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Innate immunodeficiencies: a group of primary immunodeficiencies predisposing exclusively to common diseases

Authors :
Marwa Refaat
Chaymae Oujane
Halima Kholaiq
Zahra Aadam
Abderrahmane Errami
Bouchra Baghad
Soufiane Boussetta
Assiya El Kettani
Ibtihal Benhsaien
Fatima Ailal
Asmaa Drissi Bourhanbour
Jalila El Bakkouri
Ahmed Aziz Bousfiha
Source :
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-12 (2024)
Publication Year :
2024
Publisher :
SpringerOpen, 2024.

Abstract

Abstract Background Innate immune deficiencies can impair both cellular and humoral immune responses. In contrast, other immune functions may appear normal, leading to increased susceptibility to specific pathogens, such as severe viral infections or Mendelian Susceptibility to Mycobacterial Disease (MSMD). Studying these deficiencies is essential for understanding the pathophysiology of these infectious diseases. Main body While primary immunodeficiencies (PIDs) generally cause vulnerability to multiple infections, innate immunodeficiencies increase susceptibility to specific pathogens, despite normal immune responses to others. Patients with these deficiencies show normal immunoglobulins and lymphocyte subpopulations, complicating diagnosis. This review highlights genetic susceptibility to mycobacteria, pneumococci, herpes simplex virus, and candidiasis, emphasizing recognizing this subset of PIDs. Conclusion This review highlights the diverse spectrum of genetic mutations contributing to defects in innate and intrinsic immunity, including Mendelian susceptibility to mycobacterial disease (MSMD), chronic mucocutaneous candidiasis, and predispositions to invasive bacterial and viral infections. Identifying key mutations in pathprovideh such as TLR3, IFN signaling, and IL-17A/F immunity provides valuable insights into the pathogenesis of these conditions. Our findings underscore the need for early genetic diagnosis and targeted interventions, particularly in regions with high undiagnosed cases, to reduce the morbidity and mortality associated with defects in innate and intrinsic immunity.

Details

Language :
English
ISSN :
20902441
Volume :
25
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Egyptian Journal of Medical Human Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.2c552d857e854588b061d0141c249eec
Document Type :
article
Full Text :
https://doi.org/10.1186/s43042-024-00604-4