Griscelli syndrome type 2 with deletion of entire RAB27A gene
نویسندگان
چکیده
منابع مشابه
RAB27A Mutation in Griscelli Syndrome
1Department of Pediatric Hematology/Oncology, Mofi d Children Hospital, Shahid Beheshti Medical University, Tehran, Iran 2Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran 3Research Center for Immunodefi ciencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Scie...
متن کاملGriscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with ...
متن کاملClinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
BACKGROUND Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of G...
متن کاملGriscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairm...
متن کاملCerebellar involvement of Griscelli syndrome type 2.
Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the lit...
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ژورنال
عنوان ژورنال: Indian Journal of Case Reports
سال: 2020
ISSN: 2454-129X,2454-1303
DOI: 10.32677/ijcr.2020.v06.i12.005