title: Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Immunology and Allergy, Centre Hospitalier Universitaire de Québec, Laval University, Quebec City, Quebec, Canada. jean-nicolas.boursiquot@fmed.ulaval.ca
authors.forename: Jean-Nicolas
authors.initials: JN
authors.lastname: Boursiquot
authors.forename: Laurence
authors.initials: L
authors.lastname: Gérard
authors.forename: Marion
authors.initials: M
authors.lastname: Malphettes
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Lionel
authors.initials: L
authors.lastname: Galicier
authors.forename: David
authors.initials: D
authors.lastname: Boutboul
authors.forename: Raphael
authors.initials: R
authors.lastname: Borie
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Viallard
authors.forename: Pauline
authors.initials: P
authors.lastname: Soulas-Sprauel
authors.forename: Alice
authors.initials: A
authors.lastname: Berezne
authors.forename: Arnaud
authors.initials: A
authors.lastname: Jaccard
authors.forename: Eric
authors.initials: E
authors.lastname: Hachulla
authors.forename: Julien
authors.initials: J
authors.lastname: Haroche
authors.forename: Nicolas
authors.initials: N
authors.lastname: Schleinitz
authors.forename: Laurent
authors.initials: L
authors.lastname: Têtu
authors.forename: Eric
authors.initials: E
authors.lastname: Oksenhendler
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D017074:Common Variable Immunodeficiency / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009928:Organ Specificity / Q000276:immunology; D011446:Prospective Studies; D012189:Retrospective Studies; D016896:Treatment Outcome