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Article

Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB.

Genes - 23 Sept 2021

Reis Bárbara C S, Cunha Daniela P, Bueno Ana Paula S, Carvalho Flavia A A, Dutra Juliana, Mello Fabiana V, Ribeiro Maria Cecília Menks, Milito Cristiane B, da Costa Elaine Sobral, Vasconcelos Zilton

Abstract excerpt

Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by impaired phagocyte function, recurrent fungal and bacterial infections and granuloma formation in multiple organs. Pediatric myelodysplastic Syndrome (MDS) is a rare hematological stem cell disease that leads to an ineffective hematopoiesis with variable risk of evolution to acute leukemias. Both disorders are rare and have...

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Identifiers

PMID: 34680870
DOI: 10.3390/genes12101476
PMCID: PMC8535487

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Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB.PMID 34680870Read ↗

Case report: a case of CYBB gene variant in X-linked chronic granulomatous disease.Semantic proximity Read ↗

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Hematologically important mutations: X-linked chronic granulomatous disease (third update).Semantic proximity Read ↗

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).Semantic proximity Read ↗

Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease.Semantic proximity Read ↗

Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.Semantic proximity Read ↗

Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.Semantic proximity Read ↗

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.Semantic proximity Read ↗

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.Semantic proximity Read ↗

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).Semantic proximity Read ↗

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.Semantic proximity Read ↗

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.Semantic proximity Read ↗

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