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Griscelli syndrome type 2

A hereditary autosomal recessive disorder characterized by immune deficiency, hypopigmentation of the skin and hair, and hemophagocytic lymphohistiocytosis resulting in multiple organ failure. Mutations in the RAB27A gene have been identified. OMIM: 607624
Also Known As:
Albinism, partial with immunodeficiency; Griscelli Syndrome, Type 2; Griscelli syndrome with hemophagocytic syndrome; Partial Albinism And Immunodeficiency Syndrome; Partial albinism and immunodeficiency
Networked: 15 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome)
2. Muscle Weakness
3. Neoplasms (Cancer)
4. Myositis (Idiopathic Inflammatory Myopathies)
5. Immune System Diseases (Immune Disorders)

Experts

1. Fischer, Alain: 3 articles (07/2009 - 04/2003)
2. de Saint Basile, Geneviève: 2 articles (07/2009 - 08/2006)
3. Aerts-Kaya, Fatima: 1 article (01/2021)
4. Alcántara-Ortigoza, M A: 1 article (01/2021)
5. Bilgiç, Elif: 1 article (01/2021)
6. Durán-McKinster, C: 1 article (01/2021)
7. Erol, Özgür Doğuş: 1 article (01/2021)
8. González-Del Angel, A: 1 article (01/2021)
9. Günel-Özcan, Ayşen: 1 article (01/2021)
10. Güney-Esken, Gülen: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Griscelli syndrome type 2:
1. Proteins (Proteins, Gene)FDA Link
2. Monomeric GTP-Binding ProteinsIBA
3. PerforinIBA
4. Cyclosporine (Ciclosporin)FDA LinkGeneric
5. Etoposide (VP 16)FDA LinkGeneric
6. Cyclophosphamide (Cytoxan)FDA LinkGeneric
7. Creatine Kinase (Creatine Phosphokinase)IBA
8. Busulfan (Busulfex)FDA Link
9. Amino AcidsFDA Link
10. Adrenal Cortex Hormones (Corticosteroids)IBA

Therapies and Procedures

1. Hematopoietic Stem Cell Transplantation
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Stem Cell Transplantation
4. Cell Transplantation
5. Transplantation