Immunodeficiency 34, Mycobacteriosis, X-Linked malady
Categories: Genetic diseases (common), Immune diseases
Aliases & Descriptions for Immunodeficiency 34, Mycobacteriosis, X-Linked:
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance: x-linked recessive inheritance
Global: Genetic diseases (common)
Anatomical: Immune diseases
UniProtKB/Swiss-Prot:67 Immunodeficiency 34: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette- Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals.
MalaCards based summary: Immunodeficiency 34, Mycobacteriosis, X-Linked, is also known as familial, x-linked, atypical mycobacteriosis 2, and has symptoms including recurrent mycobacterial infectionsand severe recurrent varicella. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (Cytochrome B-245, Beta Polypeptide).
OMIM:49 IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG)... (300645) more...
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:67
Clinvar genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:5
Search GEO for disease gene expression data for Immunodeficiency 34, Mycobacteriosis, X-Linked.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet