Ciężki złożony niedobór odporności
Autosomalne recesywne
Ciężki złożony niedobór odporności (SCID) obejmuje grupę rzadkich, jednogenowych pierwotnych niedoborów odporności, które charakteryzują się brakiem funkcjonalnych limfocytów T obwodowych. Prowadzi to do ciężkich infekcji dróg oddechowych pojawiających się we wczesnym dzieciństwie oraz do zahamowania prawidłowego wzrostu i rozwoju. Ze względu na fenotyp immunologiczny wyróżnia się SCID z brakiem komórek T przy zachowanych komórkach B (SCID T-B+) oraz SCID z brakiem zarówno komórek T, jak i B (SCID T-B-). Obie te grupy obejmują kilka postaci, z obecnością lub bez komórek NK (natural killer).
Przeanalizowane geny
Znana również jako
SCID; severe combined immunodeficiency (disease)
Obejmuje 51 powiązanych podtypów ↓Ukryj podtypy ↑
- 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
