Unlabelled: CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for CHARGE syndrome, who had moderate or severe T-cell lymphopenia complicated by infections. The patients presented in Leicester, UK, between 2000 and 2007. All patients were negative for 22q11.2 deletions by FISH analysis, but mutations in the CHD7 gene were identified in three patients in whom the analysis was performed. Our cases indicate that patients with CHARGE syndrome may have a spectrum of T-cell immune deficiency, and that this association may be more common than has previously been appreciated. We recommend that all patients diagnosed with CHARGE syndrome should have lymphocyte subsets evaluated as part of their initial investigation.
Conclusion: Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency.
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http://dx.doi.org/10.1111/j.1651-2227.2008.01077.x | DOI Listing |
Am J Hum Genet
December 2024
Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address:
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFJ Thorac Oncol
December 2024
Department of Oncology, University of Turin, S. Luigi Gonzaga Hospital, Orbassano, (TO), Italy. Electronic address:
Background: To reduce the gap about the relevant heterogeneity of molecular testing and cancer care across Europe, Women Against Lung Cancer in Europe (WALCE) promoted the European Program for ROutine testing of Patients with Advanced lung cancer (EPROPA) and provided a free-of-charge molecular profiling platform for non-small cell lung cancer sample characterization with the aim of increasing the detection of targetable drivers and improving patients' access to clinical trials.
Methods: From January 2021 to December 2023, 20 centres located at 5 different European countries (Greece, Slovenia, Romania, Albania and Italy) joined EPROPA, with 555 advanced NSCLC patients registered into the program. Anonymized patients' clinical-pathological data were shared through the EPROPA web platform and tissue samples were collected to the Molecular Pathology Unit of the Reference Center (University of Turin) for molecular analyses.
Allergol Int
December 2024
Department of Dermatology, Hyogo Medical University Graduate School of Medicine, Nishinomiya, Japan.
Background: Schnitzler syndrome is an adult-onset autoinflammatory disease characterized by an urticaria-like rash and monoclonal gammopathy with fever and fatigue. Although some treatments have shown efficacy in clinical trials, no approved treatment exists. We aimed to assess canakinumab, an anti-IL-1β monoclonal antibody, in Japanese patients.
View Article and Find Full Text PDFCureus
November 2024
Radiodiagnosis, Amrita Institute of Medical Sciences, Kochi, IND.
This case series explores four distinct instances of encapsulating peritoneal sclerosis (EPS), a rare but serious condition characterized by the encapsulation of abdominal viscera, commonly referred to as abdominal cocoon. EPS is associated with severe complications, including bowel obstruction and sepsis, which can significantly impact patient outcomes. The first case involves a 41-year-old male patient who had undergone a liver transplant and ultimately succumbed to extensively drug-resistant (XDR) sepsis.
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