Table 3.

Molecular diagnoses by gene

IUIS category	Condition	Gene	Number of patients	Genotypes
Antibody deficiencies	X-linked agammaglobulinemia	BTK	4	c.1631+5G>C (Intronic)
				c.1901G>C (p.Trp634Ser)
				c.496C>T (p.Gln166*)
				c.179_181del (p.Lys60del)
	X-linked hyper-IgM syndrome	CD40LG	2	c.474del (p.Lys159Asnfs*3)
				c.761C>T (p.Thr254Met)
Autoinflammatory deficiencies	Polyarteritis nodosa	ADA2	2	c.1085G>A (p.Trp362*) (hom)
				c.973-2A>G (Splice acceptor); c.934C>T (p.Arg312*)
CID with associated or syndromic features	Ataxia-telangiectasia	ATM	2	c.4019_4029del (p.Leu1340Cysfs*10); c.2817del (p.Lys940Asnfs*9)
				c.3802del (p.Val1268*); c.2921+1G>A (Splice donor)
	CHARGE syndrome	CHD7	1	c.4944_4945del (p.Tyr1649Leufs*3)
	Immunodeficiency-centromeric instability-facial anomalies syndrome	DNMT3B	1	c.1838T>C (p.Val613Ala); c.2292G>T (p.Arg764Ser)
	Hepatic veno-occlusive disease with immunodeficiency	SP110	1	c.686dup (p.Gln231Profs*5) (hom)
Disorders of immune dysregulation	Hermansky-Pudlak syndrome	AP3B1	1	c.779G>A (p.Trp260*) (hom)
	LRBA deficiency	LRBA	2	c.3286_3287del (p.Phe1096Leufs*3) (hom)
				Deletion (Exon 35) (hom)
	X-linked lymphoproliferative disease	XIAP	1	c.664C>T (p.Arg222*)
Diseases of intrinsic and innate immunity	STAT1 gain-of-function; mycobacterial disease	STAT1	1	c.820C>T (p.Arg274Trp)
Immunodeficiencies affecting cellular and humoral immunity	Adenosine deaminase deficiency	ADA	1	c.218+1G>A (Splice donor) (hom)
	Severe combined immunodeficiency	NHEJ1	2	c.178-1G>A (Splice acceptor) (hom)
				c.178-1G>A (Splice acceptor) (hom)
	Severe combined immunodeficiency	RAG1	2	c.2275C>T (p.Arg759Cys); c.1228C>T (p.Arg410Trp)
				c.322C>T (p.Arg108*); c.1835A>G (p.His612Arg)
	Severe combined immunodeficiency	RAG2	1	c.686G>A (p.Arg229Gln) (hom)
	Severe combined immunodeficiency	ZAP70	1	c.261C>G (p.Tyr87*) (hom)
Phagocytic defects	Chronic granulomatous disease	CYBB	1	c.742dup (p.Ile248Asnfs*36)
	Neutropenia	ELANE	2	c.607G>C (p.Gly203Arg)
				c.597+1G>A (Splice donor)