ArticleJournal of clinical immunology2020
Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 76 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.Journal of human immunity · 2026Article
- Cerebral amebiasis due toJournal of human immunity · 2026Article
- Perspectives on chronic granulomatous disease: results of a clinician survey.Frontiers in immunology · 2026Article
- Misleading presentation of tuberculosis in a child with CGD revealing invasive aspergillosis: A molecularly confirmed case.IDCases · 2026Article
- Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report.Frontiers in pediatrics · 2026Article
- First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics.Frontiers in immunology · 2026Review
- Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.Journal of human immunity · 2025Article
- Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.Journal of clinical immunology · 2025Article
- Description of invasive aspergillosis in Mexican patients with chronic granulomatous disease.Journal of human immunity · 2025Article
- Chronic Granulomatous Disease: A Multicentre Study of DHR Flow Cytometry Results and Clinical Correlations in Malaysia.The Malaysian journal of medical sciences : MJMS · 2025Article
- Clinical manifestations of 42 Moroccan patients with chronic granulomatous disease.Qatar medical journal · 2025Article
- Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospitalBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease.Journal of clinical immunology · 2024Article
- A Case of Chronic Granulomatous Disease Masquerading As Tubercular Lymphadenitis in an Infant.Cureus · 2024Article
- Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.Frontiers in pediatrics · 2024Review
- Duplication of Exons 8-9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease.Journal of clinical immunology · 2023Article
- Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.Journal of clinical immunology · 2023Article
- Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.Journal of clinical immunology · 2023Article
- Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.Microorganisms · 2023Review
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Authors and funding
53 authors at 16 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019.
methodsThirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds.
resultsEighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations.
conclusionsThe clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.
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