[CIS PIDD] [cis-pidd] Advise for the management of a CGD patient

[CIS-PIDD]

Dear Guisela, 
  
First, I would do a genetic test to verify the diagnosis. If the mother is a carrier the gene encoding gp91phox will have a mutation. Related to the transplant I would  read the paper British Journal of Haematology, 2009; 145:73-83. 
Best regards, 
  
Lourdes Tricas 
 Immunology Department, Hospital Universitario Central de Asturias, Oviedo, Spain 
lourdes.tricas at sespa.es 
  

----- Mensaje original -----

De: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
Para: "CIS-PIDD" <cis-pidd at lyris.dundee.net> 
Enviados: Martes, 29 de Septiembre 2015 6:23:57 
Asunto: [cis-pidd] Advise for the management of a CGD patient 



Good evening everybody. 

  

In this opportunity, I would like your advice about the management of a patient I am following. 

  

He is a 2 year old Peruvian patient, diagnosed with CGD at the beginning of this year. He presented his first severe infection this January: left foot osteomyielitis, positive for Serratia marcescens. He has a positive DHR assay (NOI = 1) and her mother´s compatible with a carrier state. No genetic tests have been performed (we don´t have them). 

  

After that episode, he has been well, with Azytromicin and Fluconazol prophylaxis, until 1 week ago, where he was admitted due to a fever of unknown origin.  

  

He has no siblings. His parents are very young (21 and 26 years old) but very responsible and committed. They are extremely poor (worry about their living conditions). 

  

Our main difficulty is that he has no matched related donor (no siblings), and for him to enter the programme of international donor search will take around 3 years (insurance policy burocracy). We are afraid that he could have a serious infection during that time and that his dad could loose the insurance (he is really trying to maintain his job right now). 

  

So my questions or plea for help are as follows: 

1) Would you advise us to do, right now, a haploidentical transplant? (we have already done HLA studies, his dad will be the donour) or to better wait and try to do an unrelated matched one? 

2) I´m worried about our country´s experience (really none), is there a place with better experience in haploidentical transplants?  

3) Is there any place that could help us doing first the search for a matched donor and then the transplant? 

  

Thank you for your time. 

Looking forward for your suggestions. 

  

Sincerely 

  

Guisela Alva Lozada 

Allergy and Immunology Fellow 

Hospital Edgardo Rebagliati Martins 

Lima - Peru 




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