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...
Enregistré dans:
| Auteurs principaux: | , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Karger Publishers
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/65cdb8a4c6784cf7bb1cdd8a9a7ef286 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
| Résumé: | 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. |
|---|