Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The records of 240 patients with common variable immunodeficiency, seven with thymoma-associated hypogammaglobulinaemia and 44 patients with X-linked agammaglobulinaemia seen at this centre over the past 20 years, were reviewed. Although substantial advances have been made in treatment there continues to be a delay in diagnosis, as well as high mortality and morbidity rates. Hypogammaglobulinaemia is associated with a high incidence of chronic sinopulmonary infection, chronic diarrhoea, malignancy, joint disease and hepatitis. There is particular concern that infection with mycoplasmas and enteroviruses can be resistant to treatment. The high incidence of lymphoma and gastric carcinoma in patients with common variable immunodeficiency is high-lighted.
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PMID:Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. 846 90

We describe a patient with a long history of skin lesions clinically and histologically consistent with epidermodysplasia verruciformis (EV) who developed malignant thymoma. HPV-9DNA was found in the macular lesion and HPV-4DNA and HPV-9DNA in the coexistent common warts. Thrombocytopenia and hypogammaglobulinaemia preceded the diagnosis of thymoma. Our patient seems to represent an example of an EV-like syndrome in immunodeficiency.
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PMID:Epidermodysplasia verruciformis and malignant thymoma. 844 67

We report a bronchopulmonary infection with Mycobacterium malmoense in a patient with severe immunosuppression due to insulin-dependent diabetes mellitus, humoral immunodeficiency after thymoma (Good's syndrome) and prolonged immunosuppressive treatment after myasthenic crisis. It presented as non-resolving pneumonia of the left lower lobe. Bronchoscopically, a bronchoesophageal fistula was detected. Numerous acid-fast organisms were found in the sputum specimen and in the bronchial biopsy around the fistula. M. malmoense was isolated from sputum, bronchoalveolar lavage and bronchial biopsy. Whereas conventional in vitro susceptibility testing revealed susceptibility only to ethambutol, multi-drug susceptibility testing confirmed susceptibility to rifampicin, ethambutol, clarithromycin and prothionamide. The clinical outcome after 12 months of therapy resulted in a stable remission and considerable suppression of the mycobacterial load, but not in complete eradication.
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PMID:Bronchopulmonary infection with Mycobacterium malmoense presenting as a bronchoesophageal fistula. 875 16

Here we present the case of a patient affected with a unique association of Sweet's syndrome, idiopathic myelofibrosis, spindle-cell thymoma, myasthenia gravis and Good's syndrome (a rare form of thymoma-related, combined immunodeficiency presenting with recurrent respiratory infections). Conventional therapies (corticosteroids, colchicine, DDS, clofazimine) were ineffective or were contraindicated. Treatment with etretinate (50 mg/day) proved effective on skin lesions. Moreover, the patient's general condition unexpectedly improved, with long-lasting (11 months) suppression of respiratory infections and a slight but consistent improvement of hematological parameters such as Hct, MCV, Hb level, RBC, WBC and lymphocyte absolute counts.
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PMID:Sweet's syndrome in a patient with idiopathic myelofibrosis and thymoma-myasthenia gravis-immunodeficiency complex: efficacy of treatment with etretinate. 890 Aug 54

A 33-yr-old African-American male with known human immunodeficiency virus (HIV) positivity underwent CT guided fine-needle aspiration biopsy of an anterior mediastinal mass. The aspirate was composed of a dimorphic population of cells that included small mature lymphoid cells and scattered cohesive groups of large epithelial cells in equal numbers. The neoplasm stained strongly for low weight molecular cytokeratin, epithelial membrane antigen (EMA), leukocyte common antigen (LCA), and Leu-7 which was consistent with a diagnosis of thymoma. Subsequent biopsies determined the neoplasm to be a malignant (invasive) thymoma. This case emphasizes the efficacy of FNA biopsy for the evaluation of anterior mediastinal masses in HIV infected individuals. Additionally, the differential cytologic diagnoses for HIV infected individuals for this anatomic site are discussed.
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PMID:Malignant thymoma in a patient with HIV positivity: a case report with a review of the differential cytologic diagnoses. 909 51

Immunodeficiency with a thymoma (Good's syndrome) is a rare condition occurring in 7% to 13% of patients with adult-onset hypogammaglobulinemia. In 80% of cases, hypogammaglobulinemia is detected within 5 years of the identification of the thymoma. A 70-year-old man was found to have hypogammaglobulinemia 18 years after a thymoma had been resected. Cellular immunophenotyping revealed there were no detectable B cells, decreased CD4+ cells, and increased CD8+ cells. Both CD4+ and CD8+ subsets expressed increased populations of CD38+ DR+ cells and CD45RO+ cells. The CD8+ CD28+ population was markedly reduced. Inducible cytokine production by the patient's peripheral blood mononuclear cells revealed decreased IL-2, IL-10, and interferon-gamma production. These data suggest that patients with Good's syndrome have activated memory T cells that have dysregulated cytokine production.
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PMID:Hypogammaglobulinemia and anemia 18 years after thymoma resection. 943 96

