The Child with Recurrent Mycobacterial Disease

Brian Reed, William K Dolen

Research output: Contribution to journalReview article

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.

Original languageEnglish (US)
Article number44
JournalCurrent Allergy and Asthma Reports
Volume18
Issue number8
DOIs
StatePublished - Aug 1 2018

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BCG Vaccine
Phenotype
Recessive Genes
Nontuberculous Mycobacteria
X-Linked Genes
Inborn Genetic Diseases
Hematopoietic Stem Cell Transplantation
Opportunistic Infections
Genetic Counseling
Genetic Testing
Interleukin-12
Mycobacterium
Infection
Genes
Differential Diagnosis
Macrophages
Anti-Bacterial Agents
Mutation
Therapeutics

Keywords

  • Atypical mycobacteria
  • Bacille Calmette-Guérin
  • Candida
  • IFNγ
  • IL-12
  • MSMD
  • Mendelian susceptibility to mycobacterial disease
  • Mycobacterium avium complex
  • Salmonella
  • Tuberculosis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Pulmonary and Respiratory Medicine

Cite this

The Child with Recurrent Mycobacterial Disease. / Reed, Brian; Dolen, William K.

In: Current Allergy and Asthma Reports, Vol. 18, No. 8, 44, 01.08.2018.

Research output: Contribution to journalReview article

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