Disease name

중증복합면역결핍증
 Severe combined immunodeficiency

Marker gene

Gene symbol Chromosome location Protein name
ADA 20q12-q13.1 Adenosine deaminase
AK2 1p35.1 Adenylate kinase 2, mitochondrial
CD3D 11q23.3 Lysosome membrane protein 2
DCLRE1C 10p13 Protein artemis
IL2RG Xq13.1 Cytokine receptor common subunit gamma
IL7R 5p13.2 Interleukin-7 receptor subunit alpha
JAK3 19p13.11 Tyrosine-protein kinase JAK3
NHEJ1 2q35 Non-homologous end-joining factor 1
PTPRC 1q31.3 Receptor-type tyrosine-protein phosphatase C
RAG2 11p12 V(D)J recombination-activating protein 2
CD3E 11q23.3 T-cell surface glycoprotein CD3 epsilon chain
RAG1 11p12 V(D)J recombination-activating protein 1
CD247 1q24.2 T-cell surface glycoprotein CD3 zeta chain
CORO1A 16p11.2 Coronin-1A
DOCK8 9p24.3 Dedicator of cytokinesis protein 8
ORAI1 12q24.31 Calcium release-activated calcium channel protein 1
STIM1 11p15.4 Stromal interaction molecule 1

MIM number

269840
300400
600802
601457
602450
608971

Synonym

SCID

Summary

Under development.