[PAGID] Griscelli, Elejalde

[Elena Perez]

Is there anyone doing sequencing of the myo5a and/or Rab27a gene?

I have an 18mo old male patient referred for possible Griscelli or
Elejalde, who on immune evaluation is normal for age. { ALC 6488, IgG
578, IgA 36, IgM 69, abs CD3 5210, abs NK 219, abs CD20 1122, normal
DCF, normal functional NK cell assay, normal mitogens, CMV serology
negative. He does have developmental delay/FTT starting around 4mo of
age, and pigmentary dilution.  However, skin biopsy showed "normal
number of melanin granules".  With normal immune labs and neurologic
findings, he would probably fit into more of the Myo5a picture, if he
does have this.
Any thoughts appreciated.

Elena Perez, M.D., Ph.D.
Children's Hospital of Philadelphia
Division of Allergy and Immunology