[CIS PIDD] [cis-pidd] <no subject>

[CIS-PIDD]

Any neurological symptoms?  Is the vitiligo prominent on the face/around the eyes - Vogt-Koyanagi-Harada syndrome comes to mind.
Prescott

T. Prescott Atkinson, MD PhD, Professor and Director
Division of Pediatric Allergy, Asthma & Immunology
University of Alabama at Birmingham
Tel: 205-996-9582
Fax: 205-975-7080



From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Friday, April 28, 2017 11:34 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Subject: Re: [cis-pidd] <no subject>

Hi Erwin,
  Does she have any of those NOD2 variants associated with autoinflammation? They are not always reported in WES.
Best,
Anthony Hayward

Sent from my Verizon 4G LTE Smartphone

------ Original message------
From: CIS-PIDD
Date: Fri, Apr 28, 2017 11:54 AM
To: CIS-PIDD;
Cc:
Subject:[cis-pidd]

Help!
I am following a 15 year old female referred because of severe uveitis, tall stature, megacephaly, alopecia,vitiligo, some mental delay (mild), single episodes of genital and oral lesions. Originally thought to be Bechet's but uveitis not typical and B51 negative. Whole exome sequencing revealed a de novo variant (deletion) in a gene SETD2 which has been associated with the very rare Luscan-Lumish syndrome which she doesn't fit. Also SETD2 implicated in leukemogenesis.
Anybody with thoughts, interest in pursuing, experience, more than welcome




Erwin W. Gelfand, M.D.
Department of Pediatrics
National Jewish Health
1400 Jackson Street
Denver, CO 80206
Ph: 303-398-1196
Fax: 303-270-2105
E-mail: gelfande at njhealth.org<mailto:gelfande at njhealth.org>





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