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Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery.
Aminorroaya, Arya; Rayzan, Elham; Shahkarami, Sepideh; Seyedpour, Simin; Zoghi, Samaneh; Aryan, Zahra; Somekh, Ido; Rohlfs, Meino; Klein, Christoph; Esmaeilzadeh, Hossein; Rezaei, Nima.
Affiliation
  • Aminorroaya A; Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Rayzan E; Non-Communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Shahkarami S; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Seyedpour S; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Zoghi S; Department of Pediatrics, Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, LMU Munich, Munich, Germany.
  • Aryan Z; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Somekh I; Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
  • Rohlfs M; Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Klein C; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Esmaeilzadeh H; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Rezaei N; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Vienna, Austria.
Article in En | MEDLINE | ID: mdl-35996251
BACKGROUND: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder. ICF1 is caused by bi-allelic mutations in the gene encoding deoxyribonucleic acid methyltransferase-3B (DNMT3B). Herein, we report a novel homozygous DNMT3B mutation in a patient with ICF1. CASE PRESENTATION: An eight-month-old Iranian Caucasian infant of consanguineous 1st-degree cousins presented to our clinic for evaluation of neutropenia. Physical examination was unremarkable except for low-set ears and a systolic cardiac murmur. He had a history of recurrent respiratory infections and oral thrush. Moreover, a collateral artery between the bronchial and pulmonary arteries was observed on the angiogram, mimicking a patent ductus arteriosus on the echocardiogram. Growth percentiles were normal; however, he had a neurodevelopmental delay. Family history was significant for a sibling who deceased at nine months of age after recurrent respiratory infections. Laboratory evaluation revealed a normal white blood cell count with neutropenia and normal bone marrow studies. He had hypogammaglobinemia with normal flow cytometric studies and was treated with prophylactic trimethoprim-sulfamethoxazole and itraconazole. After that, he was re-admitted three times due to recurrent episodes of pneumonia and an episode of pseudomonas aeruginosa meningitis. Currently, he is five years old and doing well on monthly intravenous immunoglobulin. Due to recurrent infections, hypogammaglobulinemia, and neutropenia, as well as a family history of consanguinity and a sibling who deceased during infancy, a primary immune deficiency was suspected. Genetic studies utilizing whole-exome sequencing demonstrated a homozygous missense mutation in DNMT3B (LRG_56t1:c.2008C>T; p.Arg670Trp) in the patient studied. The mutation has not been previously reported. CONCLUSION: We describe a novel homozygous DNMT3B mutation in an Iranian boy with ICF1. It is associated with recurrent infections, hypogammaglobinemia, neutropenia, mild facial anomalies, and a bronchopulmonary collateral artery.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Respiratory Tract Infections / Primary Immunodeficiency Diseases / Immunologic Deficiency Syndromes / Neutropenia Limits: Child, preschool / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Endocr Metab Immune Disord Drug Targets Year: 2023 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Respiratory Tract Infections / Primary Immunodeficiency Diseases / Immunologic Deficiency Syndromes / Neutropenia Limits: Child, preschool / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Endocr Metab Immune Disord Drug Targets Year: 2023 Document type: Article