[CIS PIDD] [cis-pidd] DNA testing for EVER and CXCR4?

[Dewton Vasconcelos]

What about DOCK8 and GATA2?

Does he present fetaures that can be associated with these diseases?
I am remembering both diseases due to the fact that they can be 
extremely polymorphic and, besides EVER and WHIM, also present 
susceptibility to HPV as well as other viruses and proneness to neoplasias.
Moreover, ID with thymoma could be another possibility, as thymoma can 
precede, be concomitant and succeed immunodeficiency.

Regards,

Dewton

Dewton de Moraes Vasconcelos, MD, PhD
Primary Immunodeficiencies Outpatient Unit ADEE3003
Lab. of Medical Investigation Unit 56
University of São Paulo School of Medicine

Dr. Esther de Vries wrote:

> Dear colleagues, I have a patient (61yr male) with long-term very extreme therapy resistant warts, mild hypogammaglobulinemia, and condylomata accuminata. He is also a strong smoker, and was recently diagnosed with small cell lung carcinoma in an early stage (because I performed HRCT of the thorax to look for bronchiectasis which was not there). Surgery has been performed successfully and he did not need additional treatment. It seems no one does DNA testing for CXCR4 or EVER genes in the Netherlands. Does anyone know where I can have this performed?

> Thanks! Esther de Vries, Jeroen Bosch Hospital, the Netherlands

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