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 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.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
A Rare Cause of Bone Marrow Failure Syndrome and Immunodeficiency ; volume:5 ; number:1 ; year:2021 ; pages:46-49 ; extent:4
Dubai medical journal ; 5, Heft 1 (2021), 46-49 (gesamt 4)

Creator
Al-Doory, Sura Ahmed
Abdalqader, Amal Mahmoud
Mir, Fatima Farid
Saleh, Shafeeka Mohammed
Radaideh, Mahmoud Ahmed
Al Sabbah, Mohammed Ali

DOI
10.1159/000519579
URN
urn:nbn:de:101:1-2022032323334487738820
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:30 AM CEST

Data provider

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Associated

  • Al-Doory, Sura Ahmed
  • Abdalqader, Amal Mahmoud
  • Mir, Fatima Farid
  • Saleh, Shafeeka Mohammed
  • Radaideh, Mahmoud Ahmed
  • Al Sabbah, Mohammed Ali

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