how to cite this article: mansouri nejad se, yazdan panah mj, tayyebi meibodi n, ashrafzadeh f, akhondian j, beiraghi toosi m, eslamieh h. griscelli syndrome: a case report. iran j child neurol. 2014 autumn;8(4): 72-75. objective griscelli syndrome (gs) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmon...

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,...

epstein-barr virus (ebv) was discovered 50 years ago from an african burkitt lymphoma cell line. ebv-associated lymphoproliferative disorders (lpds) are life-threatening diseases, especially in children. in this article, we review ebv-associated lpds, especially in the area of primary immunodeficiency disease (pid). we searched pubmed for publications with key words including ebv infection, lym...

primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. we constructed the dna banking of primary immunodeficiency disorders for the first time in iran. the dna of 31 immunodeficient patients and their families (total of 92 samples) were collected, as the first step for construction of d...

in this case report we will describe a rare association between anhyrotic ectodermal dysplasia (aed) and immunodeficiency and autoimmunity [in our case: idiopathic thrombocytopenic purpura (itp) and crohn disease]. aed is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. the survey of 87 cases with (aed) revealed only one irrit...

Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic malnutrition, human immunodeficiency virus (HIV), malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and...

pyoderma vegetans (pv) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. it is believed that this entity is mostly associated with inflammatory bowel disease (ibd), chronic malnutrition, human immunodeficiency virus (hiv), malignancies, and other immunocompromised states. pyoderma vegetans occurs more commonly in young and...

epidemiological studies have shown wide geographical and racial variation in the prevalence and patterns of immunodeficiency disorders. to determine the frequency of primary immunodeficiencies (pid) in iran, the iranian primary immunodeficiencies registry (ipidr) was organized in 1999. the diagnosis of immunodeficiency in our patients was based on standard criteria. the patient’s data were extr...