Pneumologie 2011; 65(10): 589-595
DOI: 10.1055/s-0030-1256676
Übersicht
© Georg Thieme Verlag KG Stuttgart · New York

„Common variable Immunodeficiency“ – Eine seltene pneumologische Differenzialdiagnose

“Common Variable Immunodeficiency”– First Diagnosis of a Rare Pneumological Disease
C. Priegnitz
1   Institut für Pneumologie an der Universität Witten Herdecke (Prof. Dr. med. Winfried J. Randerath) Krankenhaus Bethanien gGmbH, Solingen
,
K. Berg
2   MVZ RNR, Solingen
,
W. Galetke
3   Krankenhaus der Augustinerinnen, Köln
,
W. J. Randerath
1   Institut für Pneumologie an der Universität Witten Herdecke (Prof. Dr. med. Winfried J. Randerath) Krankenhaus Bethanien gGmbH, Solingen
› Author Affiliations
Further Information

Publication History

eingereicht 04 May 2011

akzeptiert nach Revision 28 June 2011

Publication Date:
24 August 2011 (online)

Zusammenfassung

Common variable Immunodeficiency (CVID) wird synonym mit dem Begriff „late onset hypogammaglobulinemia“ verwandt, was die entscheidende Pathologie bereits beschreibt. Kennzeichnend ist eine defekte B-Zelldifferenzierung, die zu einer gestörten Synthese von Immunglobulinen und damit zu einer eingeschränkten Immunantwort führt. Bei dem hier geschilderten Patienten wurde der Verdacht auf eine CVID nach der Anamnese gestellt. Nach Ausschluss pneumologischer Differenzialdiagnosen erfolgte die Bestätigung der Verdachtsdiagnose. Anhand dieses Falles soll die CVID als eine Ursache für rezidivierende pneumologische Infekte fokussiert betrachtet werden, da sie das häufigste Antikörpermangelsyndrom bei Kindern und Erwachsenen ist und mit einer Wahrscheinlichkeit von 1: 25 000 in der Bevölkerung auftritt.

Abstract

Common variable immunodeficiency (CVID) is generally used synonymously with “late onset hypogammaglobulinaemia”, which is already indicative of the central pathological finding. Patients with CVID produce specifically less immunoglobulins, thus reducing their immunological competence. Our patient showed the typical medical history of undetected CVID. After excluding differential pneumological diseases, the suspected diagnosis was confirmed. This case report examines the complex of CVID as a cause for recurrent pneumological infections. It is the most prevalent form of severe antibody deficiency in children and adults and occurs with a probability of 1:25,000 in the population.

