[PAGID] CGD new mutation?

[Prof. Dr. Antonio Condino Neto]

Hi Nacho

X-linked CGD is very heterogenous. For instance, one of the databases  
compiling ~ 400 kindreds show that 300 have exclusive mutations in  
their families. In our series in Brazil, 25% of the cases are new  
mutations. So no surprise to find a new mutation.

If you make the diagnosis quickly the family has do decide to either  
make a BMT early in life (if you identify a donor soon) or interrupt  
pregnancy (consider legal, social and religious issues).

-- 
Antonio Condino-Neto
Professor, Department of Immunology
Institute of Biomedical Sciences, University of São Paulo
1730 Lineu Prestes Avenue, São Paulo - SP. ZIP 05508-000. Brazil
Tel (55) (11) 3091-7387 / Fax (55) (11) 3091-7224



Citando "Chinen, Javier" <jxchinen at texaschildrens.org>:


> Hi Nacho,

> What is the nt change?

> We have an X-linked CGD (heritance by pedigree) with a deletion of 4  

> nucleotides (4-7) in that position. No mutations on NCF1 or NCF2.

> Javier

>

> ________________________________

> From: pagid-bounces at list.clinimmsoc.org  

> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez

> Sent: Monday, September 07, 2009 9:03 AM

> To: pagid at list.clinimmsoc.org

> Subject: Re: [PAGID] CGD new mutation?

>

>

>

> Good morning, we have found a mutation in CYBB g.IVS6(+4) and it  

> doesn´t appear in the databases

> Does anyone know if it has been already described?

>

> I would like to clarify the question. two months ago we identified a  

> child with CGD. The mother is now pregnant of 14 weeks. This  

> mutation is for us unknown and in spain the legal week to interrupt  

> the pregnancy is 20. Now we are receiving DNA from two brothers of  

> the supposed carrier to test quickly the role of the change. If this  

> is does not clarify the case, we should work on mRNA and this would  

> take to us too much time than the pregnant perhaps has

>

> Thanks again

>

> Luis Ignacio Gonzalez Granado. Inmunoodeficiencies. Hospital 12 octubre.

>

>

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