The Child with Recurrent Mycobacterial Disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pulmonary and Respiratory Medicine,Immunology and Allergy,Immunology
Link
http://link.springer.com/article/10.1007/s11882-018-0797-3/fulltext.html
Reference44 articles.
1. Robinson RT, Huppler AR. The Goldilocks model of immune symbiosis with Mycobacteria and Candida colonizers. Cytokine. 2017;97:49–65. https://doi.org/10.1016/j.cyto.2017.05.015 .
2. • Boisson-Dupuis S, Bustamante J, El-Baghdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264(1):103–20. https://doi.org/10.1111/imr.12272 . This review, not limited to MSMD, focuses on predisposing factors for childhood tuberculosis.
3. • Louvain de Souza T, de Souza Campos Fernandes RC, Azevedo da Silva J, Gomes Alves Junior V, Gomes Coelho A, Souza Faria AC, et al. Microbial disease spectrum linked to a novel IL-12Rbeta1 N-terminal signal peptide stop-gain homozygous mutation with paradoxical receptor cell-surface expression. Front Microbiol. 2017;8:616. https://doi.org/10.3389/fmicb.2017.00616 . This case report describes the clinical presentation of 4 children with MSMD and reviews the features of IL12RB1 inactivation.
4. •• Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol. 2014;26(6):454–70. https://doi.org/10.1016/j.smim.2014.09.008 . This is a very detailed review of the causes of MSMD.
5. • Lee WI, Huang JL, Wu TS, Lee MH, Chen IJ, Yu KH, et al. Patients with inhibitory and neutralizing auto-antibodies to interferon-gamma resemble the sporadic adult-onset phenotype of Mendelian susceptibility to mycobacterial disease (MSMD) lacking Bacille Calmette-Guerin (BCG)-induced diseases. Immunobiology. 2013;218(5):762–71. https://doi.org/10.1016/j.imbio.2012.08.281 . Autoantibodies to IFNγ can produce the clinical phenotype of MSMD in adults.
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