Table 1.

Overview of autoimmune manifestations of primary immune deficiency

Disease	Genes	Autoimmunity
Severe combined immunodeficiency (SCID)	Many	Alopecia, dermatitis, thrombocytopenia
X-linked agammaglobulinaemia (XLA)	BTK	Juvenile rheumatoid arthritis and rheumatoid arthritis/dermatomyosisits
Autoimmune polyendocrinopathy	AIRE	Endocrine
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX)	FoxP3	Juvenile diabetes, cytopenias, dermatitis, enteropathy
Wiskott–Aldrich	WASP	Haemolytic anaemia, Henoch–Schonlein inflammatory bowel disease, vasculitis
Chronic granulomatous disease (CGD)	NADPH oxidase	Inflammatory bowel disease, mothers with systemic lupus erythmatosus
Hyper-IgM	CD40L and others	Autoimmune hepatitis, rheumatoid arthritis, inflammatory bowel disease, uveitis, diabetes
Common variable immune deficiency (CVID)	TACI/ICOS/CD19 CD81, CD20, BAFFr	Immune thrombocytopenia purpura, haemolytic anemia, alopecia pernicious anaemia, systemic lupus erythmatosus, inflammatory bowel disease

NADPH: nicotinamide adenine dinucleotide phosphate-oxidase; IPEX: X-linked inheritance; FoxP3: forkhead box P2; WASP: Wiskott–Aldrich syndrome protein; BAFF: B cell activating factor; TACI: transmembrane activator and calcium-modulating ligand interactor; AIRE: autoimmune regulator gene; BTK: Bruton agammaglobulinaemia tyrosine kinase.