Cargando…

The pediatric common variable immunodeficiency — from genetics to therapy: a review

Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency, characterized by remarkable genetic, immunological, and clinical heterogeneity. The diagnosis of pediatric CVID is challenging due to the immaturity of the immune response and sustained actively developing antibody af...

Descripción completa

Detalles Bibliográficos
Autores principales:	Szczawinska-Poplonyk, Aleksandra, Schwartzmann, Eyal, Bukowska-Olech, Ewelina, Biernat, Michal, Gattner, Stanislaw, Korobacz, Tomasz, Nowicki, Filip, Wiczuk-Wiczewska, Monika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964589/ https://www.ncbi.nlm.nih.gov/pubmed/34939152 http://dx.doi.org/10.1007/s00431-021-04287-6

Ejemplares similares

Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2022)

The B-cell compartment in antibody-deficient infants and young children – developing common variable immunodeficiency or transient immune maturation?
por: Szczawinska-Poplonyk, Aleksandra, et al.
Publicado: (2016)

Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2022)

Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2021)

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2023)

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2022)

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
por: Szczawinska-Poplonyk, Aleksandra, et al.
Publicado: (2020)

An Overlapping Syndrome of Allergy and Immune Deficiency in Children
por: Szczawinska-Poplonyk, Aleksandra
Publicado: (2012)

Development of Mucosal Immunity in Children: A Rationale for Sublingual Immunotherapy?
por: Szczawinska-Poplonyk, Aleksandra
Publicado: (2012)

Cytomegalovirus pneumonia as the first manifestation of severe combined immunodeficiency
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2014)

Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency
por: Szczawinska‐Poplonyk, Aleksandra, et al.
Publicado: (2012)

Pulmonary manifestation of immunoglobulin G4-related disease in a 7-year-old immunodeficient boy with Epstein-Barr virus infection: a case report
por: Szczawinska-Poplonyk, Aleksandra, et al.
Publicado: (2016)

Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2020)

Imaging in children with ataxia-telangiectasia—The radiologist’s approach
por: Jończyk-Potoczna, Katarzyna, et al.
Publicado: (2022)

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2023)

Hyper Ig E syndrome (Job syndrome, HIES) – radiological images of pulmonary complications on the basis of three cases
por: Jończyk-Potoczna, Katarzyna, et al.
Publicado: (2012)

Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review
por: Lee, Erika Yue, et al.
Publicado: (2022)

Common variable immunodeficiency - an update
por: Salzer, Ulrich, et al.
Publicado: (2012)

The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency
por: Szczawinska-Poplonyk, Aleksandra, et al.
Publicado: (2011)

Factors causing oral and skin pathological features in the hyperimmunoglobulin E syndrome patient including the environmental component: a review of the literature and own experience
por: Gerreth, Karolina, et al.
Publicado: (2020)

Immune Checkpoint Pathway Expression in Lymphocyte Subpopulations in Patients with Common Variable Immunodeficiency and Chronic Lymphocytic Leukemia
por: Mertowska, Paulina, et al.
Publicado: (2023)

Genetic defects in common variable immunodeficiency
por: Kopecký, O, et al.
Publicado: (2007)

Pathogenesis of autoimmunity in common variable immunodeficiency
por: Warnatz, Klaus, et al.
Publicado: (2012)

Autoimmune Cytopenias In Common Variable Immunodeficiency
por: Podjasek, Jenna C., et al.
Publicado: (2012)

Bronchiectasis caused by common variable immunodeficiency
por: Divino, Paulo Henrique do Amor, et al.
Publicado: (2015)

Common Variable Immunodeficiency and Circulating T(FH)
por: Coraglia, Ana, et al.
Publicado: (2016)

Renal Evaluation in Common Variable Immunodeficiency
por: Capistrano, Giovany Gomes, et al.
Publicado: (2018)

Common Variable Immunodeficiency and Gastric Malignancies
por: Leone, Patrizia, et al.
Publicado: (2018)

COVID-19 and Common Variable Immunodeficiency
por: Kaminski, Marina, et al.
Publicado: (2021)

Severe Ascites in Common Variable Immunodeficiency
por: Camões, Guilherme, et al.
Publicado: (2022)

Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2020)

Disseminated bronchiectasis in an adult with common variable immunodeficiency
por: Zea-Vera, Andrés Felipe, et al.
Publicado: (2015)

Common variable immunodeficiency misdiagnosed as Crohn Disease
por: Moore, Daniella, et al.
Publicado: (2015)

Common variable immunodeficiency (CVI): case report
por: Gomes, Luiz Carlos Bandoli
Publicado: (2015)

Common Variable Immunodeficiency and Peripheral Lung Nodule
por: Núñez, Miguel Ángel, et al.
Publicado: (2008)

Common Variable Immunodeficiency with Several Gastrointestinal Manifestations
por: Atalaia-Martins, Catarina, et al.
Publicado: (2017)

Immunosuppressive therapy with rituximab in common variable immunodeficiency
por: Pecoraro, Antonio, et al.
Publicado: (2019)

Posner-Schlossman Syndrome in Common Variable Immunodeficiency
por: Huq, Madiha, et al.
Publicado: (2020)

Functions of Tfh Cells in Common Variable Immunodeficiency
por: Le Saos-Patrinos, Corentin, et al.
Publicado: (2020)

Interstitial Lung Disease in Common Variable Immunodeficiency
por: Lopes, Joao Pedro, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4u136k6j4pj7gcrv4pni1s5v5r