Late diagnosis of agammaglobulinemia in an 8-year-old boy [PDF]
Pediatria i Medycyna Rodzinna, 2016 Chromosome X-linked Bruton agammaglobulinemia is classified as a primary immunodeficiency disorder. It is a genetic condition associated with a mutation in the BTK gene encoding tyrosine kinase.
Małgorzata Sopińska +4 more
doaj +2 more sources
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
doaj +2 more sources
X-linked agammaglobulinemia and isolated growth hormone deficiency
The Turkish Journal of Pediatrics, 1998 X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan +3 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
doaj +2 more sources
Optimizing TREC‐ and KREC‐based newborn screening: Risk‐stratified algorithms significantly reduce referrals [PDF]
Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.Abstract Background Newborn screening (NBS) quantifying T‐cell receptor excision circles with or without kappa‐deleting recombination excision circles (TREC, KREC) enables early detection of severe T‐ and/or B‐cell lymphopenia. However, both markers have limited specificity, often resulting in unnecessary referrals.
Maarja Soomann +4 more
wiley +2 more sources
Atypical course of COVID-19 in patient with Bruton agammaglobulinemia [PDF]
Journal 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
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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
doaj +2 more sources
Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report [PDF]
Frontiers in MedicineBackgroundAgammaglobulinemia type 1 (AGM1) is a rare autosomal recessive inborn error of immunity caused by biallelic defects in the immunoglobulin heavy constant mu gene (IGHM), resulting in arrested B-cell development, profound antibody deficiency, and
Cristhel Puente +1 more
doaj +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]
Frontiers in ImmunologyIntroductionHere, 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
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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