Results 11 to 20 of about 18,093 (282)

COVID-19 and X-linked agammaglobulinemia (XLA) – insights from a monogenic antibody deficiency

open access: yesCurrent Opinion in Allergy and Clinical Immunology, 2021
Purpose of review The clinical outcomes from COVID-19 in monogenic causes of predominant antibody deficiency have pivotal implications for our understanding of the antiviral contribution of humoral immunity.
Mark J Ponsford   +2 more
exaly   +2 more sources

Clinical Case of Agammaglobulinemia Late Diagnosis in Preschool Child

open access: diamondПедиатрическая фармакология, 2022
Background. Agammaglobulinemia is a disease from the group of primary immune deficiencies with impaired antibodies production characterized by significant decrease or complete absence of B-cells.
Elena S. Kolevatova   +3 more
doaj   +3 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

Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia [PDF]

open access: yesFrontiers in Immunology
BackgroundPU.1 deficiency, also known as Autosomal Dominant Agammaglobulinemia-10 (AGM10), is a rare primary immunodeficiency caused by mutations in the SPI1 gene, leading to B cell deficiency and hypogammaglobulinemia.
Qi Peng   +16 more
doaj   +2 more sources

Cost Utility of Lifelong Immunoglobulin Replacement Therapy vs Hematopoietic Stem Cell Transplant to Treat Agammaglobulinemia

open access: greenJAMA pediatrics, 2021
Importance Lifelong immunoglobulin replacement therapy (IRT) is standard-of-care treatment for congenital agammaglobulinemia but accrues high annual costs ($30 000-$90 000 per year) and decrements to quality of life over patients' life spans ...
Di Sun   +5 more
openalex   +3 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

Estado nutricional de pacientes pediátricos con deficiencia predominantemente de anticuerpos [PDF]

open access: yesBiomédica: revista del Instituto Nacional de Salud
Introducción. La deficiencia predominantemente de anticuerpos es el grupo de errores inmunólogicos innatos más frecuente, sin embargo, hay poca información sobre el estado nutricional de los pacientes afectados. Objetivo.
Lina M. Castaño-Jaramillo   +2 more
doaj   +2 more sources

Primera parte. Hombre de 45 años con neumonía grave, infección diseminada por citomegalovirus y agammaglobulinemia [PDF]

open access: yesBiomédica: revista del Instituto Nacional de Salud
Se trata de un paciente de sexo masculino de 45 años con tos persistente de cuatro meses de duración, acompañada de fiebre y una significativa pérdida de peso.
Mónica Fernandes Pineda   +1 more
doaj   +2 more sources

The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study [PDF]

open access: yesBMC Immunology
Background Inborn errors of immunity (IEIs) can exhibit variant clinical manifestations beyond the classic presentation of recurrent infections. Allergic diseases represent an important subset that can arise as the primary feature or coexist with IEIs ...
Hossein Esmaeilzadeh   +4 more
doaj   +2 more sources

Oral management of a patient with down syndrome and agammaglobulinemia: a case report

open access: yesBMC Oral Health, 2020
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto   +4 more
doaj   +2 more sources

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