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Related Experiment Video

Updated: Feb 8, 2026

Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure
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The Child with Recurrent Mycobacterial Disease.

Brian Reed1, William K Dolen2

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

Current Allergy and Asthma Reports
|June 25, 2018
PubMed
Summary
This summary is machine-generated.

Mendelian susceptibility to mycobacterial disease (MSMD) involves genetic defects causing increased risk of mycobacterial infections. Diagnosis requires genetic testing, with treatment ranging from antibiotics to stem cell transplantation.

Keywords:
Atypical mycobacteriaBacille Calmette-GuérinCandidaIFNγIL-12MSMDMendelian susceptibility to mycobacterial diseaseMycobacterium avium complexSalmonellaTuberculosis

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Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Genetic conditions predispose individuals to opportunistic infections.
  • Mendelian susceptibility to mycobacterial disease (MSMD) is a group of genetic immunodeficiencies allowing infections by various mycobacteria.
  • Defects in IL-12 and NFKB signaling pathways are implicated in MSMD.

Purpose of the Study:

  • To review known genetic defects causing MSMD.
  • To describe clinical findings associated with MSMD mutations.
  • To outline diagnostic and therapeutic approaches for MSMD.

Main Methods:

  • Review of reported autosomal recessive, dominant, and X-linked recessive gene defects in MSMD.
  • Correlation of genetic mutations with clinical manifestations.
  • Discussion of diagnostic strategies including clinical evaluation, screening tests, and genetic testing.
  • Overview of treatment options based on disease severity.

Main Results:

  • Multiple gene defects leading to MSMD have been identified, with more awaiting discovery.
  • Clinical presentation varies depending on the specific genetic mutation.
  • Genetic testing is crucial for definitive diagnosis and genetic counseling.
  • Treatment strategies are tailored to disease severity, including antibiotics and hematopoietic stem cell transplantation.

Conclusions:

  • MSMD encompasses a spectrum of genetic defects affecting immune responses to mycobacteria.
  • Early and accurate diagnosis through genetic testing is essential for effective management.
  • Treatment approaches are evolving, offering improved outcomes for patients with MSMD.