JAMA 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
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Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia [PDF]
Frontiers in ImmunologyBackgroundPU.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
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Purulent meningitis in X-linked agammaglobulinemia: one case report [PDF]
Frontiers in ImmunologyX-linked agammaglobulinemia (XLA) is characterized by a triad of primary immunodeficiency, profound hypogammaglobulinemia due to absent antibody production, and a consequent predisposition to severe and recurrent bacterial infections.
Anyi Ba +5 more
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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 A. El-Sayed +50 more
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Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France
Emerging Infectious Diseases, 2018 We report a disseminated infection caused by Spiroplasma apis, a honeybee pathogen, in a patient in France who had X-linked agammaglobulinemia. Identification was challenging because initial bacterial cultures and direct examination by Gram staining were
Nicolas Etienne +11 more
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Primera parte. Hombre de 45 años con neumonía grave, infección diseminada por citomegalovirus y agammaglobulinemia [PDF]
Biomédica: revista del Instituto Nacional de SaludSe 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
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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 ...
Burcu Bestas +20 more
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The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study [PDF]
BMC ImmunologyBackground 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
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Autosomal Recessive Agammaglobulinemia in Juvenile Idiopathic Arthritis: A Case Report [PDF]
Reviews in Clinical Medicine, 2020 The B lymphocyte developmental blocks agammaglobulinemia, leading to peripheral B cell depletion and plasma immunoglobulin reduction. Agammaglobulinemia is a rare yet severe disease since it is presented with recurrent sinopulmonary and skin, central ...
Azadeh Zare Feizabadi +2 more
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Clinical Case of Agammaglobulinemia Late Diagnosis in Preschool Child
Педиатрическая 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
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