Mendelian susceptibility to mycobacterial disease: 2014–2018 update

Jérémie Rosain, Xiao Fei Kong, Ruben Martinez-Barricarte, Carmen Oleaga-Quintas, Noé Ramirez-Alejo, Janet Markle, Satoshi Okada, Stéphanie Boisson-Dupuis, Jean Laurent Casanova, Jacinta Bustamante

Research output: Contribution to journalReview articlepeer-review

58 Scopus citations


Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. Since 1996, disease-causing mutations have been found in 11 genes, which, through allelic heterogeneity, underlie 21 different genetic disorders. We briefly review here progress in the study of molecular, cellular and clinical aspects of MSMD since the last comprehensive review published in 2014. Highlights include the discoveries of (1) a new genetic etiology, autosomal recessive signal peptide peptidase-like 2 A deficiency, (2) TYK2-deficient patients with a clinical phenotype of MSMD, (3) an allelic form of partial recessive IFN-γR2 deficiency, and (4) two forms of syndromic MSMD: RORγ/RORγT and JAK1 deficiencies. These recent findings illustrate how genetic and immunological studies of MSMD can shed a unique light onto the mechanisms of protective immunity to mycobacteria in humans.

Original languageEnglish (US)
Pages (from-to)360-367
Number of pages8
JournalImmunology and Cell Biology
Issue number4
StatePublished - Apr 2019


  • IFN-γ
  • mycobacterium
  • next-generation sequencing
  • primary immunodeficiency

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Cell Biology


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