Associated Papers
Common Variable Immunodeficiency Disorders: A perspective from New Zealand.
Ameratunga R et al.
Clinical Reviews in Allergy & Immunology, 2025
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses.
Block V et al.
Journal of Clinical Immunology, 2023
Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.
Di Lorenzo B et al.
Frontiers in Immunology, 2022
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Bisgin A et al.
Scientific Reports, 2021
TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis.
Ntellas P et al.
Multiple Sclerosis and Related Disorders, 2020
Primary Antibody Deficiencies.
Min Q et al.
Advances in Experimental Medicine and Biology, 2020
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Miano M et al.
British Journal of Haematology, 2019
Host genetic variants in sepsis risk: a field synopsis and meta-analysis.
Lu H et al.
Critical Care (london, England), 2019
Common variable immune deficiency: Dissection of the variable.
Cunningham-Rundles C
Immunological Reviews, 2019
Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease.
Rivalta B et al.
Frontiers in Pediatrics, 2019
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR et al.
European Journal of Human Genetics : Ejhg, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
BAFF and BAFF-Receptor in B Cell Selection and Survival.
Smulski CR et al.
Frontiers in Immunology, 2018
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
Guffroy A et al.
Journal of Clinical Immunology, 2017
Recurrent respiratory tract infections (RRTI) in the elderly: A late onset mild immunodeficiency?
van de Vosse E et al.
Clinical Immunology (orlando, Fla.), 2017
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome.
Lougaris V et al.
Clinical Immunology (orlando, Fla.), 2016
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Bogaert DJ et al.
Journal of Medical Genetics, 2016
Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies.
Lougaris V et al.
Journal of Clinical Immunology, 2016
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
Association of B-cell activating factor receptor deficiency with the P21R polymorphism and common variable immunodeficiency.
Germinaro M et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2015
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Buchbinder D et al.
Journal of Clinical Immunology, 2015
BAFF-R mutations in Good's syndrome.
Lougaris V et al.
Clinical Immunology (orlando, Fla.), 2014
A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.
Pieper K et al.
The Journal of Allergy and Clinical Immunology, 2014
Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.
Kutukculer N et al.
Journal of Clinical Immunology, 2012
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY et al.
Human Mutation, 2010
Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency.
Kashef S et al.
Journal of Investigational Allergology & Clinical Immunology, 2009
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency.
Losi CG et al.
Journal of Clinical Immunology, 2005
[On the immunology of the antibody deficiency syndrome].
SCHEIFFARTH F et al.
Die Medizinische Welt, 1960