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Results 1 - 6 of 6 for Griscelli syndrome type 2
  1. Griscelli syndrome 
    ... disease are actually the same disorder.People with Griscelli syndrome type 2 have immune system abnormalities in addition to having ... complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type ...
    https://medlineplus.gov/genetics/condition/griscelli-syndrome - Genetics
  2. RAB27A gene 
    ... lymphocytes impairs cytotoxic granule exocytosis, making people with Griscelli syndrome type 2 prone to recurrent infections.Through mechanisms that are ...
    https://medlineplus.gov/genetics/gene/rab27a - Genetics
  3. Find an Expert Immunologist (Jeffrey Modell Foundation)  
    ... are inherited in an autosomal recessive pattern. Type 2 (RAB27A) is the most frequent type of Griscelli Syndrome, characterized by recurrent infections, organ and tissue damage, ...
    https://info4pi.org/...?findAnExpert=true&searchBy=place&searchTerm= - Other Resources
  4. MYO5A gene 
    ... be critical for normal brain function. At least two mutations in the MYO5A gene have been found in people with Griscelli syndrome. These mutations cause a form of the condition designated type 1, which is characterized by unusually light (hypopigmented) ...
    https://medlineplus.gov/genetics/gene/myo5a - Genetics
  5. Immune System and Disorders (National Library of Medicine)  
    What is the immune system? Your immune system is a complex network of cells, tissues, and organs. Together they help the body fight infections and other ...
    https://medlineplus.gov/immunesystemanddisorders.html - Health Topics
  6. ATM gene 
    ... R468. doi: 10.1016/s0960-9822(03)00403-2. No abstract available. Citation on PubMed Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias ...
    https://medlineplus.gov/genetics/gene/atm - Genetics