A Novel Homozygous TRNT1 Mutation in a Child with an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia
Makaleler > Tam Makale · 2021
Yazarlar: Ezgi TOPYILDIZ, Neslihan KARACA, Ilke Bas, Ayça AYKUT, Asude DURMAZ, Raziye B. Guven Bilgin, Güzide AKSU, Deniz Yilmaz Karapinar, Necil KÜTÜKÇÜLER
Journal of Pediatric Hematology/Oncology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2021, cilt 43, ss E780-E784
DOI: 10.1097/MPH.0000000000002101
Özet
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 presenting with anemia with siderocytes, hypogammaglobulinemia, hepatosplenomegaly, and brittle hair but without periodic fever or developmental delay. The patient was presented to emphasize the power of reverse phenotyping in the differential diagnosis of primary immunodeficiency patients with atypical features and to raise awareness for TRNT1 disease in case of coexistent SA and hypogammaglobulinemia.