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Article

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

Clinical immunology (Orlando, Fla.) - 1 Aug 2022

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

Abstract excerpt

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...

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PMID: 35750252
DOI: 10.1016/j.clim.2022.109067

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