Search Ontology:
Human Disease

immunodeficiency 29

Term ID
DOID:0111950
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 the IL12B gene on chromosome 5q33.3. (2)
References
Ontology
Human Disease   ( DOID:0111950 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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