/inherited susceptibility to mycobacterial diseases

/Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Rare Disease

MONDO:0013954

Also Known As

IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyMSMD due to complete IL12B deficiencyMSMD due to complete interleukin 12B deficiencyMendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiencyautosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12Bimmunodeficiency 29, mycobacteriosisimmunodeficiency type 29IL12B deficiencyIMD29immunodeficiency 29

Definition

Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.

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Associated Genes

IL12B ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614890 ↗

Orphanet

Orphanet:319558 ↗

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