[CIS PIDD] [cis-pidd] MHCII Deficiency

[Church, Joseph]

Colleagues:

I am following a 5yo boy with a very complex infectious history and recently documented MHCII deficiency.  Dad is Persian, Mom is Latino, and SNP microarray does not indicate consanguinity.

RFXANK, RFX5 and RFXAP sequencing is normal.
CIITA sequencing is pending.

Are there other causes of MHCII deficiency to look for?

Are there any research labs interested in studying this patient?

Any help would be greatly appreciated.

Joe Church
Children's Hospital Los Angeles






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