Běžná variabilní imunodeficience a granulomatózní/lymfocytární intersticiální plicní nemoc

DOUBKOVÁ, Martina, Michael DOUBEK, Svatopluk RICHTER and Zita CHOVANCOVÁ. Běžná variabilní imunodeficience a granulomatózní/lymfocytární intersticiální plicní nemoc (Common variable immunodeficiency and granulomatous-lymphocytic interstitial lung diseases Introduction). Studia Pneumologica et Phthiseologica. Praha: Trios spol. s.r.o., 2023, vol. 83, No 5, p. 159-169. ISSN 1213-810X.

Basic information

• Original name: Běžná variabilní imunodeficience a granulomatózní/lymfocytární intersticiální plicní nemoc
• Name (in English): Common variable immunodeficiency and granulomatous-lymphocytic interstitial lung diseases Introduction
• Authors: DOUBKOVÁ, Martina (203 Czech Republic, guarantor, belonging to the institution), Michael DOUBEK (203 Czech Republic, belonging to the institution), Svatopluk RICHTER (203 Czech Republic, belonging to the institution) and Zita CHOVANCOVÁ (203 Czech Republic, belonging to the institution).
• Edition: Studia Pneumologica et Phthiseologica, Praha, Trios spol. s.r.o. 2023, 1213-810X.

Other information

• Original language: Czech
• Type of outcome: Article in a journal
• Field of Study: 30203 Respiratory systems
• Country of publisher: Czech Republic
• Confidentiality degree: is not subject to a state or trade secret
• WWW: URL
• RIV identification code: RIV/00216224:14110/23:00133239
• Organization unit: Faculty of Medicine
• Keywords in English: common variable immunodeficiency; granulomatosis; interstitial lung fibrosis; prognosis; treatment
• Tags: rivok
• Tags: Reviewed

Abstract

Běžná variabilní imunodeficience (CVID) je heterogenní onemocnění, které představuje nejčastější skupinu symptomatických vrozených poruch tvorby protilátek. Je charakterizována hypogamaglobulinémií IgG, IgA a/nebo IgM doprovázenou poruchou protilátkové odpovědi po antigenní stimulaci. Kromě infekčních komplikací je toto onemocnění často komplikováno klinickými projevy imunitní dysregulace. Mezi tyto komplikace patří také granulomatózně-lymfocytární intersticiální plicní choroba (GLILD), multisystémové granulomatózní a/nebo zánětlivé onemocnění významně zvyšující mortalitu a morbiditu těchto pacientů.

Abstract (in English)

Introduction: Common variable immunodeficiency (CVID) is a heterogeneous disorder representing the most common group of symptomatic congenital disorders of antibody production. It is characterized by IgG, IgA and/or IgM hypogammaglobulinemia accompanied by an impaired antibody response after antigenic stimulation. In ad-dition to infectious complications, this disease is often complicated by clinical manifestations of immune dysre-gulation. These complications also include granulomatous-lymphocytic interstitial lung disease (GLILD), a multi-systemic granulomatous and/or inflammatory disease significantly increasing the mortality and morbidity of these patients. Materials and methods: A total of eight patients with CVID/GLILD were followed at our pulmonary department in the years 2002−2023 (5 females, age range 20–33 years, median age at diagnosis 23 years; 3 males, age range 23–49 years; median age at diagnosis 23 years). All patients were non-smokers. In most patients, the diagnosis of CVID preceded the diagnosis of CVID/GLILD. Histological evidence of GLILD was confirmed in 6/8 patients (75 %). Pulmonary involvement was assessed based on lung function parameters and imaging methods (posterior chest radiograph and chest high-resolution computed tomography [HRCT]). Results: CVID/GLILD is presented in eight cases with different characteristics of pulmonary and extrapulmo-nary involvement. The extent of pulmonary parenchymal involvement on chest HRCT, assessed at the initial exa-mination by an automated analysis method, was in the range of 6–33 % (with a mean of 18%) in our patients. All patients were treated with immunosuppressive agents, two of them with corticosteroids in monotherapy and the others with combined immunosuppressants. The median follow-up from CVID/GLILD diagnosis was 9.5 years. The median survival was not reached as only one patient died. Conclusion: Interdisciplinary cooperation between pulmonologists, hematologists, radiologists and immunolo-gists is the basis of our care for patients with CVID/GLILD. Immunosuppressant therapy is long-term, with a risk of disease relapse, but without a major risk of infectious complications. Since corticosteroid monotherapy is insuf-ficient in most cases, combined therapy with rituximab and another immunosuppressant (rituximab with corti-costeroids, rituximab mycophenolate) appears to be more effective.