Table 1 Newly identified PIDs

From: Education and worldwide collaboration pays off

Immunodeficiency disease

Disease-related gene

Innate immune defects

Autosomal recessive UNC-93B deficiency

UNC93B1

Autosomal recessive Tyk2 deficiency

TYK2

X-linked recessive MSMD

IKBKG

HAX-1 deficiency

HAX1

p14 deficiency

MAPBPIP

Adaptive immune defect

Immunoglobulin-β deficiency

CD79B

Defective immune regulation

XIAP deficiency

BIRC4

Hepatic VOD with immunodeficiency

SP110

Autosomal recessive IPEX syndrome

IL2RA

  1. UNC-93B, unc-93 homolog B1 (Caenorhabditis elegans); Tyk2, tyrosine kinase 2; MSMD, mendelian susceptibility to mycobacterial disease; HAX-1, hematopoietic cell–specific Lyn substrate 1–associated X 1; p14, endosomal adaptor protein; XIAP, X-linked inhibitor of apoptosis; VOD, veno-occlusive disease; IPEX, immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance.
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