Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery
Esmaeilzadeh H, Rezaei N, Aminorroaya A, Rayzan E, Shahkarami S, Seyedpour S, Zoghi S, Aryan Z, Somekh I, Rohlfs M, Klein C. Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery. Endocrine Metabolic & Immune Disorders - Drug Targets 2023, 23: 410-415. PMID: 35996251, DOI: 10.2174/1871530322666220822141722.Peer-Reviewed Original ResearchConceptsRecurrent respiratory infectionsFacial anomaliesDNMT3B mutationsRecurrent infectionsCollateral arteriesFamily historyRespiratory infectionsHistory of recurrent respiratory infectionsAssociated with recurrent infectionsCentromeric instabilityFamily history of consanguinityRare autosomal recessive disorderRecurrent episodes of pneumoniaMonthly intravenous immunoglobulinProphylactic trimethoprim-sulfamethoxazolePrimary immune deficiencyBone marrow studyLow-set earsPatent ductus arteriosusEvaluation of neutropeniaEpisodes of pneumoniaHistory of consanguinityMild facial anomaliesAutosomal recessive disorderSystolic cardiac murmur