Recessive Autosomal Mutation in the NCF2 Gene Encoding P67 PHOX, First Description of Such Mutation in the Literature in a Family with Chronic Granulomatous Disease in South America
Keywords:
Immunologic Deficiency Syndromes, Genetics, EpidemiologyAbstract
Introduction: Chronic granulomatous disease is a primary immunodeficiency characterized by the absence of peroxide production, secondary to a defect in the activation of the NADPH-oxidase enzymatic complex. It is caused by mutations in any of its components, whether they are located in the membrane (gp91phox and p22-phox) or in the cytosol (p47-phox and p67-phox).
Objectives: To present the scientific literature concerning the mutation observed in a family group in the NCF2 gene, responsible for the activation of superoxide dismutase.
Methods: A retrospective descriptive study with a review of clinical records.
Results: In a family follow-up, the presence of a recessive autosomal mutation in the NCF2 gene was demonstrated, for the first time, in several members of a family group in the region. NCF2 encodes for p67-phox, leading to an alteration in the production of superoxide. The case in question is the first description in the literature by the research group on immunodeficiencies at the University of the Andes in Mérida, Venezuela. The evaluation of superoxide dismutase activity was low in all three patients.
Conclusions: The mutations and genetic alterations responsible for most primary immunodeficiencies are not fully understood at the moment. Discovering new mutations, understanding how they generate the clinical picture, and, even more so, being able to develop effective long-term therapies will depend on the persistence and drive of researchers. The rest of the family group is under genetic counseling and multidisciplinary follow-up.
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Roos D, Boer MD. Retrotransposable genetic elements causing neutrophil defects. Eur J Clin Invest [Internet]. 2018 Nov 1 [cited 2022 Jan 18];48(2):e12953. Available from: https://onlinelibrary.wiley.com/doi/ full/10.1111/eci.12953
Slack MA, Thomsen IP. Prevention of Infectious Complications in Patients With Chronic Granulomatous Disease. J Pediatric Infect Dis Soc [Internet]. 2018 May 9 [cited 2022 Jan 18];7(suppl 1):S25–30. Available from: https://academic.oup.com/jpids/article/7/suppl_1/S25/4994086
Connelly JA, Marsh R, Parikh S, Talano JA. Allogeneic Hematopoietic Cell Transplantation for Chronic Granulomatous Disease: Controversies and State of the Art. J Pediatric Infect Dis Soc [Internet]. 2018 May 9 [cited 2022 Jan 18];7(suppl 1):S31–9. Available from: https://academic.oup.com/jpids/article/7/suppl_1/ S31/4994085
Henrickson SE, Jongco AM, Thomsen KF, Garabedian EK, Thomsen IP. Noninfectious Manifestations and Complications of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc [Internet]. 2018 May 9 [cited 2022 Jan 18];7(suppl_1):S18–24. Available from: https://academic.oup.com/jpids/article/7/suppl_1/ S18/4994084
Rider NL, Jameson MB, Creech CB. Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease. J Pediatric Infect Dis Soc [Internet]. 2018 May 9 [cited 2022 Jan 18];7(suppl_1):S2–5. Available from: https://academic.oup.com/jpids/article/7/suppl_1/S2/4994080
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