49
Table 11. Classification of Primary Immunodeficiencies
a
Defect or disease(s) Gene(s)
Combined B- and T-cell immunodeficiencies
T
–
B
+
severe CID
IL-2R common gamma chain IL2RG
Janus kinase 3 JAK3
IL-7Ra chain IL7RA
IL-2Ra chain (CD25) deficiency IL2RA
CD45 (protein tyrosine phosphatase, receptor type, C) PTPRC
CD3δ CD3D
CD3ε CD3Z
CD3ζ CD3E
Coronin 1A CORO1A
T
–
B
–
SCID
Recombinase activating genes 1 and 2 RAG1/RAG2
DNA cross-link repair enzyme 1C (Artemis) DCLRE1C
DNA-dependent protein kinase PRKDC
Adenylate kinase 2 (reticular dysgenesis) AK2
Adenosine deaminase ADA
DNA ligase IV LIG4
Nonhomologous end-joining protein 1 (Cernunnos) NHEJ1
OS See SS 26
Less severe CID
Purine nucleoside phosphorylase NP
CD3γ CD3G
CD8α CD8A
ζ-Associated protein 70 kDa (ZAP-70) ZAP70
Calcium channel defects
Orai-1 ORAI1
Stromal interaction molecule 1 (Stim-1) STIM1
Magnesium channel defects
MAGT1 deficiency MAGT1
MHC class I deficiency
Classification of PIDD
