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Mendelian Susceptibility to Mycobacterial Disease with Signal Peptide Peptidase-like 2A (SPPL2A) Deficiency: A Case Report.

Iranian journal of allergy, asthma, and immunology - 6 Oct 2024

Esmaeilzadeh Hossein, Pouladfar Gholamreza, Gholami Mohammad Amin, Mohtadi Hasan

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by immunodeficiency, leading to increased susceptibility to mycobacterial infections. Studies have identified several genes that are associated with MSMD in the interferon-gamma/interleukin (IL)-12/IL-23 signaling pathway. One of these genes is signal peptide peptidase-like 2A (SPPL2A), which is very rare, and...

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PMID: 39586751
DOI: 10.18502/ijaai.v23i5.16753

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