Sultan Aydin Koker; Nesrin Gulez; Frederic Rieux-Laucat; Ferah Genel; Canan Vergin; Capucine Picard
Abstract
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. ALPS caused by defective lymphocyte homeostasis is characterized by non-malignant lymphoproliferation that often improves with age and is an autoimmune disease, ...
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Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. ALPS caused by defective lymphocyte homeostasis is characterized by non-malignant lymphoproliferation that often improves with age and is an autoimmune disease, mostly directed toward blood cells. This report describes a 17-year-old female with ALPS who developed skin rashes and aphthous stomatitis after using colchicine therapy owing to Familial Mediterranean Fever (FMF) with V726A heterozygous mutation in MEFV gene, hepatosplenomegaly, lymphadenopathy and pancytopenia, elevated vitamin B 12 and IL-10, elevated double-negative T cells (DNTs) and elevated immunoglobulin (Ig) G, consistent with a heterozygous germline FAS mutation [p.E261K (c.781G>A)]. In our country where genetic diseases are common due to consanguineous marriages, diseases with serious morbidity such as ALPS should be kept in mind. We should not forget that autoinflammatory diseases and familial Mediterranean fever can coexist owing to very high carrier rate in our country.
Seyed Mahmood Ghoraishian; Seyed Hossein Hekmati Moghaddam; Mohammad Afkhami-Ardekani
Volume 3, Issue 3 , September 2006, , Pages 146-149
Abstract
Background: Anti-thyroid peroxidase antibody (anti-TPO antibody) is a member of thyroid autoantibodies which are important in inducing and also diagnosing autoimmune thyroid diseases. Thyroid autoimmunity can cause several forms of thyroiditis and abnormal thyroid functions, ranging from hypothyroidism ...
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Background: Anti-thyroid peroxidase antibody (anti-TPO antibody) is a member of thyroid autoantibodies which are important in inducing and also diagnosing autoimmune thyroid diseases. Thyroid autoimmunity can cause several forms of thyroiditis and abnormal thyroid functions, ranging from hypothyroidism to hyperthyroidism. Objective: To evaluate the relationship between serum levels of anti-TPO antibody and thyroid function test parameters (T3, T4, and TSH) in patients with thyroid disease. Methods: In 2425 subjects suspected of having thyroid disease referred to Yazd central medical laboratory by physicians during a 2 year period, the concentrations of serum anti-TPO antibody (ELISA) and T3, T4, and TSH (RIA) were measured. Results: 53.53% of the patients were 20 to 39 years old. 2135 patients (88.04%) were female and 290 (11.96%) were male. The levels of T3, T4, and TSH in individuals with normal and raised anti-TPO antibody titers was significantly different (P<0.0001). A correlation between TSH and T4 levels and abnormal anti-TPO antibody was detected (P=0.002). Conclusion: Our results confirm the correlation between thyroid function test and anti-TPO antibody values, indicating the clinical significance of this antibody and suggesting a through clinical examination and follow up of individuals with high anti-TPO antibody titer.
Mohammad Javad Fattahi; Abdul Mohammad Pezeshki; Maryam Emad; Mohammad Hosein Lohrasb; Azra Shamseddin; Abbas Ghaderi; Mehrnoosh Doroudchi
Volume 2, Issue 2 , June 2005, , Pages 97-102
Abstract
Background: Vitiligo is an acquired skin disorder that selectively destroys melanocytes in epidermis with an unknown etiology. Objective: To investigate the exon 1 A49G polymorphism of cytotoxic T lymphocyte antigen-4 (ctla-4) gene in vitiligo patients. Methods: The A49G polymorphism was ...
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Background: Vitiligo is an acquired skin disorder that selectively destroys melanocytes in epidermis with an unknown etiology. Objective: To investigate the exon 1 A49G polymorphism of cytotoxic T lymphocyte antigen-4 (ctla-4) gene in vitiligo patients. Methods: The A49G polymorphism was detected by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method in 101 patients and 208 normal healthy age/ethnicity matched individuals. Results: The frequencies of heterozygote genotypes in patients and controls were found to be 42 (41.6%) of 101 and 85 (40.9%) of 208, respectively. The frequencies of homozygote A and G genotypes were 49 (48.5%) and 10 (9.9%) in 101 patients, whereas, these frequencies in 208 control individuals were 103 (49.5%) and 20 (9.6%), respectively. There was no significant difference between the genotype (P = 0.98) and allele (P = 0.86) frequencies of A49G polymorphism in patients and normal healthy individuals. Conclusion: Our results indicate that in contrast to several immune mediated disorders, there is no association between ctla-4 A49G gene polymorphism and vitiligo.
