A Rare Cause of Bone Marrow Failure Syndrome and Immunodeficiency

A Rare Cause of Bone Marrow Failure Syndrome and Immunodeficiency

A 6-week-old boy presented to our hospital with upper respiratory tract infection and severe anemia on routine blood tests. The child underwent extensive investigations with bone marrow aspiration revealing pancytopenia and immune screening with B-cell deficiency. Whole-exome sequencing consolidated...

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Bibliographic Details
Main Authors: Sura Ahmed Al-Doory, Amal Mahmoud Abdalqader, Fatima Farid Mir, Shafeeka Mohammed Saleh, Mahmoud Ahmed Radaideh, Mohammed Ali Al Sabbah
Format: Article
Language:English
Published: Knowledge E 2021-10-01
Series:Dubai Medical Journal
Subjects:
mysm-1 gene defect
bone marrow failure
immunodeficiency
Online Access:https://www.karger.com/Article/FullText/519579
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Summary:A 6-week-old boy presented to our hospital with upper respiratory tract infection and severe anemia on routine blood tests. The child underwent extensive investigations with bone marrow aspiration revealing pancytopenia and immune screening with B-cell deficiency. Whole-exome sequencing consolidated the disease process as secondary to MYSM-1 homozygous gene mutation. Bone marrow transplant was performed at the age of 1 year with a fully matched sibling donor. Posttransplant cell counts and immune status normalized allowing the child a normal healthy life thereafter.
ISSN:2571-726X

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