Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.
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Abstract
Background: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare genetic autosomal recessive disorder that results in impaired immune system function, instability of the centromeric region of chromosomes, and distinct facial features. This is the first case report of ICF in Palestine.
Case presentation: A male child with recurrent respiratory tract infections, ear discharge and facial anomalies. Whole-exome sequencing was performed. A homozygous missense variant DNMT3B was identified, and the patient was diagnosed with ICF and was managed successfully with intravenous immunoglobulins.
Conclusion: ICF syndrome is a rare genetic disorder that affects the immune system. It has three common symptoms which are present in most cases. Treatments like immunoglobulin supplementation or allogeneic stem cell transplantation can improve the chances of survival and enhance the quality of life.
期刊介绍：
Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
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