IMD32A
MCID: IMM183
MIFTS: 26
|
Immunodeficiency 32a (IMD32A)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
|
|
MalaCards integrated aliases for Immunodeficiency 32a:
Characteristics:Orphanet epidemiological data:59
mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
two unrelated patients have been reported (last curated september 2013) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
34
|
OMIM
:
57
Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011). (614893)
MalaCards based summary : Immunodeficiency 32a, also known as imd32a, is related to immunodeficiency 32b. An important gene associated with Immunodeficiency 32a is IRF8 (Interferon Regulatory Factor 8). Affiliated tissues include myeloid, and related phenotypes are fever and abnormality of immune system physiology UniProtKB/Swiss-Prot : 74 Immunodeficiency 32A: An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections. |
Diseases related to Immunodeficiency 32a via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Immunodeficiency 32a:59 32
|
|
MalaCards organs/tissues related to Immunodeficiency 32a:41
Myeloid
|
Articles related to Immunodeficiency 32a:
|
ClinVar genetic disease variations for Immunodeficiency 32a:6 (show all 37)
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 32a:74
|
Search
GEO
for disease gene expression data for Immunodeficiency 32a.
|
|
|