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

[CIS-PIDD]

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<mailto: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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