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

Thu May 4 20:27:44 EDT 2017

Thank you so much beata. 

Leo 

Sent from my iPhone

> On 4 May 2017, at 09:00, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> 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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