Severe combined immunodeficiency defects

Disease	Gene	Inheritance	T cells	B cells	NK cells
Gamma-c deficiency (X-linked SCID, common gamma chain SCID)	IL2RG	X-linked	Absent to low	Normal to high	Low
Adenosine deaminase deficiency (ADA-SCID)	ADA	AR	Absent to low	Absent to low	Absent to low
IL-7R alpha deficiency	IL7R	AR	Absent to low	Normal	Normal
RAG1 deficiency	RAG1	AR	Absent to low	Absent to low	Normal
RAG2 deficiency	RAG2	AR	Absent to low	Absent to low	Normal
JAK3 deficiency	JAK3	AR	Absent to low	Normal to high	Low
DNA cross-link repair enzyme 1C (Artemis) deficiency	DCLRE1C	AR	Absent to low	Absent to low	Normal
CD45 deficiency	PTPRC	AR	Absent to low	Normal	Normal
BCL11B deficiency	BCL11B	AD	Low	Normal	Normal
Cartilage hair hypoplasia, RMRP deficiency	RMRP	AR (gene is not translated)	Low	Normal	Normal
CD3 delta	CD3D	AR	Absent to low	Normal	Normal
CD3 epsilon	CD3E	AR	Absent to low	Normal	Normal
CD3 zeta	CD247	AR	Absent to low	Normal	Normal
Cernunnos/XLF deficiency	NHEJ1	AR	Absent to low	Absent to low	Normal
Coronin-1A deficiency	CORO1A	AR	Absent to low	Normal	Normal
DNA ligase IV deficiency	LIG4	AR	Absent to low	Absent to low	Normal
DNA PKcs deficiency	PRKDC	AR	Absent to low	Absent to low	Normal
LAT deficiency	LAT	AR	Absent to low	Normal	Normal
RAC2 gain-of-function	RAC2	AD	Absent to low	Absent to low	Absent to low
Reticular dysgenesis	AK2	AR	Absent to low	Absent to low	Absent to low
TTC7A deficiency	TTC7A	AR	Absent to low	Normal to low	Normal

The 8 defects listed first are more common and listed in order of prevalence, with rare gene defects listed alphabetically below.

NK: natural killer; SCID: severe combined immunodeficiency; IL2RG: interleukin 2 receptor gamma; ADA: adenosine deaminase; AR: autosomal recessive; IL-7R: interleukin 7 receptor alpha chain; RAG: recombination activating; JAK3: Janus kinase 3; DCLRE1C: DNA cross-link repair 1C; PTPRC: protein tyrosine phosphatase, receptor type C; BCL11B: BAF chromatin remodeling complex subunit BCL11B; AD: autosomal dominant; RMRP: RNA component of mitochondrial RNA-processing endoribonuclease; CD3D: CD3d molecule; CD3E: CD3e molecule; CD247: CD247 molecule; XLF: XRCC4-like factor; NHEJ1: nonhomologous end-joining factor 1; CORO1A: coronin 1A; LIG4: DNA ligase 4; PKcs: protein kinase catalytic subunit; PRKDC: protein kinase, DNA activated, catalytic subunit; LAT: linker for activation of T cells; RAC2: Ras-related C3 botulinum toxin substrate 2; AK2: adenylate kinase 2; TTC7A: tetratricopeptide repeat domain 7A.

Adapted from: Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020; 40:24.

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Severe combined immunodeficiency defects