Pediatric Infectious Disease

Register      Login

VOLUME 1 , ISSUE 1 ( January-March, 2019 ) > List of Articles

REVIEW ARTICLE

Mendelian Susceptibility to Mycobacterial Disease: A Clinical and Laboratory Approach

Keywords : Disseminated BCG infection, Interferon, Mycobacterial disease

Citation Information : Mendelian Susceptibility to Mycobacterial Disease: A Clinical and Laboratory Approach. Pediatr Inf Dis 2019; 1 (1):34-36.

DOI: 10.5005/jp-journals-10081-1108

License: CC BY-NC 4.0

Published Online: 01-06-2019

Copyright Statement:  Copyright © 2019; The Author(s).


Abstract

Mendelian susceptibility to mycobacterial disease (MSMD) is a group of rare genetic disorders characterized by increased susceptibility to infections with low-virulent mycobacteria like the Bacillus Calmette-Guérin (BCG) vaccines and the nontubercular environmental mycobacteria. These patients are also at increased risk of infections with non-typhoidal Salmonella, Candida, and Mycobacterium tuberculosis. In this article, we provide a clinical and laboratory approach to the diagnosis of MSMD. Various genetic defects causing MSMD and their treatment have been discussed.


PDF Share
  1. Bustamante J, Boisson-Dupuis S, Abel L, et al. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol 2014;26:454-470.
  2. Jouanguy E, Altare F, Lamhamedi S, et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 1996;335:1956-1961.
  3. Newport MJ, Huxley CM, Huston S, et al. A mutation in the interferongamma- receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996;335:1941-1949.
  4. Dorman SE, Picard C, Lammas D, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 2004; 364(9451):2113-2121.
  5. Obinata K, Lee T, Niizuma T, et al. Two cases of partial dominant interferon-ƒÁ receptor 1 deficiency that presented with different clinical courses of bacille Calmette-Guerin multiple osteomyelitis. J Infect Chemother 2013;19(4):757-760
  6. Vogt G, Chapgier A, Yang K, Chuzhanova N, et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005;37:692-700
  7. de Beaucoudrey L, Samarina A, Bustamante J, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010;89(6):381-402
  8. Filipe-Santos O, Bustamante J, Haverkamp MH, et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 2006;203(7):1745-1759
  9. Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, et al. Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunol Cell Biol 2018 Sep 28.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.