Cellular Immunity Deficiencies
Disorder | Inheritance | Gene Affected | Clinical Findings |
|---|---|---|---|
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) | |
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 | 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 | |
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. | |||