중증 복합 면역결핍증
상염색체 열성
중증 복합 면역결핍증(SCID)은 기능하는 말초 T 림프구가 부족하여 생후 초기부터 심한 호흡기 감염이 발생하고 성장이 제대로 이루어지지 않는 것을 특징으로 하는 희귀 단일유전자 원발성 면역결핍 질환군입니다. 면역학적 표현형에 따라 T 세포는 없고 B 세포는 있는 형태(T-B+ SCID)와 T 세포와 B 세포가 모두 없는 형태(T-B- SCID)로 분류됩니다. 이 두 분류에는 자연살해(NK) 세포의 유무에 따라 여러 유형이 포함됩니다.
분석 유전자
다른 명칭
SCID; severe combined immunodeficiency (disease)
관련 하위 유형 51개 포함 ↓하위 유형 숨기기 ↑
- Cernunnos-XLF deficiency
- combined immunodeficiency due to partial RAG1 deficiency
- combined immunodeficiency with skin granulomas
- combined immunodeficiency, X-linked
- DNA ligase IV deficiency
- familial severe combined immunodeficiency
- immunodeficiency 104
- immunodeficiency 105
- immunodeficiency 18
- immunodeficiency 19
- immunodeficiency 25
- immunodeficiency 49
- immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- immunodeficiency 79
- Immunoerythromyeloid hypoplasia
- janus kinase-3 deficiency
- lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- MHC class II deficiency
- MHC class II deficiency 1
- MHC class II deficiency 2
- MHC class II deficiency 3
- MHC class II deficiency 4
- MHC class II deficiency 5
- neutrophil immunodeficiency syndrome
- Omenn syndrome
- recombinase activating gene 1 deficiency
- recombinase activating gene 2 deficiency
- reticular dysgenesis
- reticular dysgenesis-like severe combined immunodeficiency
- severe combined immunodeficiency due to CARD11 deficiency
- severe combined immunodeficiency due to CARMIL2 deficiency
- severe combined immunodeficiency due to CD70 deficiency
- severe combined immunodeficiency due to CORO1A deficiency
- severe combined immunodeficiency due to DCLRE1C deficiency
- severe combined immunodeficiency due to DNA-PKcs deficiency
- severe combined immunodeficiency due to IKK2 deficiency
- severe combined immunodeficiency due to LAT deficiency
- severe combined immunodeficiency due to LCK deficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- short-limb skeletal dysplasia with severe combined immunodeficiency
- T-B- severe combined immunodeficiency
- T-B+ severe combined immunodeficiency
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- T-B+ severe combined immunodeficiency due to CD45 deficiency
- T-B+ severe combined immunodeficiency due to gamma chain deficiency
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- T+ B+ severe combined immunodeficiency
