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The Child with Recurrent Mycobacterial Disease

  • Pediatric Allergy and Immunology (W Dolen, Section Editor)
  • Published:
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Abstract

Purpose of Review

Many genetic conditions predispose affected individuals to opportunistic infections. A number of immunodeficiency diseases, including genetic defects termed Mendelian susceptibility to mycobacterial disease (MSMD), permit infection from many different strains of mycobacteria that would otherwise not cause disease. These include tuberculous and nontuberculous mycobacteria, and bacille Calmette-Guérin vaccine (BCG). Patients may present with infections from other organisms that depend on macrophage function for containment. Defects in multiple genes in the IL-12 and NFKB signaling pathways can cause the MSMD phenotype, some of which include IL12RB1, IL12B, IKBKG, ISG15, IFNGR1, IFNGR2, CYBB, TYK2, IRF8, and STAT1.

Recent Findings

Multiple autosomal recessive and dominant, and 2 X-linked recessive gene defects resulting in the MSMD phenotype have been reported, and others await discovery. This review presents the known gene defects and describes clinical findings that result from the mutations.

Summary

If MSMD is suspected, a careful clinical history and examination and basic immunodeficiency screening tests will narrow the differential diagnosis. A specific diagnosis requires more sophisticated laboratory investigation. Genetic testing permits a definitive diagnosis, permitting genetic counseling. Mild cases respond well to appropriate antibiotic therapy, whereas severe disease may require hematopoietic stem cell transplantation.

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  1. Department of Pediatrics, Allergy-Immunology and Pediatric Rheumatology Division, Medical College of Georgia at Augusta University, 1120 15th Street, Augusta, GA, 30912, USA

    Brian Reed & William K. Dolen

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Correspondence to William K. Dolen.

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Drs. Reed and Dolen declare no conflict of interest.

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This article is part of the Topical Collection on Pediatric Allergy and Immunology

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Reed, B., Dolen, W.K. The Child with Recurrent Mycobacterial Disease. Curr Allergy Asthma Rep 18, 44 (2018). https://doi.org/10.1007/s11882-018-0797-3

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