T-B-NK+ severe combined immunodeficiency defects

Protein	Gene	Inheritance	Radiation sensitivity	V(D)J recombination	T cells	B cells	NK cells	Growth and central nervous system effects
RAG1	RAG1	AR	No	Yes	Absent to low	Absent to low	Abnormal^*	No
RAG2	RAG2	AR	No	Yes	Absent to low	Absent to low	Abnormal^*	No
Artemis	DCLRE1C	AR	Yes	Yes	Absent to low	Absent to low	Normal^*	No
DNA PKcs	PRKDC	AR	Yes	Yes	Absent to low	Absent to low	Normal	Yes
Cernunnos/XLF	NHEJ1	AR	Yes	Yes	Absent to low	Absent to low	Normal	Yes
DNA ligase IV	LIG4	AR	Yes	Yes	Absent to low	Absent to low	Normal	Yes

AR: autosomal recessive; ART-SCID: Artemis-deficient severe combined immunodeficiency; DCLRE1C: DNA cross-link repair 1C; DNA: deoxyribonucleic acid; LIG4: DNA ligase 4; NHEJ1: nonhomologous end-joining factor 1; NK: natural killer; PKcs: protein kinase catalytic subunit; PRKDC: protein kinase, DNA activated, catalytic subunit; RAG: recombination activating; SCID: severe combined immunodeficiency; V(D)J: variable, diversity, and joining; XLF: XRCC4-like factor.

* Published data suggest that NK cells are present in normal numbers but are immature and hyperactive in patients with ART-SCID, RAG-SCID, as well as other abnormal genotypes in the NHEJ pathway.^[1]

Reference:

Dobbs K, Tabellini G, Galzoni E, et al. Natural killer cells from patients with recombinase-activating gene and non-homologous end joining gene defects comprise a higher frequency of CD56bright NKG2A+++ cells, and yet display increased degranulation and higher perforin content. Front Immunol 2017; 8:798.

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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T-B-NK+ severe combined immunodeficiency defects