Suppressor cell activity in two individuals (S1 and S2) with immunodeficiency with thymoma (ID-THY) was studied in peripheral blood mononuclear cells in pokeweed mitogen-stimulated single culture and cocultures. Secreted Ig was measured by radioincorporation and immunoprecipitation after 5-7 days. Control cocultures of normal/normal cells showed, in most cases, a percentage observed to expected ratio (% O/E) of cpm Ig near 100%. However, augmentation (% of O/E > 150) was often encountered, whereas suppression (% O/E < 50) was found only once in forty-two cocultures. In ID-THY/normal cell cocultures the degree of suppression by ID-THY cells varied widely when the same or different cocultivants were retested. This finding could be explained in part by an inverse correlation between the amount of secreted Ig produced by normal cells in single culture and the degree of suppression of the same normal by ID-THY cells in cocultures. A panel of normal cells were all suppressed when a range of S1 or S2/normal cell ratios were tested, weighing against genetic differences in suppressibility in the above system. ID-THY cells failed to block Ig secretion of human lymphoblastoid line cells, suggesting that the mechanism of suppression was related to a block in differentiation rather than interference with Ig synthesis per se. An experiment using cocultivants separated by a Millipore membrane showed that suppression was mediated by a humoral factor.
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PMID:Characteristics of suppressor cell activity appearing in cocultures of two individuals with immunodeficiency with thymoma. 953 24

Thymoma has been associated with both humoral immunodeficiency and cellular immunodeficiency, but the latter association has never been described in the pediatric age group. We report a 15-year-old female with thymoma, recalcitrant oropharyngeal candidiasis, recurrent generalized cutaneous herpes simplex virus type 2 infection, recurrent pneumonia and myasthenia gravis. Pathology of the thymic lesion showed a 10x5x6 cm extensively hyalinized mass with residual regions of spindle cell predominant and lymphocyte-rich thymoma. There was no evidence of humoral immunodeficiency but there was clinical and laboratory evidence of cellular immunodeficiency with cutaneous anergy and absence of T cell proliferation to Candida antigen. Six weeks after the thymoma was resected, she was no longer anergic and Candida proliferation was normal, although she continued to experience infections. This is the first reported pediatric patient with an association of cellular immunodeficiency with thymoma.
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PMID:Thymoma and cellular immune deficiency in an adolescent. 956 Aug 44

Cutaneous horn and squamous cell carcinoma (SCC) in situ (i.e., Bowen's disease) were documented concurrently in a cat. The cat had multiple, crusted lesions and a cutaneous horn on the right dorsal lumbar area. All the crusted cutaneous lesions were diagnosed as SCC in situ. Other findings included the presence of a thymoma and hepatoma. This cat was tested, and results were negative for feline leukemia and feline immunodeficiency viruses. At necropsy (eight months after the initial diagnosis was made) the hepatoma had ruptured, resulting in exsanguination and death.
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PMID:Cutaneous horn and squamous cell carcinoma in situ (Bowen's disease) in a cat. 982 83

Human thymoma is a neoplasm of thymic epithelial cells associated with several clinical syndromes ranging from autoimmune disease to immunodeficiency. The aim of our research was to investigate T cell-mediated immune response in patients with thymoma. Initially eight patients were enrolled in this study. Four patients underwent surgical removal of the thymus, while four were submitted to diagnostic procedures only. Inversion of the CD4:CD8 ratio was found in three patients. Only one subject displayed a normal CD19 count in peripheral blood. The mean value (+/-SD) of the CD19 percentage in the patient group was 2 +/- 2.2. Notably, the patients with thymoma had fewer mature B lymphocytes than the thymectomized patients. The T-cell receptor (TCR) repertoire was investigated in three individuals affected by thymoma: one underwent thymectomy, while the two others, one of which presented with lymphocytosis, were submitted to diagnostic biopsies only. The preliminary results showed a marked alteration in the CD8 repertoire of the thymectomized patient but not in that of the lymphocytotic patient. However, alterations in the TCR repertoire were also found in one patient with thymoma. Altogether, these preliminary findings reveal that loss of CD19+ lymphocytes in peripheral blood is a frequent phenomena in thymoma patients. In this article we discuss this aspect in the context of alterations of the TCR repertoire.
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PMID:Immunological findings in thymoma and thymoma-related syndromes. 1057 62


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