Imunodeficiență combinată severă
Autozomal recesivă
Imunodeficiența combinată severă (SCID) cuprinde un grup de tulburări rare de imunodeficiență primară monogenică, caracterizate prin lipsa limfocitelor T periferice funcționale, ceea ce determină infecții respiratorii severe cu debut precoce și eșec în creștere. Acestea sunt clasificate în funcție de fenotipul imunologic în SCID cu absența limfocitelor T, dar prezența limfocitelor B (SCID T-B+), sau SCID cu absența ambelor tipuri de limfocite (SCID T-B-). Ambele grupuri includ mai multe forme, cu sau fără celule natural killer (NK).
Gene analizate
Denumită și
SCID; severe combined immunodeficiency (disease)
Include 51 subtipuri înrudite ↓Ascunde subtipurile ↑
- 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
