Results 1 to 10 of about 18,093 (282)
X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world
World Allergy Organization Journal, 2019 Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications.
Zeinab Awad El-Sayed +2 more
exaly +4 more sources
A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA [PDF]
Journal of Clinical Immunology, 2023 Purpose To understand the natural history and clinical outcomes for patients with X-linked agammaglobulinemia (XLA) in the United States utilizing the United States Immunodeficiency Network (USIDNET) patient registry.
Vivian Hernandez‐Trujillo +10 more
openalex +2 more sources
Two X‐linked agammaglobulinemia patients develop pneumonia as COVID‐19 manifestation but recover
Pediatric Allergy and Immunology, 2020 The recent SARS‐CoV‐2 pandemic, which has recently affected Italy since February 21, constitutes a threat to normal subjects, as the coronavirus disease‐19 (COVID‐19) can manifest with a broad spectrum of clinical phenotypes ranging from asymptomatic ...
Ciro Paolillo +2 more
exaly +2 more sources
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients [PDF]
Journal of Experimental Medicine, 2021 PU.1 haploinsufficiency reduces the access of key transcription factors to open chromatin regions, undermines essential stage-specific transcriptional programs, and arrests human B cell development at the pro– to pre–B cell transition.
Carole Le Coz +44 more
openalex +2 more sources
Pathogens, 2022 We describe the first case of infection with Helicobacter trogontum in a patient with X-linked agammaglobulinemia. A 22-year-old male with X-linked agammaglobulinemia presented with fever, malaise and a painful skin lesion on the lower left extremity ...
Lasse Fjordside +4 more
doaj +2 more sources
Agammaglobulinemia: from X-linked to Autosomal Forms of Disease
Clinical Reviews in Allergy and Immunology, 2021 Interruptions or alterations in the B cell development pathway can lead to primary B cell immunodeficiency with resultant absence or diminished immunoglobulin production.
Melissa Cardenas-Morales
exaly +2 more sources
Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model [PDF]
, 2014 X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton’s tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development ...
Behlke, Mark A +20 more
core +3 more sources
The American journal of case reports, 2021 Patient: Male, 19-year-old Final Diagnosis: COVID-19 Symptoms: Cough • diarrhea • fever • shortness of breath Medication: — Clinical Procedure: — Specialty: Immunology • Infectious Diseases • Pulmonology Objective: Rare co-existance of disease or ...
Ali Almontasheri +4 more
openalex +2 more sources
Journal of Clinical Immunology, 2022 X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene leading to B lymphocyte deficiency and susceptibility to infection.
Dana O'Toole +2 more
exaly +2 more sources
Casereport - Agalactia of mare, agammaglobulinemia and arthritis in foal [PDF]
Veterinarski Glasnik, 2014 Lactation is physiological state of the organism and the final process of the female reproductive cycle. Milk in the first days after birth (colostrum), in addition to the necessary nutrients contains antibodies, with whose ingesting only a ...
Spasojević Jovan +6 more
doaj +3 more sources