Novel NCF2 Mutation Causing Chronic Granulomatous Disease.

Autor: Roth IL; Allergy and Clinical Immunology Unit, Meir Medical Center, Kfar-Saba and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Salamon P; The Herbert Mast Cell Disorders Center, Laboratory of Allergy and Clinical Immunology, Meir Medical Center, Kfar Saba, Israel., Freund T; Department of Medicine, Allergy and Clinical Immunology Unit, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, 6 Weizmann St, 64239, Tel Aviv, Israel., Gadot YB; Pediatric Pulmonary Institute and CF Center, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Baron S; Pediatric Hemato-oncology and Bone Marrow Transplantation Department, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Hershkovitz T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; The Genetic Institute, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Shefler I; The Herbert Mast Cell Disorders Center, Laboratory of Allergy and Clinical Immunology, Meir Medical Center, Kfar Saba, Israel., Hanna S; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Departments of Pediatric Immunology, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Confino-Cohen R; Allergy and Clinical Immunology Unit, Meir Medical Center, Kfar-Saba and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bentur L; Pediatric Pulmonary Institute and CF Center, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Hagin D; Department of Medicine, Allergy and Clinical Immunology Unit, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, 6 Weizmann St, 64239, Tel Aviv, Israel. Davidha@tlvmc.gov.il.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2020 Oct; Vol. 40 (7), pp. 977-986. Date of Electronic Publication: 2020 Jul 14.
DOI: 10.1007/s10875-020-00820-8
Abstrakt: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by defects in the NADPH oxidase complex. Mutations in NCF2 encoding the cytosolic factor p67 phox result in autosomal recessive CGD. We describe three patients with a novel c.855G>C NCF2 mutation presenting with diverse clinical phenotype. Two siblings were heterozygous for the novel mutation and for a previously described exon 8-9 duplication, while a third unrelated patient was homozygous for the novel mutation. Mutation pathogenicity was confirmed by abnormal DHR123 assay and absent p67 phox production and by sequencing of cDNA which showed abnormal RNA splicing. Clinically, the homozygous patient presented with suspected early onset interstitial lung disease and NCF2 mutation was found on genetic testing performed in search for surfactant-related defects. The two siblings also had variable presentation with one having history of severe pneumonia, lymphadenitis, and recurrent skin abscesses and the other presenting in his 30s with discoid lupus erythematosus and without significant infectious history. We therefore identified a novel pathogenic NCF2 mutation causing diverse and unusual clinical phenotype.
Databáze: MEDLINE
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