[CIS PIDD] [cis-pidd] STXBP2

Thu Jun 8 17:09:15 EDT 2017

If STXBP2 is the culprit, CD107A degranulation should be abnormal.

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 Jun 8, 2017, at 4:53 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hi Tony,

It has been reported at least once:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351505/<https://urldefense.proofpoint.com/v2/url?u=https-3A__www.ncbi.nlm.nih.gov_pmc_articles_PMC4351505_&d=DwMF-g&c=P0c35rBvlN7D8BNx7kSJTg&r=7_Xi_iO9LJTHr-vy99jYOfSlhgVB29ez3xj6iG4Kpn0&m=lkwzVTflYXt2TkmT_tlN3_TSOr-9lUeZ_ZArrwBcDJo&s=ch-5_I0NfNJ1-MciIDTS-nCtLdWHZhmno6BLlaH9SMA&e=>

 - Ivan

From: <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Thursday, June 8, 2017 at 3:47 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] STXBP2

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I have a 20 year old female patient who has a lifelong history of recurrent febrile illnesses, mainly viral. Many without prominent symptoms other than fever, often with oral aphthous ulcers, maybe one or two occurrences of vaginal ulcers. Colleagues in rheumatology have been treating her as an autoinflammatory disorder, she responded partially to colchicine, but broke through frequently with lots of oral ulcers. She also happens to have multiple personality disorder.

The only immunologic abnormality is absent or very low NK function on 2 occasions.

A recent NGS panel showed a few heterozygous changes including deletion of most of one copy of TTC37, and point mutations in C3, RAG1, and STXBP2. I find the latter most curious of the lot, and I am confirming the result by Sanger sequencing.

Does anyone know of HLH associated with heterozygous mutation in STXBP2?
Thank you.
Tony B.

Francisco A. Bonilla, M.D., Ph.D.
Director, Clinical Immunology Program, Boston Children's Hospital
Associate Professor of Pediatrics, Harvard Medical School

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