[CIS PIDD] [cis-pidd] ADA2 deficiency?

Fri May 5 08:28:25 EDT 2017

That's what I wanted to know.. if anti-tnf helped this patient.

Sent from my iPhone

> On 5 May 2017, at 09:05, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Dear Beata,
> the results of HSCT in ADA2 deficiency seem very good, as well as anti-TNF in vasculitis-like and disorders and stroke (which does not seem to be the main feature of your patient).
> Did you have the plan to propose a HSCT for your patient ? What about possible donors ?
> All the best
> Elie
> 
> 
> Elie Haddad, MD, PhD,
> Professor of Pediatrics, University of Montreal,
> Head, Pediatric Immunology and Rheumatology Division,
> CHU Sainte-Justine, 3175 Cote Sainte-Catherine
> Montreal, QC, H3T 1C5, Canada
> Ph: 1 514 345 4713
> fax: 1 514 345 4897
> e-mail: elie.haddad at umontreal.ca
> 
> 
> 
> 
> 
>> Le 2017-05-04 à 08:00, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> a écrit :
>> 
>> The patient developed a CVID-like clinical picture post RTX for her Evans-syndrome. She has been stable and doing very well on IVIG +MMF for many years. 
>>  
>> Beata
>>  
>> Beata Derfalvi  M.D., Ph.D.
>> Pediatric Immunologist, Rheumatologist
>> Associate Professor
>> Dept. of Pediatrics, Dalhousie University/IWK Health Centre
>> 5850 University Avenue
>> Halifax, Nova Scotia B3K 6R8 CANADA
>> ph 902-470-8481
>> fax 902-470-7812
>>  
>> From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
>> Sent: Wednesday, May 03, 2017 4:32 PM
>> To: CIS-PIDD
>> Subject: RE: [cis-pidd] ADA2 deficiency?
>>  
>> I am a lab person. This is Dr. Derfalvi’s patient. She can answer your question.
>> Thank you,
>> Yenhui
>>  
>> From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
>> Sent: Wednesday, May 03, 2017 1:34 PM
>> To: CIS-PIDD <cis-pidd at lyris.dundee.net>
>> Subject: Re: [cis-pidd] ADA2 deficiency?
>>  
>> I agree it fits the genetic founds... please let us know the uptakes after treatment. Whats the plan?
>> best 
>>  
>> leo
>>  
>> 2017-05-03 13:20 GMT-03:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:
>> Dear Dr. Kumar,
>> Thank you very much for your feedback. Now I have more confidence in pursuing further confirmation and looking into similar cases.
>> Warm regards,
>> Yenhui
>>  
>> From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
>> Sent: Tuesday, May 02, 2017 8:42 PM
>> To: CIS-PIDD <cis-pidd at lyris.dundee.net>
>> Subject: Re: [cis-pidd] ADA2 deficiency?
>>  
>> The phenotype fits with DADA2, you're probably right.
>> 
>> Ashish  
>> Ashish Kumar, MD, PhD 
>> Associate Professor 
>> Director, Pediatric Hematology-oncology fellowship program 
>> Director, Langerhans cell histiocytosis center 
>> Cincinnati Children's Hospital Medical Center 
>> 
>> On May 2, 2017, at 5:25 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
>> 
>> Dear All,
>>  
>> We tested a sample from a young girl with early-onset ITP and autoimmune hemolytic anemia with chronic splenomegaly and variable abdominal lymphadenopathy. The sample was sequenced with NGS technology using our 250 gene primary Immunodeficiency panel. A homologous insertion in exon 2 of CECR1 gene was identified. The variant Arg49Alafs*13 creates a frame shift starting at codon Arg49. The new reading frame ends in a stop codon 13 positions downstream.  The frequency of this variant is 0.024 in the general population. Her parents are first cousins, Middle-Eastern ethnicity.
>>  
>> Although ADA2 gene deficiency is characterized by various forms of auto inflammatory vasculitis it has a highly variable clinical expression.  Two cases with the same Arg49Alafs*13 variant and similar clinical expression with our patient were described in a recent paper by Dr. Polina Stepensky et al (J Pediatr 2016;177:316-2).  My understanding is that these two cases were both tested as ADA2 low activity by Dr. Hershfield’s group in Duke.
>>  
>> I strongly feel the variant Arg49Alafs*13 is accountable for this girl’s disease. If it is confirmed, she may get corresponding treatment. Please let me know your thoughts.
>>  
>> Thank you for your time and input.
>> Yenhui
>>  
>> Yenhui Chang, PhD
>> Immunogenetics
>> Johns Hopkins All Children’s Hospital
>> St. Petersburg, FL
>>  
>>  
>>  
>>  
>> 
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>>  
>> -- 
>>  
>> Leonardo Oliveira Mendonça
>> Médico Especialista em Imunologia Clínica e Alergia, Doenças Autoimunes e Autoinflamatórias
>> Médico Especialista em Clínica Médica/Medicina Interna
>>  
>> Leonardo Oliveira Mendonça, MD
>> Specialist in Clinical Immunology and Allergy, Autoimmune and Autoinflammatory disorders
>> Consultant Specialist in Internal Medicine
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