Griscelli Syndrome Type 1

Common Name(s)

Griscelli Syndrome Type 1

Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome ({9:Menasche et al., 2002}). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 ({607624}), is caused by mutation in the RAB27A gene ({603868}). Griscelli syndrome type 3 ({609227}), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH; {606526}) or MYO5A genes. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation ({10:Menasche et al., 2000}), some show severe neurologic impairment early in life without apparent immune abnormalities. {2:Bahadoran et al. (2003)} characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse. {1:Anikster et al. (2002)}, {9:Menasche et al. (2002)}, {7:Huizing et al. (2002)}, and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome ({256710}) in some patients and GS1 represent the same entity.
 

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
 

Status: Recruiting

Condition Summary: SCID; Omenn's Syndrome; Reticular Dysgenesis; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; Common Variable Immunodeficiency; Chronic Granulomatous Disease; CD40 Ligand Deficiency; Hyper IgM Syndrome; X-linked Lymphoproliferative Disease; Hemophagocytic Lymphohistiocytosis; Griscelli Syndrome; Chediak-Higashi Syndrome; Langerhan's Cell Histiocytosis

 

Last Updated: 15 May 2014

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