[CIS-PAGID] Hermansky Pudlak like syndrome

[Ciaccio, Christina, E]

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)