Identificación de mutaciones en el gen CYBB que llevan al fenotipo de la enfermedad granulomatosa crónica ligada al cromosoma X: Reporte de una nueva mutación

Agudelo‐Flórez, Piedad; Navarro, Sara; D, Pamela Luttges; López, Juan A.; R, Ximena Norambuena; S, Carmen Luz Navarrete; L, Arnoldo Quezada; Y, Michael Spencer; Condino‐Neto, Antônio; L, Mónica Cornejo De

doi:10.4067/s0034-98872006000800004

Cited by 4 publications

(4 citation statements)

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“…Thus, Pulvirenti et al [13] revealed that children with CGD showed greater difficulties in the social and school area, having more difficulty relating to peers and behavioral and emotional problems. Findings that are in line with the study by Varni et al [14,18], which reveals that in general psychosocial health and emotional functioning in children with chronic pathologies, as well as in their parents, is lower compared to healthy children, affecting the HRQoL of these children, patients and their parents. Cole et al [15,18] evaluated the quality of life of children with CGD who received a hematopoietic stem cell transplant (HSCT) and revealed that their HRQoL is good after HSCT, resulting in better emotional, social and school functioning.…”

Section: Introductionsupporting

confidence: 91%

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Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case

Astasio-Picado,

Palomo,

Zabala Baños

2023

Preprint

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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.

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Section: Introductionsupporting

confidence: 91%

“…The presence of bacterial and fungal infections and granulomas are mainly characteristic of EGC [18], with the response to viral infections being normal. Bacterial infections are usually symptomatic, accompanied by fever and leukocytosis; while fungal infections present with less fever and less leukocytosis.…”

Section: Diagnosticmentioning

confidence: 99%

Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case

Astasio-Picado,

Palomo,

Zabala Baños

2023

Preprint

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“…De las cinco proteínas que forman el de las EGC, y origina la forma ligada a X. Los defectos en los NCF1, NCF4 y NCF2, respectivamente, producen las formas autosómicas recesivas 3,7 .…”

Section: Discussionunclassified

“…La terapia génica con vectores retrovirales y lentiviral puede reconstituir la actividad de la NADPH oxidasa en las promedio de supervivencia de 40 años. En general, las tasas - [2][3][4][5] . con afectación pulmonar, ganglionar, ósea y de piel, y formación de granulomas.…”

Section: Discussionunclassified

Enfermedad granulomatosa crónica: tres casos clínicos con diferentes formas de presentación

Espinoza

Butte

Norambuena³

et al. 2015

Revista Chilena de Pediatría

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Considerations for Primary Immune Deficiency Disorders in South America

Carneiro‐Sampaio

2014

Stiehm's Immune Deficiencies

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Identificación de mutaciones en el gen CYBB que llevan al fenotipo de la enfermedad granulomatosa crónica ligada al cromosoma X: Reporte de una nueva mutación

Abstract: Background: The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is (Rev Méd Chile 2006; 134: 965-72).

Cited by 4 publications

References 11 publications

Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case

Multidisciplinary Approach to Primary Immunodeficiency Due to Defect in Innate Immunity: About a Case

Enfermedad granulomatosa crónica: tres casos clínicos con diferentes formas de presentación

Considerations for Primary Immune Deficiency Disorders in South America

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