Inborn errors of immunity in adulthood

JJF Wang, A Dhir, KJ Hildebrand, SE Turvey… - Allergy, Asthma & …, 2024 - Springer
Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune
system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is …

38.3 Primary Immunodeficiencies: When is it not just “JIA”

NC Gowda, A Aggarwal - Best Practice & Research Clinical Rheumatology, 2024 - Elsevier
Abstract Juvenile Idiopathic Arthritis (JIA) is sometimes considered a diagnosis of exclusion
as the name signifies that no cause is evident for this form of arthritis. Despite this JIA has …

Disparities in diagnosis, access to specialist care, and treatment for inborn errors of immunity

MG Lawrence, NL Rider… - The Journal of Allergy …, 2024 - Elsevier
Inborn errors of immunity represent a rapidly expanding group of genetic disorders of the
immune system. Significant advances have been made in recent years in diagnosis …

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

A Aykut, A Durmaz, N Karaca, N Gulez, F Genel… - Immunologic …, 2024 - Springer
Abstract Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically
heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types …

Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus

M Comella, E Palmisani, M Mariani… - Frontiers in …, 2024 - frontiersin.org
Introduction Autoimmune cytopenias (AICs) are a group of disorders characterized by
immune-mediated destruction of blood cells. In children, they are often secondary to immune …

Severe combined immunodeficiency diagnosis and genetic defects

CS Aranda, MP Gouveia‐Pereira… - Immunological …, 2024 - Wiley Online Library
Severe combined immunodeficiency (SCID) is a rare and life‐threatening genetic disorder
that severely impairs the immune system's ability to defend the body against infections. Often …

Improving clinical practice through patient registries in allergy and immunology

A Moore, KG Blumenthal, C Chambers… - The Journal of Allergy …, 2024 - Elsevier
Patient registries are a mechanism for collecting data on allergic and immunologic diseases
that provide important information on epidemiology and outcomes that can ultimately …

Life quality, depression, and anxiety levels in parents of children with primary immunodeficiency

S Kaplan Sarıkavak, T Sarıkavak… - Pediatric Allergy and …, 2024 - Wiley Online Library
Background Primary immune deficiencies (PID) encompasses genetic disorders that result
in recurrent infections and immune dysregulation, often increasing the risk of malignancies …

Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center

R Alzyoud, M Alsuweiti, H Maaitah, B Aladaileh… - Journal of Clinical …, 2024 - Springer
Purpose Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable
clinical phenotypes. This study was conducted to describe the epidemiology, clinical …

A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy …

A Nagy, K Duff, A Bauer, F Okonneh… - Journal of Clinical …, 2024 - Springer
Purpose Hyaluronidase-facilitated subcutaneous immunoglobulin (fSCIG) 20% will allow
reduced infusion volumes and frequency versus existing subcutaneous therapies such as …