Version 1
: Received: 21 September 2023 / Approved: 22 September 2023 / Online: 25 September 2023 (13:01:17 CEST)
How to cite:
Astasio-Picado, Á.; Palomo, J.J.; Zabala Baños, M.C. Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case. Preprints2023, 2023091668. https://doi.org/10.20944/preprints202309.1668.v1
Astasio-Picado, Á.; Palomo, J.J.; Zabala Baños, M.C. Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case. Preprints 2023, 2023091668. https://doi.org/10.20944/preprints202309.1668.v1
Astasio-Picado, Á.; Palomo, J.J.; Zabala Baños, M.C. Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case. Preprints2023, 2023091668. https://doi.org/10.20944/preprints202309.1668.v1
APA Style
Astasio-Picado, Á., Palomo, J.J., & Zabala Baños, M.C. (2023). Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case. Preprints. https://doi.org/10.20944/preprints202309.1668.v1
Chicago/Turabian Style
Astasio-Picado, Á., Jesus Jurado Palomo and Maria Carmen Zabala Baños. 2023 "Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case" Preprints. https://doi.org/10.20944/preprints202309.1668.v1
Abstract
Rationale: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency. Although most mutations are linked to the X chromosome, therefore affecting males, there are autosomal recessive forms that therefore affect both sexes. Clinically it is characterized by recurrent and severe bacterial and fungal infections, with formation of granulomas, due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytosed microorganisms. Patient concerns: We reported a 12-year-old boy with pneumonia with pneumatocele of possible staphylococcal etiology at one year of age, bilateral orchitis secondary to Salmonella with hematogenous spread, osteomyelitis due to Salmonella, gastroenteritis due to Salmonella enteritidis, liver abscesses due to Staphycococcus aureus and lymphomatoid papulosis and pyodermititis. Diagnoses: In the biochemical diagnosis, the presence of yellow dye (NBT) and absence of dark bluish black dye (formazan) was evidenced. Regarding the genetic diagnosis, the presence of the mutation in exon 10 of CYBB (OMIM 306400) (Xp21.1) that encodes the gp91phox protein was demonstrated. Interventions and outcomes: Treatment was started with trimethoprim/sulfamethoxazole 400/80 mg every 24 hours via oral, and antifungal prophylaxis with itraconazole 200 mg every 24 hours orally is added, after which he does not present serious bacterial or fungal infections, not being able to administer immunomodulatory treatment with recombinant human Interferon gamma-1b. Lessons: The clinical finding of frequent severe infections associated with granulomas, CGD should be suspected. Treatment of this primary immunodeficiency is trimethoprim/sulfamethoxazole and itraconazole. Importantly, it indicated that the mutation in exon 10 of CYBB (Xp21.1) that encodes the gp91phox might influence the pathogenesis of CGD.
Public Health and Healthcare, Public, Environmental and Occupational Health
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
