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DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.
Clin Immunol
November 2024
Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:
Article Synopsis
- DOCK8 deficiency causes most cases of autosomal recessive hyper-immunoglobulin E syndrome (HIES) due to mutations that disrupt protein expression, but some patients show symptoms without identifiable mutations.
- Researchers used Whole Exome Sequencing to discover a deep intronic DOCK8 variant in two patients that led to a significant alteration in protein structure and function.
- The findings indicate that non-coding mutations play a crucial role in immunodeficiency disorders, suggesting the need for further investigation into these types of mutations in unexplained immune system issues.
A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.
Immunogenetics
June 2024
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
X-linked hyper-immunoglobulin M (X-HIGM) syndrome and autosomal recessive hyper-immunoglobulin E syndrome (HIES) are rare inborn errors of immunity characterized by recurrent infections due to immune system impairment. In this study, we identified a novel hemizygous CD40 ligand (CD40L) mutation and compound heterozygous dedicator of cytokinesis-8 (DOCK8) mutations in two Han Chinese families with X-HIGM and HIES, respectively. We aimed to investigate the association between their genotypes and phenotypes.
View Article and Find Full Text PDFOcular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.
Clin Exp Rheumatol
October 2023
Autoinflammatory Diseases Clin Unit & Vasculitis Research Unit, Dept of Autoimmune Diseases, Hosp Clínic Barcelona, Univ of Barcelona, Inst d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica(XUEC) for Autoinflammatory Diseases, Barcelona, Spain.
Article Synopsis
- * Among 46 patients, conjunctivitis (56.5%) and uveitis (50%) were the most common eye conditions, with cataracts and posterior synechiae being the primary structural complications.
- * The findings indicate that this cohort experienced less severe eye involvement compared to previous studies primarily focused on children, with effective treatment leading to good visual outcomes for most patients.
Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome.
BMC Surg
September 2023
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: STAT3 hyperimmunoglobulin E syndrome (STAT3-HIES) also referred to as autosomal dominant HIES (AD-HIES) is an inborn error of immunity characterized by the classic triad of eczema, frequent opportunistic infections, and elevated serum IgE levels. As a consequence of lung sequels due to repeated infections and impaired tissue healing, patients may require interventional pulmonary procedures.
Method: Four patients with dominant-negative STAT3 mutations who had received interventional pulmonary procedures were enrolled.
Varicella Zoster Virus-Specific Hyperimmunoglobulin in the Adjuvant Treatment of Immunocompromised Herpes Zoster Patients: A Case Series.
Dermatol Ther (Heidelb)
October 2023
Hematology and Cell Therapy, Medical Clinic and Policlinic 1, University Hospital Leipzig, University of Leipzig, Leipzig, Germany.
Introduction: Immunocompromised patients are at increased risk for herpes zoster (HZ)-associated complications. Despite standard therapy with systemic antiviral drugs and analgesics, complications are frequently encountered, including generalization of lesions or persistent neuropathic pain, so-called post-herpetic neuralgia (PHN). Given the scarcity of literature and awareness of therapeutic options to improve patient outcomes, especially for vulnerable patient groups, here we describe a strategy based on early intensification of treatment with a varicella zoster virus-specific hyperimmunoglobulin (VZV-IgG), which is approved in the adjuvant treatment of HZ.
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