Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.

Journal of investigational allergology & clinical immunology - 1 Jan 2010

Shamsian B S, Norbakhsh K, Rezaei N, Safari A, Gharib A, Pourpak Z, Alavi S, Parvaneh N, Arzanian M T

Abstract excerpt

Griscelli syndrome type 2 is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous hypopigmentation and variable cellular immunodeficiency. We report the case of a 6-month-old infant with silvery hair, eyelashes, and eyebrows who was referred to our center because of fever and hepatosplenomegaly. Bone marrow studies indicated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Lymphohistiocytosis, Hemophagocytic

Share to Piebaldism

Share to Primary Immunodeficiency Diseases

Share to rab GTP-Binding Proteins

Share to rab27 GTP-Binding Proteins

Source

Identifiers

PMID: 21314004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.PMID 21314004Read ↗

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.Semantic proximity Read ↗

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Semantic proximity Read ↗

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Semantic proximity Read ↗

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.Semantic proximity Read ↗

Molecular analysis and clinical findings of Griscelli syndrome patients.Semantic proximity Read ↗

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.Semantic proximity Read ↗

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.Semantic proximity Read ↗

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.Semantic proximity Read ↗

Seizure as the presenting manifestation in Griscelli syndrome type 2.Semantic proximity Read ↗

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Semantic proximity Read ↗

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.Semantic proximity Read ↗

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.