نتایج جستجو برای: antibody deficiency syndrome
تعداد نتایج: 889912 فیلتر نتایج به سال:
Celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. It occurs in children and adolescents with gastrointestinal symptoms, dermatitis herpetiformis, dental enamel defects, osteoporosis, short stature, delayed puberty and persistent iron deficiency anemia and in asymptomatic individuals with type 1 diabetes, Down syn...
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch ...
Autoimmune lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome (ALPS) and Dianzani autoimmune lymphoproliferative disease (DALD), are inherited defects of the Fas apoptotic pathway characterized by lymphoid accumulation and autoimmune manifestations. We report the molecular, clinical, immunologic features and the long-term progress of 31 patients. Four carried Fas g...
The pituitary-specific transcriptional factor-1 (PIT-1, also known as POU1F1), is an essential factor for multiple hormone-secreting cell types. A genetic defect in the PIT-1 gene results in congenital growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH) deficiency. Here, we investigated 3 cases of adult-onset combined GH, PRL, and TSH deficiencies and found that the endo...
The authors compared cases of acquired immunodeficiency syndrome (AIDS) diagnosed in San Francisco, California, during 1983-1984 with human immuno-deficiency virus (HIV) antibody-negative neighborhood and clinic controls, looking for risk factors for clinical AIDS. They also compared antibody-positive with antibody-negative neighborhood and clinic controls for risk factors for HIV infection. Od...
Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We the case of a 30-year-old vegan male presenting tremors on both legs when standing which was relieved by vitamin supplementation. To best our knowledge, this is first documented slow orthostatic tremor or pseudo-orthostatic caus...
to the editor: Ramaekers et al. (May 12 issue)1 report 28 patients with the cerebral folate deficiency syndrome characterized by decreased levels of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid caused by autoantibodies’ blocking of folate transport into the brain. The patients benefited from folinic acid supplementation. The clinical features of this syndrome fit with other neuro...
We treated a female patient suffering from immunoglobulin A (IgA) nephropathy and congenital deficiency of the ninth component of the complement system (C9). She was admitted with hematuria and proteinuria, and the C9 deficiency was diagnosed based on the low hemolytic activity of 50 % of the hemolytic unit of the complements (CH50) and the normal C3 level in the plasma. Renal biopsy revealed m...
Several lines of evidence suggest that deficiency of eosinophils is not associated with any characteristic abnormality. Patients lacking eosinophils, in the setting of immunodeficiency or as a consequence of IgG-mediated eosinophil precursor destruction, do not display any distinguishing abnormalities related to eosinophil reduction. The observation that eosinophil-deficient mice do not display...
Fifty four sexual partners of homosexual men with the acquired immune deficiency syndrome (AIDS) were studied, of whom 32 were seropositive and 22 seronegative for human T cell lymphotropic virus type III or lymphadenopathy virus (HTLV-III/LAV) antibody, which showed that repeated exposure by anal intercourse does not necessarily lead to seroconversion. Seropositivity to HTLV-III/LAV was not as...
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