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

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.

Current childhood chronic myeloid leukemia management under tyrosine kinase inhibitor treatment.

Chronic myeloid leukemia (CML) is very rare during childhood. Tyrosine kinase inhibitors (TKI) provide very good results in terms of survival. The medical records of 15 chronic phase (CP)-CML patients in a university hospital pediatric hematology department between 1997 and 2022 were reviewed retrospectively. Complete hematological response was documented in all patients between 20 and 68 (median 30) days of treatment. Major molecular response was achieved in seven patients within 6 months. Median follow-up for the study group was 79 (range 3-330) months and overall survival was 100%. Three patients (2 blastic transformation, 1 therapy resistant) underwent bone marrow transplantation (BMT) and one with blastic transformation is scheduled to undergo BMT. TKI were discontinued in three patients after a median of 86 (range 73-177) months. The complete molecular remission maintenance period before discontinuation of TKI was 81 (range 62-122) months. While no molecular relapse was seen before the last follow-up, the median overall follow-up period was 152 (range 131-300) months. In conclusion, recent advances have led to a very good prognosis for children with CP-CML. With TKI treatment, most patients continue their lives without disease progression. Additionally, in selected patients TKI can be discontinued without molecular relapse.