[CIS PIDD] [cis-pidd] <no 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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