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)

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders that genetically affect distinct components of the immune system; thus, predispose individuals to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (ADs), which developed during the course of PID in children, were discussed.Twenty-five patients were included in this study. Symptoms related to ADs, such as autoimmune thyroiditis, type 1 diabetes mellitus, coeliac disease, juvenile idiopathic arthritis, dermatomyositis, autoimmune haemolytic anaemia, leukocytoclastic vasculitis, Henoch-Schonlein purpura, hypoparathyroidism, alopecia areata, Addison's disease, vitiligo and systemic lupus erythematosus were detected in these patients, who have been followed with diagnosis of PID including common variable immunodeficiency, selective and partial IgA deficiency, Wiskott-Aldrich syndrome, ataxia telangiectasia, hyperimmunoglobulin E syndrome, chronic mucocutaneous candidiasis, Griscelli syndrome, and partial C4 deficiency.Immunodeficiency and autoimmune phenomenon may concomitantly present in an individual, although they seem to be incompatible ends in the spectrum of the clinical immune response. Patients with primary immune deficiency should be closely monitored for development of autoimmune diseases.
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PMID:Autoimmune diseases detected in children with primary immunodeficiency diseases: results from a reference centre at middle anatolia. 2298 38

Patients with myasthenia gravis (MG) may have various non-motor symptoms in addition to fatigability and weakness of skeletal muscles. Thymomas contain abundant immature thymocytes and developing CD4 and CD8 T cells. Thymomas are found in 15-25% of patients with MG and are associated with severe symptoms. We suggest that non-motor symptoms are based on the autoimmune disorders probably owing to an abnormal T cell repertoire from thymomas. Using previously reported cases and cases from our multicentre cooperative study, we review the clinical characteristics of patients with thymoma-associated MG who have non-motor symptoms. CD8 T cell cytotoxicity against haematopoietic precursor cells in bone marrow and unidentified autoantigens in hair follicles lead to the development of pure red cell aplasia, immunodeficiency and alopecia areata. In contrast, neuromyotonia, limbic encephalitis, myocarditis and taste disorders are autoantibody-mediated disorders, as is MG. Autoantibodies to several types of voltage-gated potassium channels and the related molecules can evoke various neurological and cardiac disorders. About 25% of patients with thymoma-associated MG have at least one non-motor symptom. Non-motor symptoms affect many target organs and result in a broad spectrum of disease, ranging from the impairment of quality of life to lethal conditions. Since relatively little attention is paid to non-motor symptoms in patients with thymoma-associated MG, the symptoms may be overlooked by many physicians. Early diagnosis is important, since non-motor symptoms can be treatable. A complete understanding of non-motor symptoms is necessary for the management of patients with thymoma-associated MG.
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PMID:Overlooked non-motor symptoms in myasthenia gravis. 2317 56

Autoimmune myasthenia gravis (MG) comprises a broad spectrum of non-motor symptoms. Patients with MG sometimes have psychiatric symptoms, such as depression and anxiety, which impair their quality of life. However, these symptoms are not principally immune-mediated. Moreover, some patients with MG have additional autoimmune disorders. The clinical manifestations of these diseases are also considered non-motor symptoms, even though the autoimmune mechanisms underlying the association between MG and these disorders are not fully understood. In this review, we clarify that the non-motor symptoms of autoimmune disorders are attributed to abnormal T-cell clones from thymomas. We review the clinical characteristics of patients with MG and associated thymomas who exhibit non-motor symptoms based on previously reported cases and our multicenter cooperative study. CD8+ T-cell cytotoxicity against hematopoietic precursor cells in the bone marrow and unidentified autoantigens in hair follicles result in the development of pure red cell aplasia, immunodeficiency, and alopecia areata. In contrast, neuromyotonia, limbic encephalitis, myocarditis, and taste disorders are autoantibody-mediated disorders, as is MG. Autoantibodies to several types of voltage-gated potassium channels and related molecules can evoke various neurological and cardiac disorders. Approximately 25% of patients with MG and associated thymomas experience at least one non-motor symptom. Non-motor symptoms affect many target organs and result in a broad disease spectrum, ranging from the impairment of quality of life to lethal conditions.
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PMID:[Non-motor symptoms in myasthenia gravis: attributed to T-cell clones from thymoma]. 2356 96

A 26-year-old Chinese male consulted with the team regarding his alopecia areata and vitiligo for which previous treatment was ineffective. The patient, a homosexual man, denied having a history of drug abuse and of blood transfusion. No member of his family had vitiligo or alopecia. Laboratory studies revealed that the serum for anti-human immunodeficiency virus (HIV) antibody was positive. The patient's CD4 lymphocyte count and CD4/CD8 ratio were both strikingly low (20 cells/mL and 0.04), but no other complaints or opportunistic infections were reported. One month after antiretroviral therapy, the patient's alopecia areata dramatically improved, but no evident improvement in his vitiligo was found. This case is a very rare case of alopecia areata and vitiligo associated with HIV infection that might be attributed to the generation and maintenance of self-reactive CD8+ T-cells due to chronic immune activation with progressive immune exhaustion in HIV infection.
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PMID:Alopecia areata and vitiligo as primary presentations in a young male with human immunodeficiency virus. 2470 Sep 56

Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator. Here, we describe a 24-year-old male born from consanguineous parents with heterozygous CTLA-4 mutation who presented with multiple autoimmune diseases. His past clinical history revealed alopecia areata at four years old and subsequently, he developed Evans syndrome, type 1 diabetes mellitus, hypothyroidism, and chronic diarrhea while chronic rhinosinusitis and cytomegalovirus (CMV) colitis were the only infectious manifestations. Immunologic investigations revealed: low B cell count, abnormal Lymphocyte transformation test (LTT) to phytohemagglutinin (PHA), and hypogammaglobulinemia. Although all available treatments such as Intravenous Immunoglobulin (IVIG) therapy, immunosuppressive drugs, and antibiotic therapy were applied, diarrhea was not controlled due to colitis, which remained challenging. Whole exome sequencing was performed and the result showed heterozygous variant CHR2.204,735,635 G>A in the CTLA-4 gene, which was confirmed by the Sanger method. CTLA4 haploinsufficiency leads to autoimmune disorders, recurrent respiratory infections, hypogammaglobulinemia, lymphoproliferation with organ infiltration, and lymphocytic interstitial lung disease.
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PMID:A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report. 3299 1


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