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The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.
Ameratunga, Rohan; Edwards, Emily S J; Lehnert, Klaus; Leung, Euphemia; Woon, See-Tarn; Lea, Edward; Allan, Caroline; Chan, Lydia; Steele, Richard; Longhurst, Hilary; Bryant, Vanessa L.
Afiliación
  • Ameratunga R; Department of Clinical immunology, Auckland Hospital, Auckland, New Zealand; Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand; Department of Molecular Medicine and Pathology, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland,
  • Edwards ESJ; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, and Allergy and Clinical Immunology Laboratory, Department of Immunology, Monash University, Melbourne, VIC, Australia.
  • Lehnert K; Applied Translational Genetics Group, School of Biological Sciences, University of Auckland, Auckland, New Zealand; Maurice Wilkins Centre, School of Biological Sciences, University of Auckland, Auckland, New Zealand.
  • Leung E; Auckland Cancer Society Research Centre, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
  • Woon ST; Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand.
  • Lea E; Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand.
  • Allan C; Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand.
  • Chan L; Department of Clinical immunology, Auckland Hospital, Auckland, New Zealand.
  • Steele R; Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand; Department of Respiratory Medicine, Wellington Hospital, Wellington, New Zealand.
  • Longhurst H; Department of Medicine, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
  • Bryant VL; Department of Immunology, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, Australia.
J Allergy Clin Immunol Pract ; 11(6): 1646-1664, 2023 06.
Article en En | MEDLINE | ID: mdl-36796510
The understanding of common variable immunodeficiency disorders (CVID) is in evolution. CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the disorder to be identified with greater precision. With the advent of next-generation sequencing (NGS), it has become apparent that an increasing number of patients with a CVID phenotype have a causative genetic variant. If a pathogenic variant is identified, these patients are removed from the overarching diagnosis of CVID and are deemed to have a CVID-like disorder. In populations where consanguinity is more prevalent, the majority of patients with severe primary hypogammaglobulinemia will have an underlying inborn error of immunity, usually an early-onset autosomal recessive disorder. In nonconsanguineous societies, pathogenic variants are identified in approximately 20% to 30% of patients. These are often autosomal dominant mutations with variable penetrance and expressivity. To add to the complexity of CVID and CVID-like disorders, some genetic variants such as those in TNFSF13B (transmembrane activator calcium modulator cyclophilin ligand interactor) predispose to, or enhance, disease severity. These variants are not causative but can have epistatic (synergistic) interactions with more deleterious mutations to worsen disease severity. This review is a description of the current understanding of genes associated with CVID and CVID-like disorders. This information will assist clinicians in interpreting NGS reports when investigating the genetic basis of disease in patients with a CVID phenotype.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inmunodeficiencia Variable Común / Agammaglobulinemia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Allergy Clin Immunol Pract Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inmunodeficiencia Variable Común / Agammaglobulinemia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Allergy Clin Immunol Pract Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos