What is it about?
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder in which the microbicidal capacity of the phagocytic cells is reduced and this leads to recurrent and life-threatening bacterial and fungal infections in affected patients. We have introduced 3 new mutations of CYBA gene (P22-phox deficiency) in some of Iranian patients with autosomal recessive chronic-CGD (AR-CGD). We have done NBT (Nitro blue tetrazolium) and DHR assay (Dihydrorhodamine) for selecting these patients and confirmed with Western blotting and PCR sequencing.
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Why is it important?
These three novel mutations can partly complete the database of Human Gene Mutation Database (HGMD) and other related ones. It can also be helpful for further prenatal diagnosis in the affected families.
Perspectives
Given that currently bone marrow transplantation is considered to be the curative treatment for patients with CGD, finding mutations will also be useful for timely decision-making in bone marrow transplantation.
Shaghayegh Tajik
mmunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences
Read the Original
This page is a summary of: Three novel mutations in CYBA
among 22 Iranians with Chronic granulomatous disease, International Journal of Immunogenetics, September 2017, Wiley,
DOI: 10.1111/iji.12336.
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