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cgd carriers I wanted to know about CGD carriers and lyonization. Any one has come with any new information on lyonization and lupus like symptoms?
Submitted by prateja on Sun, 2009-05-31 09:19. categories [ General Discussion ]
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 Hi, sorry I missed your questions when you posted it. I am a highly lyonized carrier with about 5% normal functioning cells. I also have lupus (slightly positive ANA, many symptoms such as joint pain and skin rash). Lupus-like symptoms are common in CGD carriers, specificly in carriers of the X-linked, gp91 affected version of CGD. Here is a study done in regards to symptoms, ANA testing, etc.: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1868856 The study shows no correlation between lyonization and lupus. Many carriers will test negative or only slightly positive on an ANA, so carriers should be treated based on lupus-like symptoms, not based on the ANA results alone. If you have more questions, let me know. Thanks! Gina Gina,
My name is Saila. My husband's name is Brahmaji. We have a 13 year old daughter with multiple vague symptoms suffering from unexplained fevers, short stature, ANA slightly positive, has esophageal spasms with GERD and hypothyroidism. My son is patient of Dr.Holland. She does not have typical joint pains but has low threshold for pain when she gets fevers. Her DHRs are dropping to below 10% I do not know for how long but found i n past one year. At what age did you notice that DHRs drop down? Did they ever back up by themselves? i.e more than 20% or so. I would like your email address if it is OK with you. Who is your doctor. I have a suspicion that my daughter has lupus like symptoms.
Thanks,
Saila. Salia, I am not familiar with the phrase DHR, but if it refers to the level of lyonization, I was not diagnosed until I was 23. My normal functioning cells have consistently been around 5% since then. I have read studies suggesting that lyonization can occur with age, but not of numbers getting stronger. I will pm you my email address.
Gina Gina,
My email address is Prateja@aol.com. That is common for me and my husband. DHR'S is in reference to lyonization. That is the test doctors do for lyonization. Dihydro something. Anyway please email me. For my daughter, they are fluctuating, reason unknown/ hypothetical.
Thanks,
Saila.
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Neutrophil Oxidative Burst Assay (DHR)
Use along with other clinical findings to diagnose chronic granulomatous disease (CGD)
Characterize autosomal recessive CGD and X-linked carrier status