Der variable Immundefekt CVID – zwischen rheumatologischer Praxis und Immundefektzentrum

Zusammenfassung

Der variable Immundefekt (CVID [common variable immunodeficiency]) ist mit einer Prävalenz von 1 : 25 000 der häufigste klinisch relevante primäre Immundefekt im Erwachsenenalter. Der zugrundeliegende Antikörpermangel führt zu einer erhöhten Anfälligkeit für bakterielle Infekte, insbesondere der Atemwege und des Magendarmtraktes. Zusätzlich können weitere Zeichen einer Immundysregulation wie Autoimmunität, Lymphoproliferation und (granulomatöse) Entzündungen verschiedener Organe auftreten. In diesem Übersichtsartikel wird die Erkrankung mit Bezug auf den Praxisalltag in der Rheumatologie und auf die sinnvolle Kooperation mit spezialisierten Immundefektzentren vorgestellt.

Summary

Common variable immunodeficiency (CVID) with an estimated prevalence of 1 : 25,000 presents the most common form of primary immunodeficiency of the adult. This antibody deficiency syndrome is characterized by recurrent bacterial infections of the respiratory and gastrointestinal tract. In addition, several patients present with signs of immune dysregulation as autoimmunity, lymphoproliferation and (granulomatous) inflammation of different organs. This review introduces relevant aspects of CVID in the context of the daily practice of a rheumatologist and its integration into collaborative care with specialized immunodeficiency centers.

Schlüsselwörter

Variabler Immundefekt - CVID - wiederkehrende bakterielle Infekte - Immundefektzentrum

Keywords

Common variable immunodeficiency - CVID - recurrent bacterial infections - immunodeficiency centers

• Literatur

• 1 Al-Herz W, Bousfiha A, Casanova J-L. et al. Primary Immunodeficiency Diseases: an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency Frontiers in Immunology. 2011; 1-26.
• 2 Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clinical Immunology 1999; 93: 190-197.
• 3 Yong PF, Thaventhiran JE, Grimbacher B. „A Rose is a Rose is a Rose,“ but CVID is Not CVID Common Variable Immune Deficiency (CVID), What do we Know in 2011?. Advances in Immunology 2011; 111: 47-107.
• 4 Wehr C, Kivioja T, Schmitt C. et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008; 111: 77-85.
• 5 Oksenhendler E, Gerard L, Fieschi C. et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 2008; 46: 1547-1554.
• 6 Chapel H, Lucas M, Patel S. et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J Allergy Clin Immunol 2012; 130: 1197-1198 e9.
• 7 Mouillot G, Carmagnat M, Gerard L. et al. B-Cell and T-Cell Phenotypes in CVID Patients Correlate with the Clinical Phenotype of the Disease. Journal of Clinical Immunology 2010; 30: 746-755.
• 8 Bates CA, Ellison MC, Lynch DA. et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004; 114: 415-421.
• 9 Quinti I, Agostini C, Tabolli S. et al. Malignancies are the major cause of death in patients with adult onset common variable immunodeficiency. Blood 2012; 120: 1953-1954.
• 10 Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012; 119: 1650-1657.
• 11 Farmand S, Baumann U, von Bernuth H. et al. [Interdisciplinary AWMF guideline for the diagnostics of primary immunodeficiency]. Klinische Padiatrie 2011; 223: 378-385.
• 12 Ogawa M, Hori H, Niiguchi S. et al. False-positive plasma (1[uni2192]3)-beta-D-glucan test following immunoglobulin product replacement in an adult bone marrow recipient. International journal of hematology 2004; 80: 97-98.
• 13 Orange JS, Grossman WJ, Navickis RJ, Wilkes MM. Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies. Clinical immunology (Orlando, Fla) 2010; 137: 21-30.
• 14 Quinti I, Soresina A, Guerra A. et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. Journal of Clinical Immunology 2011; 31: 315-322.
• 15 Gobert D, Bussel JB, Cunningham-Rundles C. et al. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Br J Haematol 2011; 155: 498-508.
• 16 Wong GK, Goldacker S, Winterhalter C. et al. Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients. Clinical and experimental immunology 2013; 172: 63-72.
• 17 Chase NM, Verbsky JW, Hintermeyer MK. et al. Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID). J Clin Immunol 2013; 33: 30-39.
• 18 Rizzi M, Neumann C, Fielding AK. et al. Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency. J Allergy Clin Immunol 2011; 128: 1371-1374.