OBO ID: DOID:0111950
Term Name: immunodeficiency 29 Search Ontology:
Synonyms:
  • IL12B deficiency
  • IMD29
  • immunodeficiency 29, mycobacteriosis
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
  • MSMD due to complete IL12B deficiency
  • MSMD due to complete interleukin 12B deficiency
Definition: A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3. (2)
References:
Ontology: Human Disease   (DOID:0111950)
OTHER immunodeficiency 29 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL12B Immunodeficiency 29, mycobacteriosis 614890
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None