Clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. J Clin Immunol 34(7): 772-779.
64. Rigaud S, et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444(7115): 110-114.
65. Aguilar C, Latour S (2015) X-linked inhibitor of apoptosis protein deficiency: More than an X-linked lymphoproliferative syndrome. J Clin Immunol 35(4): 331-338.
66. Li FY, et al. (2014) XMEN disease: A new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. Blood 123(14): 2148-2152.
67. Li FY, et al. (2011) Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature 475(7357): 471-476.
68. Chilgren RA, Quie PG, Meuwissen HJ, Hong R (1967) Chronic mucocutaneous candidiasis, deficiency of delayed hypersensitivity, and selective local antibody defect. Lancet 2(7518): 688-693.
69. Wells RS, Higgs JM, Macdonald A, Valdimarsson H, Holt PJ (1972) Familial chronic muco-cutaneous candidiasis. J Med Genet 9(3): 302-310.
70. de Beaucoudrey L, et al. (2008) Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 205(7): 1543-1550.
71. Puel A, et al. (2010) Inborn errors of mucocutaneous immunity to Candida albicans in humans: A role for IL-17 cytokines? Curr Opin Immunol 22(4): 467-474.
72. Puel A, et al. (2011) Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332(6025): 65-68.
73. Ling Y, et al. (2015) Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med 212(5): 619-631.
74. Boisson B, et al. (2013) An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity 39(4): 676-686.
75. Liu L, et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 208(8): 1635-1648.
76. Okada S, et al. (2015) Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science 349(6248): 606-613.
77. Becattini S, et al. (2015) T cell immunity. Functional heterogeneity of human memory CD4? T cell clones primed by pathogens or vaccines. Science 347(6220): 400-406.
78. Hadida E, Schousboe A (1959) [Generalized trichophytosis with dermohypodermal & lymphnodal localizations due to Trichophyton of faviform culture (Trichophyton verrucosum)]. Minerva Dermatol 34(3): 225-231.
79. Blank F, Schopflocher P, Poirier P, Riopelle JL (1957) Extensive Trichophyton infections of about fifty years' duration in two sisters. Dermatologica 115(1): 40-51.
80. Lanternier F, et al. (2013) Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med 369(18): 1704-1714.
81. Glocker EO, et al. (2009) A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med 361(18): 1727-1735.
82. Lanternier F, et al. (2015) Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. J Infect Dis 211(8): 1241-1250.
83. Lanternier F, et al. (2015) Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both. J Allergy Clin Immunol 135(6): 1558-1568.
84. Fieschi C, et al. (2003) Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications. J Exp Med 197(4): 527-535.
85. de Beaucoudrey L, et al. (2010) Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries. Medicine (Baltimore) 89(6): 381-402.
86. Alcaïs A, Fieschi C, Abel L, Casanova JL (2005) Tuberculosis in children and adults: Two distinct genetic diseases. J Exp Med 202(12): 1617-1621.
87. Altare F, et al. (2001) Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 184(2): 231-236.
88. Boisson-Dupuis S, et al. (2011) IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One 6(4): e18524.
89. Caragol I, et al. (2003) Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis 37(2): 302-306.
90. Özbek N, et al. (2005) Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis 40(6): e55-e58.
91. Tabarsi P, et al. (2011) Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. J Clin Immunol 31(4): 537-539.
92. Abel L, El-Baghdadi J, Bousfiha AA, Casanova JL, Schurr E (2014) Human genetics of tuberculosis: A long and winding road. Philos Trans R Soc Lond B Biol Sci 369(1645): 20130428.
93. Picard C, Puel A, Bustamante J, Ku CL, Casanova JL (2003) Primary immunodeficiencies associated with pneumococcal disease. Curr Opin Allergy Clin Immunol 3(6): 451-459.
94. Abinun M (1995) Ectodermal dysplasia and immunodeficiency. Arch Dis Child 73(2): 185.
95. Döffinger R, et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27(3): 277-285.
96. Jain A, et al. (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2(3): 223-228.
97. Courtois G, et al. (2003) A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112(7): 1108-1115.
98. Picard C, et al. (2003) Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299(5615): 2076-2079.
99. von Bernuth H, et al. (2008) Pyogenic bacterial infections in humans with MyD88 deficiency. Science 321(5889): 691-696.
100. Picard C, et al. (2010) Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) 89(6): 403-425.
101. Casanova JL, Abel L, Quintana-Murci L (2011) Human TLRs and IL-1Rs in host defense: Natural insights from evolutionary, epidemiological, and clinical genetics. Annu Rev Immunol 29: 447-491.
102. Ku CL, et al. (2007) Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med 204(10): 2407-2422.
103. Frans G, et al. (October 15, 2015) PID in disguise: Molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome. J Clin Immunol, 10.1007/s10875-015-0205-x.
104. Gaschignard J, et al. (2014) Invasive pneumococcal disease in children can reveal a primary immunodeficiency. Clin Infect Dis 59(2): 244-251.
105. Mahlaoui N, et al. (2011) Isolated congenital asplenia: A French nationwide retrospective survey of 20 cases. J Pediatr 158(1): 142-148.
