Improving access to therapy for patients with inborn errors of immunity: a call to action
MJ Dorsey, A Condino-Neto - The Journal of Allergy and Clinical …, 2023 - Elsevier
Breakthroughs in sequencing technology, targeted immunotherapy, and immune
reconstituting treatment have increased the pool of patients with inborn errors of immunity …
reconstituting treatment have increased the pool of patients with inborn errors of immunity …
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
N Taghizade, R Babayeva, A Kara, IS Karakus… - Journal of Allergy and …, 2023 - Elsevier
Background LPS-responsive beige-like anchor (LRBA) deficiency (LRBA–/–) and cytotoxic T-
lymphocyte–associated antigen-4 (CTLA4) insufficiency (CTLA4+/–) are mechanistically …
lymphocyte–associated antigen-4 (CTLA4) insufficiency (CTLA4+/–) are mechanistically …
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 …
[HTML][HTML] Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
Abstract Paired box 1 (PAX1) deficiency has been reported in a small number of patients
diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients …
diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients …
The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
Purpose Primary B cell defects manifesting as predominantly antibody deficiencies result
from variable inborn errors of the B cell lineage and their development, including …
from variable inborn errors of the B cell lineage and their development, including …
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
Combined immunodeficiency diseases (CID) represent the most severe forms of inborn
errors of immunity. Defective T cell development and/or function, leading to an impairment in …
errors of immunity. Defective T cell development and/or function, leading to an impairment in …
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
XP Peng, MS Al-Ddafari, A Caballero-Oteyza… - Clinical …, 2023 - Elsevier
The advent of next-generation sequencing (NGS) technologies has greatly expanded our
understanding of both the clinical spectra and genetic landscape of inborn errors of …
understanding of both the clinical spectra and genetic landscape of inborn errors of …
Psychosocial Evaluation of Adults with Primary Immunodeficiency
R Gumusburun, S Altay, H Cengiz… - Journal of Clinical …, 2024 - Springer
Purpose Primary immunodeficiency disorder (PID) is a heterogeneous group of diseases
characterized by immune dysregulation and increased susceptibility to infections, with …
characterized by immune dysregulation and increased susceptibility to infections, with …
[HTML][HTML] Clinical and immunological outcomes of SARS-CoV-2 infection in patients with inborn errors of immunity receiving different brands and doses of COVID-19 …
E Karabiber, Ö Atik, FM Tepetam, B Ergan… - Tuberculosis and …, 2023 - ncbi.nlm.nih.gov
Clinical and immunological outcomes of SARS-CoV-2 infection in patients with inborn errors
of immunity receiving different brands and doses of COVID-19 vaccines - PMC Back to Top …
of immunity receiving different brands and doses of COVID-19 vaccines - PMC Back to Top …
Clinical heterogeneity in families with multiple cases of inborn errors of immunity
Background Inborn errors of immunity (IEI) are a diverse range of genetic immune system
illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and …
illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and …