Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
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Five cases (3 men, 2 women) of late-onset variable immunodeficiency syndrome (CVID), characterized by similar clinical and immunological findings as well as histological demonstration of chronic granulomatous infection, are reported. All patients had frequent attacks of respiratory infections with recurrent bronchitis and pneumonia. In addition to predominating basally localized streaky-nodular lung changes all patients had hepatosplenomegaly and granulomatous infections of other organs. Immunologically, marked hypogammaglobulinaemia of all Ig classes, lymphopenia, and absence of terminal B-cell maturation were predominant. In-vitro tests under pokeweed-mitogen failed to demonstrate terminal plasma-cell differentiation of B-lymphocytes and thus Ig synthesis. Without pokeweed-mitogen there were largely nonsecretory B-blasts with abnormal granulated cytoplasmic Ig formation. Skin testing with Multitest application revealed almost complete anergy, both in the Arthus (24 h) and the late reactions (48 and 72 h). Nonetheless, T-cell reaction in-vitro was much less affected than B-cell function. "Natural killing" and antibody-dependent cytotoxicity were normal or slightly increased.
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PMID:[Acquired immunodeficiency syndrome with chronic granulomatous inflammation. Clinically definable special form of the variable immunodeficiency syndrome]. 348 49

Common variable immunodeficiency is a primary immunodeficiency disease, characterized by hypogammaglobulinemia, low serum immunoglobulin concentrations, and recurrent bacterial infections of the respiratory and gastrointestinal tracts. We report on a 33-year-old patient with suspected sarcoidosis, diagnosed on the basis of an open lung biopsy, who was admitted to the National Tuberculosis and Lung Diseases Research Institute because of severe pneumonia and streptococcal sepsis. During diagnostics based on typical, clinical and laboratory features, CVID was diagnosed. The antibiotic treatment was successfully administered and the patient was directed to supplementary treatment.
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PMID:[Common variable immunodeficiency in a patient with suspected sarcoidosis]. 2016 25

Common variable immunodeficiency disorder belongs to the most common primary human immunodeficiencies and it is characterized by primary defective immunoglobulin production. Hypogammaglobulinemia manifests in every age, usually in adult people. There is no gender predisposition. The prevalence is 1 : 25 000-1 : 50 000. The ethiopathogenesis of the majority of CVIDs is unknown. The main clinical respiratory symptoms include recurrent respiratory infects, especially bacterial etiology, sinusitis, bronchitis, pneumonia, leading to bronchiectasis and lung fibrosis. Interstitial lung fibrosis and granulomatosis often manifest at diagnosis of CVID and they are negative prognostic factors of the disease.
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PMID:[Interstitial lung diseases and granulomatoses associated common variable immunodeficiency]. 2581 54