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Break through the mold: Hyper-IgE syndrome as a vehicle for invasive aspergillosis.
Respir Med Case Rep
December 2024
Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
Hyperimmunoglobulin E syndrome (HIGES) is a rare immunodeficiency characterized by high levels of immunoglobulin E (IgE) in the setting of various clinical features such as cutaneous candidiasis, asthma, recurrent rashes, and fungal infections. This case describes a 70-year-old male with cachexia and dyspnea found to have a cavitary lesion and aspergilloma, with remarkably high IgE and positive 1,3-β-D-glucan and Aspergillus testing. Herein, we describe the aforementioned case, review the available literature, and hypothesize the connection between invasive fungal infections and HIGES.
View Article and Find Full Text PDFLong-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry.
Rheumatol Ther
December 2024
Division of Paediatric Rheumatology and Autoinflammation Reference Centre Tübingen, Department of Paediatrics, University Hospital Tübingen; Member of ERN-RITA, Tübingen, Germany.
Introduction: Interim analysis of the long-term safety and effectiveness of canakinumab, at a patient level, in the mevalonate kinase deficiency/hyperimmunoglobulin-D syndrome (MKD/HIDS) cohort of the RELIANCE registry.
Methods: From June 2018, the RELIANCE registry enrolled paediatric (aged ≥ 2 years) and adult patients (aged ≥ 18 years) with MKD/HIDS who were receiving canakinumab as part of their routine medical care. Safety, physician- and patient-reported measures of disease activity and dosing patterns were evaluated at baseline and every 6 months until end-of-study visit.
Clinical and immunological features of four patients with activation-induced cytidine deaminase deficiency: Renal amyloidosis and other presentations.
Ann Hum Genet
January 2025
Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Introduction: Activation-induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and/or autoinflammation. AID plays an important role in immunoglobulin class switching and somatic hypermutation. AID deficiency patients have very low or absent levels of IgG, IgA, and IgE, while IgM level is elevated.
View Article and Find Full Text PDFDOCK8 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.
Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review.
Pediatr Dermatol
October 2024
Division of Pediatric Dermatology, Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.
Hyperimmunoglobulin E syndrome (HIES) is a group of rare genetic disorders characterized by severe atopic dermatitis and recurrent skin and pulmonary infections. The efficacy of dupilumab in pediatric patients with HIES-associated severe atopic dermatitis is relatively understudied. Here, we present a series of three children with HIES, two with AD-HIES caused by STAT3 mutations, and one with AR-HIES caused by biallelic mutations in ZNF341.
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