Severe Combined Immunodeficiency [těžká kombinovaná imunodeficience]

topical
63
Terms

familiární retikuloendotelióza
imunodeficience kombinovaná těžká
Omennův syndrom
SCID
syndrom nahých lymfocytů
syndrom těžké kombinované imunodeficience
těžký kombinovaný imunodeficit

 

Bare Lymphocyte Syndrome
Immunodeficiency Syndrome, Severe Combined
Immunodeficiency, Severe Combined
Immunologic Deficiency, Severe Combined
Omenn Syndrome
Omenn's Syndrome
Reticuloendotheliosis, Familial
Severe Combined Immune Deficiency
Severe Combined Immunodeficiency Syndrome
Severe Combined Immunologic Deficiency

Persistent link   https://www.medvik.cz/link/D016511
Definition

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).

DUI
D016511 MeSH Browser
CUI
M0025203
Previous indexing
Immunologic Deficiency Syndromes (1974-1991)
History note
1992
Public note
1992

C Diseases
C16.320.798.250 Ataxia Telangiectasia 47
C16.320.798.313 Bloom Syndrome 11
C16.320.798.375 Chediak-Higashi Syndrome 4
C16.320.798.688 Job Syndrome 15
C16.320.798.875 Wiskott-Aldrich Syndrome 20
C16.614.053 Anemia, Neonatal 22
C16.614.092 Asphyxia Neonatorum 172
C16.614.131 Birth Injuries 158
C16.614.166 Colic 125
C16.614.213 Cystic Fibrosis 1 328
C16.614.378 Hernia, Umbilical 45
C16.614.438 Hydrophthalmos 9
C16.614.492 Ichthyosis 62
C16.614.595 Mobius Syndrome 10
C16.614.627 Neonatal Sepsis 35
C16.614.660 OEIS Complex
C16.614.810 Sclerema Neonatorum 2
C16.614.868 Syphilis, Congenital 87
C16.614.947 Wolman Disease 15
C18.452 Metabolic Diseases 1 196
C18.452.284.060 Ataxia Telangiectasia 47
C18.452.284.100 Bloom Syndrome 11
C18.452.284.250 Cockayne Syndrome 4
C18.452.284.280 Fanconi Anemia 46
C18.452.284.520 Li-Fraumeni Syndrome 39
C18.452.284.600 Nijmegen Breakage Syndrome 21
C18.452.284.760 Rothmund-Thomson Syndrome 7
C18.452.284.960 Werner Syndrome 14
C18.452.284.975 Xeroderma Pigmentosum 25
C20.673.795.250 Ataxia Telangiectasia 47
C20.673.795.313 Bloom Syndrome 11
C20.673.795.375 Chediak-Higashi Syndrome 4
C20.673.795.688 Job Syndrome 15
C20.673.795.875 Wiskott-Aldrich Syndrome 20

Athabaskan severe combined immunodeficiency Disease MeSH Browser

Bare Lymphocyte Syndrome, Type I Disease MeSH Browser

Bare Lymphocyte Syndrome, Type II, Complementation Group A Disease MeSH Browser

Bare lymphocyte syndrome 2 Disease MeSH Browser

Combined Cellular And Humoral Immune Defects With Granulomas Disease MeSH Browser

HLA class 1 deficiency Disease MeSH Browser

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Disease MeSH Browser

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Disease MeSH Browser

Reticular dysgenesis Disease MeSH Browser

Reticuloendotheliosis, X-linked Disease MeSH Browser

Reticuloendotheliosis, familial, with eosinophilia Disease MeSH Browser

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Disease MeSH Browser

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Disease MeSH Browser

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Disease MeSH Browser

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Disease MeSH Browser

Severe combined immunodeficiency due to adenosine deaminase deficiency Disease MeSH Browser

Severe combined immunodeficiency with sensitivity to ionizing radiation Disease MeSH Browser

Severe combined immunodeficiency, atypical Disease MeSH Browser

Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency Disease MeSH Browser

T-cell immunodeficiency, congenital alopecia and nail dystrophy Disease MeSH Browser

ZAP70 deficiency Disease MeSH Browser