Patients were identified who are affected by Griscelli syndrome type 2 in the absence of albinism. All the patients bear biallelic mutations in RAB27A gene, which disrupt the interaction of Rab27a with Munc14-4 but not those with melanophilin, thus explaining immunodeficiency without albinism.
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding / Valentina Cetica; Yvonne Hackmann; Samantha Grieve; Elena Sieni; Benedetta Ciambotti; Maria Luisa Coniglio; Daniela Pende; Kimberly Gilmour; Paolo Romagnoli; Gillian M. Griffiths; Maurizio Aricò. - In: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 0091-6749. - STAMPA. - 135:(2015), pp. 1310-1318. [10.1016/j.jaci.2014.08.039]
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
ROMAGNOLI, PAOLO;
2015
Abstract
Patients were identified who are affected by Griscelli syndrome type 2 in the absence of albinism. All the patients bear biallelic mutations in RAB27A gene, which disrupt the interaction of Rab27a with Munc14-4 but not those with melanophilin, thus explaining immunodeficiency without albinism.
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