Granulomatous Disease in CVID: Retrospective Analysis of Clinical Characteristics and Treatment Efficacy in a Cohort of 59 Patients

• Published in: Journal of clinical immunology Vol. 33; no. 1; pp. 84 - 95
• Main Authors: Boursiquot, Jean-Nicolas, Gérard, Laurence, Malphettes, Marion, Fieschi, Claire, Galicier, Lionel, Boutboul, David, Borie, Raphael, Viallard, Jean-François, Soulas-Sprauel, Pauline, Berezne, Alice, Jaccard, Arnaud, Hachulla, Eric, Haroche, Julien, Schleinitz, Nicolas, Têtu, Laurent, Oksenhendler, Eric
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.01.2013; Springer Nature B.V; Springer Verlag
• Subjects: Adult; Agammaglobulinemia; Agammaglobulinemia - complications; Agammaglobulinemia - diagnosis; Agammaglobulinemia - drug therapy; Biomedical and Life Sciences; Biomedicine; Child; Child, Preschool; Cohort Studies; Common Variable Immunodeficiency; Common Variable Immunodeficiency - complications; Common Variable Immunodeficiency - diagnosis; Common Variable Immunodeficiency - drug therapy; Female; Granulomatous Disease, Chronic; Granulomatous Disease, Chronic - complications; Granulomatous Disease, Chronic - diagnosis; Granulomatous Disease, Chronic - drug therapy; Humans; Immunology; Immunophenotyping; Infant; Infant, Newborn; Infectious Diseases; Internal Medicine; Life Sciences; Male; Medical Microbiology; Organ Specificity; Organ Specificity - immunology; Original Research; Prospective Studies; Retrospective Studies; Treatment Outcome; antibody deficiency; CVID; treatment; granulomatous disease; primary immune deficiency
• ISSN: 0271-9142; 1573-2592
• DOI: 10.1007/s10875-012-9778-9

Background Granulomatous disease (GD) will develop in a subset of patients with common variable immunodeficiency (CVID). Little is known about the efficacy of therapeutic agents used for treating this disorder. Objective To evaluate the efficacy of immunosuppressive drugs with the help of a set of clinical, biological and radiological criteria. Method Clinical and laboratory features of CVID patients were collected from the French DEFI cohort, a prospective study on adults with hypogammaglobulinemia. The medical charts of 55 patients (93 %) of the GD cohort were reviewed. Results Among 436 subjects with CVID, 59 patients (13.5 %) were diagnosed with GD. Of the 55 patients in whom medical charts were available, 32 patients received treatment for the granulomatous disease. Corticosteroids were the most frequently used drug. Complete response to treatment was infrequent. It was achieved with corticosteroids, cyclophosphamide, hydroxychloroquine, rituximab and methotrexate. Azathioprine, cyclosporine, mycophenolate mofetil, sirolimus, infliximab and thalidomide led to partial or absence of response. Complete and partial responses were observed in lymph nodes, lungs, liver, skin, bone marrow and central nervous system. Absent of response for gastrointestinal tract granulomas was noted in all cases of treatment attempt. Conclusion CVID patients with GD exhibit a particular biological phenotype. Treatment should be considered in any symptomatic patient or if there is evidence of organ dysfunction. Corticosteroids are the drug of choice in most instances but response to treatment is often unsatisfactory.