[PAGID] CIITA sequencing?

[salem AL-Tamemi]

In MHC II deficiency
the gene defect is in the transcription factors
"The bare lymphocyte syndrome (BLS) is a disease of MHCII gene regulation.
BLS is characterized by a dissociation between the genes that are mutated in the disease
RFX5, RFXAP, CIITA and RFXANK on chromosomes 1, 13, 16 and 19, respectively"
Reith at all 2001

Salem

Salem H. AL-Tamemi, MD. FAAP. FRCPC
Consultant
Clinical Immunology & Allergy
Child health department
Sultan Qaboos University Hospital
PO Box 96
PC 123 SQU
Muscat - Oman
________________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Chinen, Javier [jxchinen at texaschildrens.org]
Sent: Wednesday, December 24, 2008 9:13 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] CIITA sequencing?

We have a SCID baby with HLA-DR genes present however total absence of
expression. I would appreciate information on researchers who are
currently working on MHC Class II deficiency.
Thanks,

Javier


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