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Mendelian susceptibility to mycobacterial disease: 2014-2018 update

Jérémie Rosain1,2,3, Xiao-Fei Kong4, Ruben Martinez-Barricarte4

  • 1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.

Immunology and Cell Biology
|September 29, 2018
PubMed

Insights

Mendelian susceptibility to mycobacterial disease (MSMD) is a group of genetic disorders affecting interferon-gamma (IFN-γ) immunity. Recent discoveries include new genetic causes and syndromic forms, enhancing our understanding of mycobacterial immunity.

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Mendelian susceptibility to mycobacterial disease (MSMD) results from inborn errors in IFN-γ immunity.
  • Over 21 genetic disorders have been identified, linked to mutations in 11 genes since 1996.

Purpose of the Study:

  • To review recent advancements in the molecular, cellular, and clinical aspects of MSMD since 2014.
  • To highlight new genetic etiologies and syndromic forms of MSMD.

Main Methods:

  • Literature review of recent studies on MSMD.
  • Analysis of genetic and immunological data from MSMD patients.

Main Results:

  • Discovery of autosomal recessive signal peptide peptidase-like 2 A deficiency as a new cause of MSMD.
  • Identification of TYK2 deficiency and syndromic forms (RORγ/RORγT, JAK1 deficiencies) associated with MSMD.
  • Characterization of a partial recessive IFN-γR2 deficiency.

Conclusions:

  • Recent findings expand the genetic landscape of MSMD.
  • These discoveries offer insights into human protective immunity against mycobacteria.
Keywords:
IFN-γmycobacteriumnext-generation sequencingprimary immunodeficiency

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