Table 1.

Association of Primary Immunodeficiency Diseases with Autoimmunity and Autoinflammation

Disease or Syndrome	Mutant gene	Immunologic defect	1* manifestations	Autoimmune Manifestations
Common Variable Immunodeficiency (CVID)	TACI (TNFRSF13B) and others	hypogammaglobulinemia, humoral and T-lymphocyte dysfunction	recurrent chronic infections, particularly respiratory	inflammatory bowel disease autoimmune hemolytic anemia, thrombocytopenia, rheumatoid arthritis, and pernicious anemia [54,55]
Severe Combined Immunodeficiciency (SCID)	Multiple	Lymphocyte Development	failure to thrive, chronic mucocutaneous fungal infections, and/or opportunistic infections	alopecia, autoimmune thrombocytopenia[2,56]
Bruton Agammaglobulinemia	Bruton's tyrosine kinase	X-linked agammaglobulinemia	recurrent bacterial infections of the respiratory tract	juvenile rheumatoid arthritis, aseptic polyarthritis, dermatomyositis[24]
Hyper IgM syndrome (HIgM)	CD40 ligand and others	Ig Class switching defect leading to decreased IgG with normal to elevated IgM	sinopulmonary and GI infections with encapsulated bacteria. and lymphoid hyperplasia	diabetes mellitus, autoimmune hepatitis, rheumatoid arthritis, inflammatory bowel disease, and uveitis
Omenn Syndrome	Rag1; Rag2	T-B-NK+	exudative skin rash, lymphadenopathy, hepatosplenomegaly, eosinophilia, and hyper-IgE levels	part of primary syndrome[2,56]
Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED)	AIRE	nuclear transcription factor?	Hypoparathyroidism, chronic mucocutaneous candidiasis, adrenal insufficiency, primary hypogonadism, alopecia, vitiligo, pernicious anemia	part of primary syndrome
immunodysregulation polyendocrinopathy enteropathy X-linked syndrome(IPEX)	Foxp3	regulatory T-cells	Autoimmune thyroid diseae, excema, type I diabetes, eosinophilia, hyper IgE	Part of primary syndrome
Leukocyte Adhesion Deficiency (LAD1)	CD18; ITGB2	monocyte and neutrophil adhesion	recurrent bacterial infections	inflammatory bowel disease[53]
Wiskott-Aldrich Syndrome (WAS)	WASP	CD4 T-lymphocytes; regulatory T-cells	micro- thrombocytopenia with bleeding diathesis, eczema, recurrent infections	autoimmune hemolytic anemia, artirits, vasculitis, inflammatory bowel disease, glomerulonephritis
Chronic Granulomatous Disease (CGD)	CYBB and other components of the NOX2 NADPH oxidase complex	NADPH Oxidase	recurrent suppurative microbial infections, granuloma formation	chronic inflammation with granuloma formation, inflammatory bowel disease[57]