Common variable immunodeficiency: 20-yr experience at a single centre

• Published in: Pediatric allergy and immunology 2009-03, Vol.20 (2), p.113-118
• Main Authors: Llobet, Ma Pilar, Soler-Palacin, Pere, Detkova, Drahomira, Hernández, Manuel, Caragol, Isabel, Espanol, Teresa
• Format: Article
• Language: English
• Subjects: Adolescent; Antigens, CD19; Autoimmune Diseases - etiology; B-Lymphocyte Subsets - immunology; B-Lymphocyte Subsets - metabolism; B-Lymphocyte Subsets - pathology; Bacterial Infections - etiology; Biological and medical sciences; Bronchiectasis - etiology; Child; Child, Preschool; common variable immunodeficiency; Common Variable Immunodeficiency - blood; Common Variable Immunodeficiency - complications; Common Variable Immunodeficiency - diagnosis; Common Variable Immunodeficiency - genetics; Common Variable Immunodeficiency - physiopathology; Cross-Sectional Studies; Female; Follow-Up Studies; Fundamental and applied biological sciences. Psychology; Fundamental immunology; gammaglobulin therapy; General aspects; Genetic Predisposition to Disease; Humans; hypogammaglobulinaemia; Immunoglobulins - blood; Immunologic Memory; Immunophenotyping; Infant; Male; Medical sciences; memory B cells; Pedigree; Prognosis; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Tumor Necrosis Factor Receptor Superfamily, Member 7
• ISSN: 0905-6157; 1399-3038
• DOI: 10.1111/j.1399-3038.2008.00744.x

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It can present at any age in patients with a history of recurrent bacterial infections, with or without a family history of other primary immunodeficiencies (PID), and shows a wide range of clinical manifestations and immunological data. Diagnosis is based on low IgG, IgM and/or IgA levels. Delayed diagnosis and therapy can lead to bronchiectasis and malabsorption. The aim of this study was to describe a paediatric population diagnosed of CVID and its evolution in the population. Memory B‐cell (MB) classification carried out in these patients was correlated with clinical manifestations and outcome. Clinical and immunological data of 22 CVID children under 18 yr treated at our centre between 1985 and 2005 are presented. Immunological studies included those for diagnosis and MB quantification. Differences in form of presentation, familial incidence and MB classification were reviewed. A statistical descriptive analysis was made. Infections were the commonest manifestation, affecting mainly respiratory (19/22) and gastrointestinal (10/22) tracts. Bronchiectasis was present in seven cases, and detected prior to CVID diagnosis in five. Replacement therapy led to a significant reduction in the number of infections. Severe complications appeared mostly in patients without MB. Patients of the same family share the same MB group. Family members had also been diagnosed of CVID in seven cases. Early diagnosis and therapy are essential to improve outcome in these patients. MB studies are useful in children to orient prognosis and further genetic studies.