A Rare Cause of Bone Marrow Failure Syndrome and Immunodeficiency

Abstract

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.

Keywords

• mysm-1 gene defect
• bone marrow failure
• immunodeficiency