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

