Common variable immunodeficiency: more pathways than roads to Rome
XP Peng, A Caballero-Oteyza… - Annual Review of …, 2023 - annualreviews.org
Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …
introduced to accommodate the many and varied antibody deficiencies being identified in …
Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives
Inborn errors of immunity (IEI) are a diverse group of monogenic disorders of the immune
system due to germline variants in genes important for the immune response. Over the past …
system due to germline variants in genes important for the immune response. Over the past …
The diagnosis of severe combined immunodeficiency (SCID): the Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 definitions
Severe combined immunodeficiency (SCID) results from defects in the differentiation of
hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages …
hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages …
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies
F Consonni, E Gambineri, C Favre - Annals of Hematology, 2022 - Springer
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder
characterized by benign or malignant lymphoproliferation and autoimmunity. Classically …
characterized by benign or malignant lymphoproliferation and autoimmunity. Classically …
<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …
comprehensively organizes and defines the phenotypic features of human disease …
Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency
Background Next-generation sequencing has become a first-line tool for the diagnosis of
primary immunodeficiency. However, patient access remains limited because of restricted …
primary immunodeficiency. However, patient access remains limited because of restricted …
[HTML][HTML] Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
M Haimel, J Pazmandi, RJ Heredia, J Dmytrus… - Journal of Allergy and …, 2022 - Elsevier
Background Accurate, detailed, and standardized phenotypic descriptions are essential to
support diagnostic interpretation of genetic variants and to discover new diseases. The …
support diagnostic interpretation of genetic variants and to discover new diseases. The …
A 2020 update on the use of genetic testing for patients with primary immunodeficiency
IK Chinn, JS Orange - Expert Review of Clinical Immunology, 2020 - Taylor & Francis
Introduction Genetic testing of patients with clinically diagnosed or suspected primary
immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and …
immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and …
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that
include primary immunodeficiency's and other disorders affecting different aspects of the …
include primary immunodeficiency's and other disorders affecting different aspects of the …
Genetics of Inborn Errors of Immunity in highly consanguineous Middle Eastern and North African populations
H Al-Mousa, MR Barbouche - Seminars in Immunology, 2023 - Elsevier
Abstract Consanguineous marriages in Middle Eastern and North African (MENA) countries
are deeply-rooted tradition and highly prevalent resulting into increased prevalence of …
are deeply-rooted tradition and highly prevalent resulting into increased prevalence of …