Table 3.

IEI causing genes identified in our series.

Category	Disease	Inheritance	Gene	Number of patients
Combined immunodeficiencies	T−B+ SCID	XL	IL2RG	1
	T−B− SCID	AR	RAG1	2
		AR	RAG2	1
		AR	ADA	1
	Omenn Syndrome	AR	RAG1	4
		AR	RAG2	1
	TlowB–/low leaky SCID	AR	RAG1	2
		AR	RAG2	2
		AR	DCLRE1C	1
		AR	LIG4	1
		AR	ADA	1
	TlowB+ leaky SCID	AR	CORO1A	2
	MHC-II deficiency	AR	RFXANK	10
	MHC-I deficiency	AR	TAP2	1
	HIMS	AR	CD40	2
	CD3γ deficiency	AR	CD3G	2
	FCHO1 deficiency	AR	FCHO1	2
	DOCK8 deficiency	AR	DOCK8	1
	SASH3 deficiency	XL	SASH3	1
	IKBKB deficiency	AR	IKBKB	1
	HELIOS deficiency	AR	IKZF2	1
CIDs with associated or syndromic features	Wiskott-Aldrich syndrome	XL	WAS	2
	Arp2/3-mediated filament branching defect	AR	ARPC1B	2
	AD-HIES STAT3 deficiency (Job syndrome)	AD	STAT3	1
	Vici syndrome	AR	EPG5	1
Predominantly antibody deficiencies	XLA	XL	BTK	7
	Activated p110δ syndrome	AD	PIK3CD GOF	2
	TACI deficiency	AD	TNFRSF13B	1
Diseases of immune dysregulation	Chediak-Higashi Syndrome	AR	LYST	7
	Munc13–4 deficiency (FHL3)	AR	UNC13D	1
	LRBA deficiency	AR	LRBA	3
	RIPK1 deficiency	AR	RIPK1	4
	Tripeptidyl-Peptidase II Deficiency	AR	TPP2	2
	ALPS-FAS	AR	TNFRSF6	2
Defects in intrinsic and innate immunity	MSMD	AR	IL12RB1	2
		AR	TYK2	1
	CMC	AD	STAT1 GOF	2
Autoinflammatory disorders	Blau syndrome	AD	NOD2	1
	A20 deficiency	AD	TNFAIP3	1
Complement deficiencies	C3 deficiency	AR	C3	2
	CD46 deficiency	AR	CD46	3
	CHAPLE disease	AR	CD55	6

ALPS, autoimmune lymphoproliferative syndrome; ARPC1B, actin related protein 2/3 complex subunit 1B; CHAPLE, complement hyperactivation angiopathic thrombosis and protein-losing enteropathy; CMC, chronic mucocutaneous candidiasis; FCHO1, F-BAR domain only protein 1; FHL, familial hemophagocytic lymphohistiocytosis; HIMS, hyper-IgM syndrome; HIES, hyper-IgE syndrome; IKBKB, inhibitor of nuclear factor kappa-B kinase, subunit beta; LRBA, LPS-responsive beige-like anchor protein; MHC, major histocompatibility complex; MSMD, mendelian susceptibility to mycobacterial disease; RIPK1, receptor-interacting serine/threonine-protein kinase 1; SCID, severe combined immunodeficiency; TACI, transmembrane activator and CAML interactor; WAS, Wiskott Aldrich syndrome; XLA, X-linked agammaglobulinemia.