Immunodeficiency 34, Mycobacteriosis, X-Linked malady
Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Aliases & Descriptions for Immunodeficiency 34, Mycobacteriosis, X-Linked:
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases
Rare immunological diseases
UniProtKB/Swiss-Prot:68 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 atypical mycobacteriosis, familial, x-linked 2, and has symptoms including severe recurrent varicella and recurrent mycobacterial infections. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (Cytochrome B-245 Beta Chain).
OMIM:50 IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG)... (300645) more...
Genetic tests related to Immunodeficiency 34, Mycobacteriosis, X-Linked:
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:68
Clinvar genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:5
Search GEO for disease gene expression data for Immunodeficiency 34, Mycobacteriosis, X-Linked.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet