Human gene defects responsible for severe T cell deficiency

ADA: adenosine deaminase; ATM: ataxia-telangiectasia mutated; CBL: casitas B-lineage lymphoma; CIITA: class II transactivator; DNMT3β: DNA cytosine-5 methyltransferase 3 beta; ER: endoplasmic reticulum; FOXN1: forkhead box N1; GADS: GRB2-related adaptor protein; IL-2Rγ: interleukin-2 receptor gamma-chain; IL-7: interleukin-7; IL-7Rα: IL-7 receptor alpha-chain; JAK: Janus kinase; LAT: linker for activation of T cells; LIG4: ligase IV; MRE11A: meiotic recombination 11 homologue A; Nibrin: Nijmegen breakage syndrome 1; PNP: purine nucleoside phosphorylase; CRACM1: calcium release-activated calcium modulator 1; RAG: recombination-activating gene; RFX5: regulatory factor X5; RFXANK: RFX-associated ankyrin-containing protein; RFXAP: RFX-associated protein; RMRP: RNA component of mitochondrial RNA-processing endoribonuclease; SLP76: SRC-homology-2-domain-containing leukocyte protein of 76 kDa; SMARCAL1: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a-like 1; SP110: SP110 nuclear body protein; STAT5B: signal transducer and activator of transcription 5B; TAP: transporter associated with antigen processing; TAPBP: TAP-binding protein; TSAD: T-cell-specific adaptor protein; ZAP70: zeta-chain-associated protein kinase of 70 kDa; DNAPKcs: DNA-dependent protein kinase, catalytic subunit; MST1: mammalian sterile 20-like protein kinase 1; DOCK8: dedicator of cytokinesis 8; MAGT1: magnesium transporter protein 1; STIM1: stromal interaction molecule 1; MHC: major histocompatibility complex; TCR: T cell receptor; ζζ: zeta-zeta chains; δεγ: delta-epsilon-gamma chains; LCK: lymphocyte cell-specific protein tyrosine kinase; VAV: Vav 1 guanine nucleotide exchange factor; CBL-B: casitas B-lineage lymphoma proto-oncogene B; V(D)J: variable, diversity, and joining segments; Cerunnos: also called XRCC4-like factor (XLF), encoded by nonhomologous end-joining factor 1 (NHEJ1); Artemis: encoded by DNA crosslink repair 1C; Ca²⁺: ionized calcium.