scid disorder is major failure of the immune system, usually genetic. the aim of this study was on mutations detection of rag1, rag2, and il7rg genes in scid cases. mutation detection was performed by pcr sequencing. our results  indicated  that 13  mutations  were found  through  cases which  include 4 mutations in il7r gene (t661i, i138v, t56a, c57w), 7 mutations in rag1 (w896x, w204r, m324v,...

abstract background iron-deficiency anemia is a widespread public health problem with major consequences for human health especially, children. however, in a fraction of patients an underlying cause is never found during routine investigation. recent studies have suggested an association between helicobacter pylori (h. pylori) infection and iron-deficiency anemia. case presentation here is repo...

The platelets of an infant with severe combined immune deficiency and adenosine deaminase deficiency showed markedly diminished responses to ADP-induced aggregation in vitro. This abnormality was corrected by the addition of purified adenosine deaminase in vitro. Exogenous adenosine added to platelet-rich plasma caused markedly prolonged inhibition of ADP-induced aggregation. This was shown by ...

Background: Vitamin D (VitD) plays a significant role in human health, survival, and fertility. It is necessary for calcium absorption and bone growth and the regulation of the immune system. This study aims to determine the prevalence of VitD deficiency and the factors affecting it in women working in the campus of Gonabad University of Medical Sciences, Gonabad City, Iran. Methods: In this c...

Despite the first application of gene therapy in 1990, gene therapy has until recently failed to meet the huge expectations set forth by researchers, clinicians, and patients, thus dampening enthusiasm for an imminent cure for many life-threatening genetic diseases. Nonetheless, in recent years we have witnessed a strong comeback for gene therapy, with clinical successes in young and adult subj...

Adenosine deaminase (ADA) deficiency results in a combined immunodeficiency brought about by the immunotoxic properties of elevated ADA substrates. Additional non-lymphoid abnormalities are associated with ADA deficiency, however, little is known about how these relate to the metabolic consequences of ADA deficiency. ADA-deficient mice develop a combined immunodeficiency as well as severe pulmo...