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Table 1 Molecular defects that can present as SCID.

From: Clinical experience in T cell deficient patients

Disease T cells B cells Immunoglobulin Other features
Defect in cytokine signaling     
Common γchain deficiency ↓↓ N or ↑ Markedly decreased NK cells
IL7Rα deficiency ↓↓ N or ↑ Normal NK cells
JAK3 deficiency ↓↓ N or ↑ Markedly decreased NK cells
Defect in VDJ recombination     
Artemis deficiency ↓↓ ↓↓  
Cernunnos/XLF deficiency Microcephaly & radiation sensitivity
DNA ligase IV Microcephaly & radiation sensitivity
RAG1/2 deficiency ↓↓ ↓↓  
Defects in TCR associated signaling     
CD3δ/ε/ξ deficiency ↓↓ N Normal NK cells
CD45 deficiency ↓↓ N Normal γ/δ T cells
Disorders of purine metabolism     
ADA deficiency Absent from birth or progressive ↓ Absent from birth or progressive ↓ Progressive ↓ Neurological & Radiological features
PNP deficiency Progressive ↓ N N or ↓ Neurological & autoimmune features
Other defects     
Reticular dysgenesis ↓↓ Normal or ↓ Arrested myeloid maturation
  1. ↓ = decreased, ↓↓ = markedly decreased, ↑ = increased, N = normal