Results 1 to 10 of about 13,602 (224)

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA [PDF]

open access: hybridJournal 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

Helicobacter trogontum Bacteremia and Lower Limb Skin Lesion in a Patient with X-Linked Agammaglobulinemia—A Case Report and Review of the Literature

open access: yesPathogens, 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

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients [PDF]

open access: bronzeJournal 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

Casereport - Agalactia of mare, agammaglobulinemia and arthritis in foal [PDF]

open access: diamondVeterinarski 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

The Clinical Course of COVID-19 Pneumonia in a 19-Year-Old Man on Intravenous Immunoglobulin Replacement Therapy for X-Linked Agammaglobulinemia

open access: hybridThe 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

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia [PDF]

open access: yesFrontiers in Immunology
IntroductionHere, we present the results of a nationwide newborn screening (NBS) program in Russia, covering over 2.3 million newborns and employing TREC and KREC quantification to improve the identification of severe forms of T and/or B cell ...
Andrey Marakhonov   +37 more
doaj   +2 more sources

Agammaglobulinemia: from X-linked to Autosomal Forms of Disease

open access: yesClinical 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

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

open access: yesThe Journal of Clinical Investigation, 2023
Suppressor of lin-12-like–HMG-CoA reductase degradation 1 (SEL1L-HRD1) ER-associated degradation (ERAD) plays a critical role in many physiological processes in mice, including immunity, water homeostasis, and energy metabolism; however, its relevance ...
Denisa Weis   +18 more
doaj   +2 more sources

Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

open access: yesJournal of Allergy and Clinical Immunology, 2020
BACKGROUND X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarse.
Vassilios Lougaris   +2 more
exaly   +2 more sources

Atypical course of COVID-19 in patient with Bruton agammaglobulinemia

open access: yesJournal of Infection in Developing Countries, 2020
We present atypical course of the novel coronavirus disease (COVID-19) in 34-year man with Bruton agammaglobulinemia. The patient was successfully treated by a combination of available drugs, including convalescent plasma and interleukin-6 (IL-6 ...
Ivana Milošević   +2 more
doaj   +2 more sources

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