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Article

A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.

Journal of pediatric hematology/oncology - 1 Aug 2021

Topyildiz Ezgi, Edeer Karaca Neslihan, Bas Ilke, Aykut Ayca, Durmaz Asude, Guven Bilgin Raziye B, Aksu Guzide, Yilmaz Karapinar Deniz, Kutukculer Necil

Abstract excerpt

Although sideroblastic anemias (SAs) may be associated with different etiologies, deterioration of mitochondrial heme biosynthesis in bone marrow erythroid cells is a general abnormality. Congenital SA associated with immunodeficiency, periodic fever, and developmental delay is because of loss-of-function mutations in the TRNT1 gene. We report a patient with a novel homozygous mutation in the TRNT1 gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33843817
DOI: 10.1097/MPH.0000000000002101

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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