[CIS-PAGID] Hermansky Pudlak like syndrome

[Sullivan, Kathleen]

Chediak?
On Mar 29, 2011, at 1:37 PM, Ciaccio, Christina, E wrote:


> All-

> 

> I'm working with a group that has identified a relevant mutation in a 17-year old girl with features suggestive of Hermansky-Pudlak syndrome or Griscelli syndrome but lacking mutations in AP3B1 and RAB27A.  

> 

> Her findings include recurrent cutaneous infections, oculocutaneous albinism, nystagmus, leukopenia, thrombocytopenia as well as decreased NK and neutrophil fxn.

> 

> The group is looking for any subjects with a similar phenotype for genetic analysis of the same gene.  Please contact me if you know of any potential candidates.

> 

> Thanks

> Chrissy

> 

> Christina Ciaccio, M.D.

> Assistant Professor, Allergy/Immunology

> University of Missouri-Kansas City

> Children's Mercy Hospital and Truman Medical Center

> 816-234-3097 (phone)

> 816-346-1301 (fax)


Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363