BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency
Copyright © 2022 Elsevier Inc. All rights reserved.
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 241(2022) vom: 01. Aug., Seite 109067 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , , , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2022
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| Zugriff auf das übergeordnete Werk: | Clinical immunology (Orlando, Fla.) |
| Schlagworte: | Journal Article Adenovirus BCL10 Hypogammaglobulinemia Oman Severe combined immunodeficiency B-Cell CLL-Lymphoma 10 Protein BCL10 protein, human |
| Zusammenfassung: | Copyright © 2022 Elsevier Inc. All rights reserved. BACKGROUND: Severe combined immunodeficiency (SCID) is characterized by severe, early-onset infection in infants. B-cell lymphoma/leukemia (BCL) 10 defects causing SCID have been reported previously in two patients MATERIAL & METHODS: A seven-month-old female infant was admitted with bilateral pneumonia requiring ventilatory support. She had a history of recurrent infections starting from four months of age. The patient was investigated for primary immunodeficiency RESULTS: Immunological investigations revealed hypogammaglobulinemia with normal CD4 and CD8 lymphocyte counts, while a lymphocyte proliferation assay showed absent response to phytohemagglutinin stimulation, thereby establishing the diagnosis of an atypical form of SCID. Genetic testing revealed a homozygous mutation in the BCL10 gene, with both parents demonstrating a heterozygous state (NM_003921.5:c.271A > C:p.[Thr91Pro]). The patient died before bone marrow transplantation due to severe disseminated adenovirus disease CONCLUSION: We report the first patient from the Middle East with a novel homozygous mutation in the BCL10 gene causing SCID |
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| Beschreibung: | Date Completed 09.08.2022 Date Revised 25.08.2022 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2022.109067 |