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293. Ku CL, von Bernuth H, Picard C, et al: Selective predisposition to bacterial infections in 308. Roesler J, Horwitz ME, Picard C, et al: Hematopoietic stem cell transplantation for
IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in pro- complete IFN-gamma receptor 1 deficiency: A multi-institutional survey. J Pediatr
tective immunity. J Exp Med 204:2407–2422, 2007. 145:806–812, 2004.
294. Kisand K, Boe Wolff AS, Podkrajsek KT, et al: Chronic mucocutaneous candidiasis 309. Rottman M, Soudais C, Vogt G, et al: IFN-gamma mediates the rejection of haemato-
in APECED or thymoma patients correlates with autoimmunity to Th17-associated poietic stem cells in IFN-gammaR1-deficient hosts. PLoS Med 5:e26, 2008.
cytokines. J Exp Med 207:299–308, 2010. 310. Vinh DC, Patel SY, Uzel G, et al: Autosomal dominant and sporadic monocytopenia
295. Puel A, Cypowyj S, Bustamante J, et al: Chronic mucocutaneous candidiasis in humans with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood
with inborn errors of interleukin-17 immunity. Science 332:65–68, 2011. 115:1519–1529, 2010.
296. Boisson B, Wang C, Pedergnana V, et al: An ACT1 mutation selectively abolishes 311. Hsu AP, Sampaio EP, Khan J, et al: Mutations in GATA2 are associated with the autoso-
interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity mal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC)
39:676–686, 2013. syndrome. Blood 118:2653–2655, 2011.
297. Glocker EO, Hennigs A, Nabavi M, et al: A homozygous CARD9 mutation in a family 312. Hahn CN, Chong CE, Carmichael CL, et al: Heritable GATA2 mutations associated
with susceptibility to fungal infections. N Engl J Med 361:1727–1735, 2009. with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet
298. Lanternier F, Barbati E, Meinzer U, et al: Inherited CARD9 deficiency in 2 unrelated 43:1012–1017, 2011.
patients with invasive exophiala infection. J Infect Dis 211(8):1241–50, 2015. 313. Ostergaard P, Simpson MA, Connell FC, et al: Mutations in GATA2 cause primary
299. Gavino C, Cotter A, Lichtenstein D, et al: CARD9 deficiency and spontaneous central lymphedema associated with a predisposition to acute myeloid leukemia (Emberger
nervous system candidiasis: Complete clinical remission with GM-CSF therapy. Clin syndrome). Nat Genet 43:929–931, 2011.
Infect Dis 59:81–84, 2014. 314. Kazenwadel J, Secker GA, Liu YJ, et al: Loss-of-function germline GATA2 mutations in
300. Al-Muhsen S, Casanova JL: The genetic heterogeneity of mendelian susceptibility to patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a
mycobacterial diseases. J Allergy Clin Immunol 122:1043–1051; quiz 52–53, 2008. key role for GATA2 in the lymphatic vasculature. Blood 119:1283–1291, 2012.
301. Prando C, Samarina A, Bustamante J, et al: Inherited IL-12p40 deficiency: Genetic, 315. Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, et al: Successful allogeneic
immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore) hematopoietic stem cell transplantation for GATA2 deficiency. Blood 118:3715–3720,
92:109–122, 2013. 2011.
302. Altare F, Durandy A, Lammas D, et al: Impairment of mycobacterial immunity in 316. Dupuis S, Dargemont C, Fieschi C, et al: Impairment of mycobacterial but not viral
human interleukin-12 receptor deficiency. Science 280:1432–1435, 1998. immunity by a germline human STAT1 mutation. Science 293:300–303, 2001.
303. Jirapongsananuruk O, Luangwedchakarn V, Niemela JE, et al: Cryptococcal osteomy- 317. Chapgier A, Kong XF, Boisson-Dupuis S, et al: A partial form of recessive STAT1 defi-
elitis in a child with a novel compound mutation of the IL12RB1 gene. Asian Pac J ciency in humans. J Clin Invest 119:1502–1514, 2009.
Allergy Immunol 30:79–82, 2012. 318. Hambleton S, Salem S, Bustamante J, et al: IRF8 mutations and human dendritic-cell
304. Vinh DC, Schwartz B, Hsu AP, et al: Interleukin-12 receptor beta1 deficiency predis- immunodeficiency. N Engl J Med 365:127–138, 2011.
posing to disseminated Coccidioidomycosis. Clin Infect Dis 52:e99–e102, 2011. 319. Bogunovic D, Byun M, Durfee LA, et al: Mycobacterial disease and impaired IFN-
305. Sologuren I, Boisson-Dupuis S, Pestano J, et al: Partial recessive IFN-gammaR1 defi- gamma immunity in humans with inherited ISG15 deficiency. Science 337:1684–1688,
ciency: Genetic, immunological and clinical features of 14 patients from 11 kindreds. 2012.
Hum Mol Genet 20:1509–1523, 2011. 320. Sullivan KE, Winkelstein JA: Genetically determined deficiencies of the comple-
306. Jouanguy E, Lamhamedi-Cherradi S, Lammas D, et al: A human IFNGR1 small dele- ment components, in Primary Immunodeficiency Diseases, A Molecular and Genetic
tion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Approach, 3rd ed, edited by Ochs HD, Smith CIE, Puck JM, p 757. Oxford University
Genet 21:370–378, 1999. Press, New York, 2014.
307. Dorman SE, Picard C, Lammas D, et al: Clinical features of dominant and recessive 321. Donoso LA, Vrabec T, Kuivaniemi H: The role of complement factor H in age-related
interferon gamma receptor 1 deficiencies. Lancet 364:2113–2121, 2004. macular degeneration: A review. Surv Ophthalmol 55:227–246, 2010.

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