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

[CIS-PIDD]

Erwin,

Uveitis is also associated with HLA-B27, and commonly in a Behçet's-like form with HLA-B35, and to some extent with B52.  Many infectious organisms can also precipitate uveitis.  Strep has been a common one that we have seen.  Thus the uveitis may or may not be a component of the rest of the features.  Do you know the HLA type, or was it merely a request for B51 positive or negative?

Terry Harville MD PhD D(ABMLI) D(ABHI)
*Medical Director, Histocompatibility Laboratory
*Medical Director, Immunogenetics and Transplantation Laboratory
*Specialist in Pediatric Allergy, Asthma, Immunology, Rheumatology, Autoimmunity, Hematopoietic Stem cell Transplantation for Immunodeficiencies, and Organ Transplantation Immunology
*Diplomate of the American Board of Medical Laboratory Immunology - specializing in diagnostic evaluations of immunodeficiencies
*Diplomate of the American Board of Histocompatibility and Immunogenetics - specializing in pre- and post-transplantation diagnostic evaluations, disease associations, and platelet transfusion support

Departments of Pathology and Laboratory Services and Pediatrics
University of Arkansas for Medical Sciences
4301 West Markham
Mail Slot #502
Little Rock, AR  72205-7199


Email:............................................................harvilleterryo at uams.edu


Office Phone 1...................................................................501.526.7511
Office Phone 2...................................................................501.686.7556
Office Fax...........................................................................501.526.4621
Histocompatibility Laboratory.........................................501.686.7257
Histocompatibility Laboratory Fax..................................501.686.7443
Immunogenetics and Transplantation Laboratory........501.686.7374

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Friday, April 28, 2017 10:54 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Subject: [cis-pidd] <no subject>

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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