Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency. Lentiviral vectors are used for gene therapy in a mouse model of this disease. In addition, by a direct genetic correction approach, a diagnostic test to determine which of the four MHC II genes is defective in new MHC II-deficiency patients has been optimized.

The expression of MHC class II molecules is essential for all Ag-dependent immune functions and is regulated at the transcriptional level. Four trans-acting proteins control the coordinate expression of MHC class II molecules: class II trans-activator (CIITA), regulatory factor binding to the X box (RFX)-associated protein; RFX protein containing ankyrin repeats, and RFX5. In humans, defects in...

Iodine deficiency disorders (IDD) have been a major health problem in Iran. In order to train primary health workers (Behvarz) the diagnosis of visible goiter, two methods were compared. I: With head and neck in normal position; II: With extended neck. Behvarzes in 29 rural health centers in Ghazvin were trained method I an d30 were trained method II. 1541 school children in Ghazvin and 1532 in...

Major Histocompatibility Complex class II (MHC-II) deficiency is a disease of gene regulation that provides a unique opportunity for the genetic dissection of the molecular mechanisms controlling transcription of MHC-II genes. Cell lines from MHC-II deficiency patients have been assigned to three complementation groups (A, B and C) believed to reflect the existence of distinct essential MHC-II ...

  Background : Magnesium is the second most abundant intracellular cation. It plays an important role in insulin homeostasis and glucose metabolism through multiple enzymatic reactions. With increasing data on magnesium deficiency in diabetic patients and epidemiological studies demonstrating magnesium deficiency as a risk factor for diabetes, it is logical to search for its possible beneficial...

Carnitine palmitoyltransferase II (CPT II) deficiency is one of the most common causes of fatty acid oxidation metabolism disorders. However, the molecular mechanism between CPT2 gene polymorphisms and metabolic stress has not been fully clarified. We previously reported that a number of patients show a thermal instable phenotype of compound hetero/homozygous variants of CPT II. To understand t...

Major histocompatibility complex class II expression deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is the highest in Mediterranean areas, especially North Africa. Early diagnosis is essential due to high mortality in the first 2 years of life. Prognosis is very poor when bone marrow transplantation cannot be performed. We report the ca...

Deficiency of vitamin D3 has become common in both developed and developing countries. Vitamin D receptors are found on the granulosa cells ovarian tissue its deficiency plays a role dysfunction. Anti Mullerian Hormone (AMH) is generated small growing follicles ovaries by cells. Serum AMH one marker for reserve. We reviewed current literature present clinical practice. There relationship betwee...