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

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.

"Virtual Interdisciplinary COVID-19 Team": A Hospital Pandemic Preparedness Approach.

The COVID-19 pandemic continues to move at record speed. Health systems and hospitals worldwide face unprecedented challenges to effectively prepare and respond to this extraordinary health crisis and anticipated surge. Hospitals should confront these unparalleled challenges with a comprehensive, multidisciplinary, coordinated, and organized strategy. We report our experience with the systematic application of the "4S" principle to guide our institutional preparedness plan for COVID-19. We used an innovative "virtual interdisciplinary COVID-19 team" approach to consolidate our hospital readiness.