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GTR Home > Conditions/Phenotypes > Immunodeficiency 86

Immunodeficiency 86

Synonyms
Immunodeficiency 86, mycobacteriosis; Immunodeficiency 86, mycobacteriosis, autosomal recessive

Summary

Immunodeficiency-86 (IMD86) is an autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy that can be successfully treated without subsequent episodes (summary by Kong et al., 2018). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IMD86, IMP3, PSL2, SPPL2A
    Summary: signal peptide peptidase like 2A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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