Background: Sulfur mustard was the most widely applied chemical warfare agent by the Iraqi army in Iran–Iraq war (1983-1988). Considering the role of sulfur mustard toxicity in hematopoietic neoplasms and also new role of JAK2 mutation in these neoplasms, we assessed this mutation and delayed hematologic complications in veterans exposed to sulfur mustard. Methods: This case control st...

Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...

hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. we report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. neurological examination showed that he had proximal lower limbs weakness with a positive gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle wa...

the autism spectrum disorders (asd) are amongst the most heritable complex disorders. although there have been many efforts to locate the genes associated with asd risk, many has been remained to be disclosed about the genetics of asd. scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to asd. these only comprise a s...

evidence showed that chemokines serve as pro-migratory factors for immune cells. ccl3, ccl4 and ccl5, as the main cc  chemokines subfamily members, activate immune cells through binding to cc chemokine receptor 5 or ccr5. macrophages, nk cells and t lymphocytes express ccr5 and thus, affected ccr5 expression or functions could be associated with altered immune responses. deletion of 32 base pai...

background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta glo­bin genes. the aim of the present study was to identify the distribution and frequency of the most com­mon β-thalassemia mu­tations among the population of isfahan province in central iran. methods: the data presented here were derived from a total of 114 β-thalassemia chro...

abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...

introduction: about half of acute myeloid leukemia (aml) adult patients have no cytogenetic abnormalities as a main determinant of complete remission after treatment, so other markers are needed such as flt3-itd (fms-like tyrosine kinase3-internal tandem duplication) mutations in patients with normal karyotype. the objective of this study was assessing the frequency of flt3-itd mutations and it...