[CIS-PAGID] Hermansky Pudlak like syndrome

[Nacho Gonzalez]

I agree with Kate,does the patient has bone abnormalities?
Luis I. Gonzalez Granado
Pediatrics.Hospital 12 octubre.Madrid.Spain

2011/3/29, Ciaccio, Christina, E <ceciaccio at cmh.edu>:

> 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)

>


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Enviado desde mi dispositivo móvil