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

H Esmaeilzadeh, G Pouladfar, MA Gholami… - Iranian Journal of …, 2024 - ijaai.tums.ac.ir
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder
characterized by immunodeficiency, leading to increased susceptibility to mycobacterial …

Mendelian Susceptibility to Mycobacterial Disease-A Diagnostic and Therapeutic Challenge

R Sanap, J David, N Chattopadhyay… - Indian Journal of …, 2024 - Springer
Hereby we report a case of an 8-y-old boy, second born of five children, born of third degree
consanguineous marriage, brought with c/o fever on and off and multiple swellings over the …

Genetic and immunological investigation of patients with mycobacterial diseases

U Tank - 2023 - open.metu.edu.tr
Mycobacteria are widespread bacteria with huge diversity that can be found in many
environments. Although over one-third of the human population is infected with …