BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency

Salem Al-Tamemi*, Zaid Alhinai, Najwa Al-Rahbi, Raghad Al-Abdawani, Laila Al-Yazidi, Jalila Al-Shekaili, Mahmood Al-Kindi, Almundher Al-Maawali

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Article number109067
Pages (from-to)109067
JournalClinical Immunology
Volume241
DOIs
Publication statusPublished - Aug 1 2022

Keywords

  • B-Cell CLL-Lymphoma 10 Protein/genetics
  • Female
  • Genetic Testing
  • Homozygote
  • Humans
  • Infant
  • Mutation
  • Severe Combined Immunodeficiency/diagnosis

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