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primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.
Uniprot Description An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer.
Mondo Term and Equivalent IDs
MONDO:0012383: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C566492
NCIT:C123729
OMIM:609981
Orphanet:75391
SCTID:724275005
UMLS:C1864947
MONDO:0012383
High level summary of knowledge for a disease, including descriptions and datasource references.