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GTR Home > Conditions/Phenotypes > Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Synonyms
IL12B DEFICIENCY; Immunodeficiency 29
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLMF, CLMF2, IL-12B, IMD28, IMD29, NKSF, NKSF2, IL12B
    Summary: interleukin 12B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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