 
  • Literatur

  • 1 Cunningham-Rundles C. How I treat common variable immune deficiency. Blood 2010; 116: 7-15
  • 2 Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol 2000; 20: 477-485
  • 3 Chapel H, Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol 2009; 145: 709-727
  • 4 Sneller MC, Strober W, Eisenstein E et al. NIH conference. New insights into common variable immunodeficiency. Ann intern med 1993; 118: 720-730
  • 5 Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999; 93: 190-197
  • 6 Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999; 92: 34-48
  • 7 Geha RS, Notarangelo LD, Casanova JL et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007; 120: 776-794
  • 8 Kopecky O, Lukesova S. Genetic defects in common variable immunodeficiency. Int J Immunogenet 2007; 34: 225-229
  • 9 Warnatz K, Denz A, Drager R et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002; 99: 1544-51
  • 10 Detkova D, de Gracia J, Lopes-da-Silva S et al. Common variable immunodeficiency: association between memory B cells and lung diseases. Chest 2007; 131: 1883-1889
  • 11 Piqueras B, Lavenu-Bombled C, Galicier L et al. Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J Clin Immunol 2003; 23: 385-400
  • 12 Siegenthaler W Hrsg. Differentialdiagnose: Innere Krankheiten – vom Symptom zur Diagnose. Stuttgart: Thieme; 2005
  • 13 Oksenhendler E, Gerard L, Fieschi C et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 2008; 46: 1547-1554
  • 14 Busse PJ, Farzan S, Cunningham-Rundles C. Pulmonary complications of common variable immunodeficiency. Ann Allergy Asthma Immunol 2007; 98: 1-8; quiz 8-11, 43
  • 15 Yalavarthy UC, Panda M. A middle-aged female with recurrent sinopulmonary infections: a case report. J Med Case Reports 2008; 2: 117
  • 16 Franz A, Webster AD, Furr PM et al. Mycoplasmal arthritis in patients with primary immunoglobulin deficiency: clinical features and outcome in 18 patients. Br J Rheumatol 1997; 36: 661-668
  • 17 Kainulainen L, Varpula M, Liippo K et al. Pulmonary abnormalities in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol 1999; 104: 1031-1036
  • 18 Quinti I, Soresina A, Spadaro G et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007; 27: 308-316
  • 19 Popa V, Colby TV, Reich SB. Pulmonary interstitial disease in Ig deficiency. Chest 2002; 122: 1594-1603
  • 20 Arish N, Eldor R, Fellig Y et al. Lymphocytic interstitial pneumonia associated with common variable immunodeficiency resolved with intravenous immunoglobulins. Thorax 2006; 61: 1096-1097
  • 21 Park JH, Levinson AI. Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Immunol 2010; 134: 97-103
  • 22 Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol 2009; 133: 198-207
  • 23 Sutor G, Fabel H. Sarcoidosis and common variable immunodeficiency. A case of a malignant course of sarcoidosis in conjunction with severe impairment of the cellular and humoral immune system. Respiration 2000; 67: 204-208
  • 24 Fasano MB, Sullivan KE, Sarpong SB et al. Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature. Medicine 1996; 75: 251-261
  • 25 Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol 2008; 28: S42-S45
  • 26 Agarwal S, Mayer L. Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes. J Allergy Clin Immunol 2009; 124: 658-664
  • 27 Ward C, Lucas M, Piris J et al. Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol 2008; 153: 331-337
  • 28 Bjoro K, Haaland T, Skaug K et al. The spectrum of hepatobiliary disease in primary hypogammaglobulinaemia. J Intern Med 1999; 245: 517-524
  • 29 Bjoro K, Froland SS, Yun Z et al. Hepatitis C infection in patients with primary hypogammaglobulinemia after treatment with contaminated immune globulin. N Engl J Med 1994; 331: 1607-1611
  • 30 Mellemkjaer L, Hammarstrom L, Andersen V et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 2002; 130: 495-500
  • 31 Reichenberger F, Wyser C, Gonon M et al. Pulmonary mucosa-associated lymphoid tissue lymphoma in a patient with common variable immunodeficiency syndrome. Respiration 2001; 68: 109-112
  • 32 Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol 2002; 109: 1001-1004
  • 33 Roifman CM, Levison H, Gelfand EW. High-dose versus low-dose intravenous immunoglobulin in hypogammaglobulinaemia and chronic lung disease. Lancet 1987; 329: 1075-1077
  • 34 Samuelson A, Borrelli S, Gustafson R et al. Characterization of Haemophilus influenzae isolates from the respiratory tract of patients with primary antibody deficiencies: evidence for persistent colonizations. Scand J Infect Dis 1995; 27: 303-313
  • 35 Cunningham Rundles C Hrsg. Immunologic disorders in infants and children. Philadelphia: Saunders; 2005
  • 36 Burton CM, Milman N, Andersen CB et al. Common variable immune deficiency and lung transplantation. Scand J Infect Dis 2007; 39: 362-367
  • 37 Washington K, Stenzel TT, Buckley RH et al. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol 1996; 20: 1240-1252
  • 38 Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005; 25: 57-62
  • 39 Gardulf A, Bjorvell H, Andersen V et al. Lifelong treatment with gammaglobulin for primary antibody deficiencies: the patients' experiences of subcutaneous self-infusions and home therapy. J Adv Nurs 1995; 21: 917-927