Table 1.

Autoimmunity in Selected T-cell associated Primary Immunodeficiences

Autoimmunity	APECED		OS		IPEX		WAS		ALPS
Mutated Gene	Aire		Rag1/2, Artemis Ligase4		Foxp3		WASP		Fas, FasL Caspase 8, 10 NRAS
Autoimmune manifestations	Hypoparathyroidism, Addison disease, Primary ovarian failure, IDDM, Hepatitis [2]		Erythrodermia, Enteropathy, Multiple organs lymphoid infiltration [6]		Enteropathy, IDDM, Eczema, Autoimmune Polyendocrinopathy [15]		AHA, Vasculitis, Arthritis, Renal disease, IBD [23]		AHA, Cytopenias [43,44]
Frequency of autoimmunity	almost 100%		100%		100%		40–72%		more than 80%
Patients/Mouse Models	Patients	Mice	Patients	Mice	Patients	Mice	Patients	Mice	Patients	Mice
Autoreactive T cells	↑ [2]	↑ [3,4]	↑ [9]	↑ [7,8]	↑ [14,15]	↑ [13]	↑ [23]	↑ [26]	↑ [43,44]	↑ [43,44]
Autoantibodies	↑ [15]	↑ [3,4]	na	na	↑ [15]	↑ [15]	↑ [24]	↑ [28]	↑ [43,44]	↑ [43,49]
Oligoclonal T repertoire	yes Tregs [22]	skewed [4]	yes [6,42]	yes [7,8]	na	na	yes [41]	na	na	na
Expression of Aire	↓ [2]	↓ [3,4]	↓ [9]	↓ [8]	na	na	na	na	na	na
Treg cell number	normal [22]	normal [31]	na	↓ [8]	↓ to normal [14,15]	↓ [13]	normal [27,30]	↓ to normal [28,29]	na	na
Treg cell function	↓ [22]	normal [31]	na	na	↓ [14,15]	↓ [13]	↓ [27,30]	↓ [27–29]	na	na
Lymphopenia	na	na	yes [6,42]	yes [7,8]	na	na	yes [36]	yes [25,32]	na	na
Homeostatic Proliferation	na	normal [4]	(↑) [42]	↑ [7]	na	na	(↑) [41]	na	na	na
Apoptosis	na	na	na	na	na	na	↑ [55,56]	na	na	↓ [43,44]
Apoptotic cell uptake	na	na	na	na	na	na	na	↓ [48]	na	↓ [47]

Abbreviations: AHA, autoimmune haemolytic anaemia; Aire, autoimmune response; ALPS, autoimmune lymphoproliferative syndrome; APECED, autoimmune polyendrocrinopathy candidiasis ectodermal dystrophy; FasL, Fas ligand; Foxp3, forkhead box P3; IDDM, insulin-dependent diabetes mellitus; IBD, inflammatory bowel disease; IPEX, immunodysregulation polyendocrinopathy enteropathy X-linked; na, not addressed; OS, Omenn syndrome; Rag, Recombination activating protein; Treg, regulatory T; WAS, Wiskott-Aldrich syndrome, WASP, WAS protein