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Inflamm Bowel Dis. 2017 Dec;23(12):2252-2255. doi: 10.1097/MIB.0000000000001280.

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

Author information

1
*Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; ‡Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; §Department of Pediatrics, Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; ‖Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; ¶Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and **Department of Molecular Medicine, University of Rome Sapienza, Rome, Italy.

Abstract

BACKGROUND:

Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies.

METHODS:

In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings.

RESULTS:

Whole-exome sequencing revealed that the child was homozygous for a novel variant in ZBTB24, the gene associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome.

CONCLUSION:

This describes the first case of inflammatory bowel disease associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome in a child with a novel disease-causing mutation in ZBTB24 found on whole-exome sequencing.

PMID:
29023266
PMCID:
PMC5685903
DOI:
10.1097/MIB.0000000000001280
[Indexed for MEDLINE]
Free PMC Article

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