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

[CIS-PIDD]

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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