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Disorder	Inheritance	Gene Affected	Clinical Findings
Chronic mucocutaneous candidiasis	Autosomal dominant or recessive	STAT1 (dominant) AIRE (recessive)	Persistent or recurrent candidal infections, onychomycosis, autosomal recessive autoimmune polyendocrinopathy–candidosis-ectodermal dystrophy (with hypoparathyroidism and adrenal insufficiency)
DiGeorge syndrome	Autosomal dominant	Genes at chromosomal region 22q11.2 Genes at chromosome 10p13	Characteristic facial appearance with low-set ears, a congenital heart disorder (eg, aortic arch abnormalities), thymic hypoplasia or aplasia, hypoparathyroidism with hypocalcemic tetany, recurrent infections, developmental delay
X-linked lymphoproliferative syndrome	X-linked	SH2D1A (type 1) XIAP (type 2)	Asymptomatic until onset of Epstein-Barr virus infection, then fulminant or fatal infectious mononucleosis with liver failure, B-cell lymphomas, splenomegaly, aplastic anemia
Zeta-associated protein 70 (ZAP-70) deficiency	Autosomal recessive	ZAP-70	Common and opportunistic infections No CD8 cells
AIRE = autoimmune regulator; CD = clusters of differentiation; SH2D1A = SH2 domain containing 1A; STAT = signal transducer and activator of transcription; XIAP = X-linked inhibitor of apoptosis.