/inherited susceptibility to mycobacterial diseases

/Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Rare Disease

MONDO:0014502

Also Known As

ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyMSMD due to complete ISG15 deficiencyautosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15immunodeficiency 38IMD38ISG15 deficiency, autosomal recessiveimmunodeficiency 38 with basal ganglia calcificationimmunodeficiency 38, Mycobacteriosis, autosomal recessive

Definition

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.

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Associated Genes

ISG15 ↗

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

External Resources

OMIM

OMIM:616126 ↗

Orphanet

Orphanet:319563 ↗

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