A clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency

• Main Authors: E. V. Negodnova (Author), M. S. Iskandyarova (Author), E. N. Tyagusheva (Author), O. A. Radaeva (Author), G. V. Fominova (Author)
• Format: Book
• Published: Association of Paediatric Allergists and Immunologists of Russia (APAIR), 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2500-1175; 2712-7958; 10.53529/2500-1175-2023-4-51-55
• Keywords: primary immunodeficiency; agammaglobulinemia; autosomal recessive form; children; clinical case; Pediatrics; RJ1-570
• Source: Аллергология и Иммунология в Педиатрии, Vol 0, Iss 4, Pp 51-55 (2024)

Background. Primary agammaglobulinemia is the result of specific changes in B-cells that lead to low antibody production. A preliminary diagnosis is established if there is a history of frequent bacterial infections (otitis media, sinusitis, skin abscesses), including severe course, in some cases caused by opportunistic flora and atypical mycobacteria; low levels of immunoglobulins. The main symptoms of primary immunodeficiency in a child from this clinical example were frequent recidivating bronchial obstruction with the development of pneumonia.Presentation of the clinical case.The publication presents a clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency in a child of 2 years, 7 months. During the follow-up period from 4 months to 2 months, 7 months, the child had 3 episodes of pneumonia, 3 episodes of purulent otitis media. The child repeatedly underwent inpatient treatment, where he received broad-spectrum antibiotics as treatment. Based on the examination (IgA (0.02 g/l), IgG (0.3 g/l), IgM (0.07 g/l) and the absence of CD19+ cells), the diagnosis of "Primary immunodeficiency, agammaglobulinemia" was made, which was subsequently confirmed by the RDC of Moscow. From the moment of diagnosis, the child receives intravenous immunoglobulins at a dose of 7.5 g. and antibacterial therapy.Conclusion. Early recognition and diagnosis of these conditions is crucial to improve outcomes and prevent complications.