106. Bolze A, et al. (2013) Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 340(6135): 976-978.
107. Byun M, et al. (2010) Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 207(11): 2307-2312.
108. Byun M, et al. (2013) Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med 210(9): 1743-1759.
109. Vanhollebeke B, et al. (2006) Human Trypanosoma evansi infection linked to a lack of apolipoprotein L-I. N Engl J Med 355(26): 2752-2756.
110. Pays E, Vanhollebeke B, Uzureau P, Lecordier L, Pérez-Morga D (2014) The molecular arms race between African trypanosomes and humans. Nat Rev Microbiol 12(8): 575-584.
111. Steiner I, Benninger F (2013) Update on herpes virus infections of the nervous system. Curr Neurol Neurosci Rep 13(12): 414.
112. Abel L, et al. (2010) Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr 157(4): 623-629, 629.e1.
113. Dupuis S, et al. (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33(3): 388-391.
114. Puel A, et al. (2006) The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet 78(4): 691-701.
115. Filipe-Santos O, et al. (2006) X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 203(7): 1745-1759.
116. Casrouge A, et al. (2006) Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 314(5797): 308-312.
117. Guo Y, et al. (2011) Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med 208(10): 2083-2098.
118. Herman M, et al. (2012) Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med 209(9): 1567-1582.
119. Pérez de Diego R, et al. (2010) Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity 33(3): 400-411.
120. Sancho-Shimizu V, et al. (2011) Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest 121(12): 4889-4902.
121. Zhang SY, et al. (2007) TLR3 deficiency in patients with herpes simplex encephalitis. Science 317(5844): 1522-1527.
122. Andersen LL, et al. (2015) Functional IRF3 deficiency in a patient with herpes simplex encephalitis. J Exp Med 212(9): 1371-1379.
123. Lafaille FG, et al. (2012) Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature 491(7426): 769-773.
124. García-Sastre A, Palese P (1993) Genetic manipulation of negative-strand RNA virus genomes. Annu Rev Microbiol 47: 765-790.
125. Medina RA, García-Sastre A (2011) Influenza A viruses: New research developments. Nat Rev Microbiol 9(8): 590-603.
126. Palese P (2004) Influenza: Old and new threats. Nat Med 10(12, Suppl): S82-S87.
127. Ciancanelli M, Abel L, Zhang SY, Casanova JL (2015) Host genetics of influenza: From mouse Mx to human IRF7. Curr Opin Immunol, in press.
128. Ciancanelli MJ, et al. (2015) Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science 348(6233): 448-453.
129. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD (2014) Guidelines for genetic studies in single patients: Lessons from primary immunodeficiencies. J Exp Med 211(11): 2137-2149.
130. Casanova JL, Abel L, Quintana-Murci L (2013) Immunology taught by human genetics. Cold Spring Harb Symp Quant Biol 78: 157-172.
131. Casanova JL, Abel L (2004) The human model: A genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 4(1): 55-66.
132. Quintana-Murci L, Alcaïs A, Abel L, Casanova JL (2007) Immunology in natura: Clinical, epidemiological and evolutionary genetics of infectious diseases. Nat Immunol 8(11): 1165-1171.
133. Gaudillière JP, Löwy I (2001) Heredity and Infection (Routledge, London, New York), p 383.
134. Brodin P, et al. (2015) Variation in the human immune system is largely driven by non-heritable influences. Cell 160(1-2): 37-47.
135. Casanova JL, Abel L (2015) Disentangling inborn and acquired immunity in human twins. Cell 160(1-2): 13-15.
136. Anderson MS, Casanova JL (2015) More than Meets the Eye: Monogenic Autoimmunity Strikes Again. Immunity 42(6): 986-988.
137. Rieux-Laucat F, Casanova JL (2014) Immunology. Autoimmunity by haploinsufficiency. Science 345(6204): 1560-1561.
138. Crow YJ, Casanova JL (2014) STING-associated vasculopathy with onset in infancy-A new interferonopathy. N Engl J Med 371(6): 568-571.
139. Casanova JL, Abel L (2009) Revisiting Crohn's disease as a primary immunodeficiency of macrophages. J Exp Med 206(9): 1839-1843.
140. Pritchard JK (2001) Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69(1): 124-137.
141. Pritchard JK, Cox NJ (2002) The allelic architecture of human disease genes: Common disease-common variant..or not? Hum Mol Genet 11(20): 2417-2423.
142. McClellan J, King MC (2010) Genetic heterogeneity in human disease. Cell 141(2): 210-217.
143. Alcaïs A, et al. (2010) Life-threatening infectious diseases of childhood: Single-gene inborn errors of immunity? Ann N Y Acad Sci 1214(1): 18-33.
144. Etzioni A, Ochs H (2014) Primary Immunodeficiency Disorders. A Historic and Scientific Perspective (Academic, Oxford), pp 376-389.
145. Witzel-Schlömp K, et al. (1997) The human complement C9 gene: Identification of two mutations causing deficiency and revision of the gene structure. J Immunol 158(10): 5043-5049.