BACKGROUND: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders. OBJECTIVE: This study analyzes the clinical presentation, association between clinical features, and differences and effects of immunoglobulin treatment in Europe. METHODS: Data on 2212 patients with CVID from 28 medical centers contributing to the European Society for Immunodeficiencies Database were analyzed retrospectively. RESULTS: Early disease onset (<10 years) was very frequent in our cohort (33.7%), especially in male subjects (39.8%). Male subjects with early-onset CVID were more prone to pneumonia and less prone to other complications suggesting a distinct disease entity. The diagnostic delay of CVID ranges between 4 and 5 years in many countries and is particularly high in subjects with early-onset CVID. Enteropathy, autoimmunity, granulomas, and splenomegaly formed a set of interrelated features, whereas bronchiectasis was not associated with any other clinical feature. Patient survival in this cohort was associated with age at onset and age at diagnosis only. There were different treatment strategies in Europe, with considerable differences in immunoglobulin dosing, ranging from 130 up to 750 mg/kg/mo. Patients with very low trough levels of less than 4 g/L had poor clinical outcomes, whereas higher trough levels were associated with a reduced frequency of serious bacterial infections. CONCLUSION: Patients with CVID are being managed differently throughout Europe, affecting various outcome measures. Clinically, CVID is a truly variable antibody deficiency syndrome.

• Klíčová slova
• Common variable immunodeficiency, autoimmunity, enteropathy, granulomas, immunoglobulin replacement, lymphadenopathy, patient self-reported outcomes, primary antibody deficiency, quality of life, treatment,
• MeSH
• analýza přežití MeSH
• autoimunita MeSH
• běžná variabilní imunodeficience komplikace   farmakoterapie   imunologie   mortalita   MeSH
• bronchiektazie patologie   MeSH
• dítě MeSH
• dospělí MeSH
• intravenózní imunoglobuliny terapeutické užití   MeSH
• lidé MeSH
• lymfoproliferativní nemoci komplikace   farmakoterapie   imunologie   mortalita   MeSH
• mladiství MeSH
• opožděná diagnóza MeSH
• pneumonie komplikace   farmakoterapie   imunologie   mortalita   MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• splenomegalie patologie   MeSH
• věk při počátku nemoci MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• intravenózní imunoglobuliny MeSH

Evidence has been growing that the pathogenesis of lymphoproliferative disease involves immune processes deregulation. It is believed that antigens or immunological elements can trigger transformation of normal lymphocyte polyclonal population into monoclonal neoplastic disorder--lymphoproliferative disease. Extensive studies point to the link between malignant lymphoma development and autoimmune or inflammatory diseases--namely rheumatoid arthritis, Sjörgen's syndrome, coeliac disease, systemic lupus erythematosus or thyroiditis. Increased risk of lymphoproliferative disease development was also proved for some infections. These infections involve both viral (e.g. Epstein-Barr virus, HIV or hepatitis C virus) and bacterial agents (e.g. Helicobacter pylori, Borrelia burgdorferi). Besides various lymphomas, the links to autoimmune/inflammatory diseases have also been described in chronic lymphocytic leukaemia. Regarding clinical medicine, it is necessary to distinguish patients with autoimmune, inflammatory and infectious diseases who are at the increased risk of tumour development. New approaches must be found to lower this risk. Also, the relationship between autoimmune/inflammatory disease therapy and lymphoma development should be clarified. Although lymphomas associated with autoimmune and inflammatory diseases represent only a small proportion of all lymphomas, any new findings regarding these diseases can cast light on lymphoma pathogenesis as a whole.

• MeSH
• autoantigeny imunologie   MeSH
• autoimunitní nemoci komplikace   imunologie   MeSH
• infekce komplikace   imunologie   MeSH
• lidé MeSH
• lymfocyty imunologie   MeSH
• lymfoproliferativní nemoci komplikace   imunologie   patologie   MeSH
• zánět imunologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• autoantigeny MeSH

The case of a 7-year-old boy with virus-associated hemophagocytic syndrome (VAHS) and serologically proven parvovirus B-19 infection is described. The patient with VAHS presented with fever, hepatosplenomegaly, pancytopenia, and hyperlipidemia type IV. After induction therapy with VP-16 and prednisone, partial remission was achieved. Despite maintenance therapy, reinductions, and the addition of cyclosporine A for 3 months, several relapses occurred. The therapy was stopped because of life-threatening complications (Klebsiella sepsis, neutropenic enterocolitis, and stercoral peritonitis). The complications were treated successfully. The patient status was stabilized after splenectomy. However, hepatomegaly progressed slowly and the hyperlipidemia endured. Ten months after the diagnosis leukocytosis with absolute T lymphocytosis appeared. Reactivation of VAHS was suspected and intravenous immunoglobin and then antilymphocyte immunoglobulin ALG therapy were started. The resultant decrease in leukocytosis was prompt, but lymphopenia did not occur. Virostatic treatment with foscarnet was introduced based on human herpesvirus-6 seroconversion. Twenty-six months after the diagnosis, the patient is well, without any sign of VAHS or lymphoproliferation.

• MeSH
• dítě MeSH
• histiocytóza z non-Langerhansových buněk komplikace   farmakoterapie   patologie   virologie   MeSH
• kostní dřeň patologie   MeSH
• lidé MeSH
• lidský herpesvirus 6 izolace a purifikace   MeSH
• lidský parvovirus B19 izolace a purifikace   MeSH
• lymfoproliferativní nemoci komplikace   farmakoterapie   patologie   virologie   MeSH
• rozvrh dávkování léků MeSH
• slezina patologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• MeSH
• akustické impedanční testy MeSH
• audiometrie MeSH
• dospělí MeSH
• Eustachova trubice patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfoproliferativní nemoci komplikace   patofyziologie   MeSH
• nádory hlavy a krku komplikace   patofyziologie   MeSH
• nedoslýchavost etiologie   MeSH
• převodní nedoslýchavost etiologie   MeSH
• senioři MeSH
• střední ucho patofyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH