Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics*
• Abnormalities, Multiple / immunology
• Agammaglobulinemia / diagnosis
• Anemia, Sideroblastic / diagnosis
• B-Lymphocytes / immunology
• B-Lymphocytes / pathology
• Cardiomyopathy, Hypertrophic / diagnosis
• Developmental Disabilities / diagnosis
• Exome Sequencing / methods
• Homozygote
• Humans
• Infant
• Infections / diagnosis
• Male
• Mutation*
• Nucleotidyltransferases / genetics*
• Pedigree
• Recurrence
• T-Lymphocytes / immunology
• T-Lymphocytes / pathology