A 5-year-old boy presented with pyogenic abscess, runny nose, oral thrush & rash on perineal areas. On culturing pus Staphylococcus aureus was isolated. A test was performed whose finding is shown below. Which of the following is the most likely gene involved in the above condition: -
Image represents Nitroblue tetrazolium test which points to the diagnosis of CGD. 2nd image negative dihydrorhodamine test. Chronic granulomatous disease Immunodeficiency disorder Due to mutation in PHOX gene Also known as bridges good syndrome Has both autosomal recessive & X-linked recessive inheritance but X-linked recessive is most common. Characterised by recurrent infections by catalase positive organisms like s. Aureus, candida etc. The simplest and most rapid test for CGD is the NBT (Nitroblue tetrazolium) test. Neutrophils from a small sample of peripheral blood are activated to produce superoxide which is detected by the NBT, which is conveed from a yellow water-soluble compound to a dark-blue insoluble formazan that can be clearly detected microscopically.
LYST
PHOX
MYC
RAS
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