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Article

Inherited bone marrow failure with ERCC6L2 gene mutation: presentation of aplastic anemia in a 3-year-old child: a case report.

Journal of medical case reports - 29 Jun 2026

Mengistu Anteneh Girma, Heyi Yared Shiferaw, Temesgen Nathanael Elias, Aweke Selamawit Kassahun, Assale Natnael Mathewos, Tsega Hiwote Molla, Merahi Merahi Kefyalew

Abstract excerpt

BACKGROUND: Aplastic anemia is a rare hematologic disorder characterized by bone marrow hypoplasia and peripheral pancytopenia. While most pediatric cases are acquired, inherited bone marrow failure syndromes (IBMFS) are important differential diagnoses. ERCC6L2-associated IBMFS is a newly recognized and rare condition with significant implications for diagnosis and long-term care in hematology. CASE...

Read the complete abstract on PubMed

Topics

Humans
Female
Anemia, Aplastic
Child, Preschool
DNA Helicases
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Bone Marrow

Pancytopenia

Bone Marrow Failure Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 42374542
DOI: 10.1186/s13256-026-06265-8
PMCID: PMC13579715

Genes

ERCC6L2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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