Comparison of common monogenic defects in a large predominantly antibody deficiency cohort
Background Predominantly antibody deficiencies (PADs) are the most common primary
immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate …
immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate …
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency
Predominantly antibody deficiency (PAD) is the most prevalent form of primary
immunodeficiency, and is characterized by broad clinical, immunological and genetic …
immunodeficiency, and is characterized by broad clinical, immunological and genetic …
[HTML][HTML] Predominantly antibody deficiencies
Primary antibody deficiencies (PADs) are frequent primary immunodeficiencies in humans,
characterized by hypogammaglobulinemia, defects in production of specific antibodies, and …
characterized by hypogammaglobulinemia, defects in production of specific antibodies, and …
Immunological and clinical phenotyping in primary antibody deficiencies: a growing disease spectrum
JJ Shin, D Liauw, S Siddiqui, J Lee, EJ Chung… - Journal of clinical …, 2020 - Springer
Purpose Although common variable immunodeficiency (CVID) is considered the most
prevalent symptomatic primary antibody deficiency (PAD), there is a population with …
prevalent symptomatic primary antibody deficiency (PAD), there is a population with …
[HTML][HTML] Protocol for the unclassified primary antibody deficiency (unPAD) study: Characterization and classification of patients using the ESID online Registry
LMA Janssen, ICGM Reijnen, C Milito, D Edgar… - Plos one, 2022 - journals.plos.org
Background Primary antibody deficiencies (PADs) without an identified monogenetic origin
form the largest and most heterogeneous group of primary immunodeficiencies. These …
form the largest and most heterogeneous group of primary immunodeficiencies. These …
[HTML][HTML] Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass …
E Blanco, M Pérez-Andrés, S Arriba-Méndez… - Journal of Allergy and …, 2019 - Elsevier
Background Predominantly antibody deficiencies (PADs) are the most prevalent primary
immunodeficiencies, but their B-cell defects and underlying genetic alterations remain …
immunodeficiencies, but their B-cell defects and underlying genetic alterations remain …
There is no gene for CVID—novel monogenetic causes for primary antibody deficiency
NJ Ramirez, S Posadas-Cantera… - Current Opinion in …, 2021 - Elsevier
'There is no gene for fate'(citation from the movie 'GATTACA')—and there is no gene for
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …
The clinical and immunological features of patients with primary antibody deficiencies
Background: Primary antibody deficiency (PAD) comprises a range of diseases from early to
late terminal B cells defects and is associated with the various clinical complications …
late terminal B cells defects and is associated with the various clinical complications …
Advances and highlights in primary immunodeficiencies in 2017
J Chinen, MJ Cowan - Journal of Allergy and Clinical Immunology, 2018 - Elsevier
This manuscript reviews selected topics in primary immunodeficiency diseases (PIDDs)
published in 2017. These include (1) the role of follicular T cells in the differentiation of B …
published in 2017. These include (1) the role of follicular T cells in the differentiation of B …
New facets of antibody deficiencies
K Liadaki, J Sun, L Hammarström… - Current opinion in …, 2013 - Elsevier
Highlights•Nine novel genetic defects are described for antibody deficiencies.•Dysregulated
autophagy maybe a novel mechanism underlying antibody deficiencies.•Next generation …
autophagy maybe a novel mechanism underlying antibody deficiencies.•Next generation …