Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Synonyms
- IL12RB1 DEFICIENCY; Immunodeficiency 30
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
Clinical features
Help- Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent mycobacterial infections
Recurrent mycobacterial infections
- MedGen UID: 869021
- Concept ID: C4023438
- Finding: Finding
Abnormality of the immune system
- Immunodeficiency
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