|1.||Henter, Jan-Inge: 4 articles (03/2012 - 02/2009)|
|2.||Heilmann, Carsten: 4 articles (04/2010 - 02/2009)|
|3.||Beutel, Karin: 3 articles (03/2012 - 02/2009)|
|4.||Bryceson, Yenan T: 3 articles (03/2012 - 11/2009)|
|5.||Meeths, Marie: 3 articles (04/2010 - 02/2009)|
|6.||Fischer, Alain: 3 articles (07/2009 - 08/2006)|
|7.||de Saint Basile, Geneviève: 3 articles (07/2009 - 08/2006)|
|8.||Janka, Gritta: 2 articles (06/2015 - 03/2012)|
|9.||Pende, Daniela: 2 articles (05/2015 - 03/2012)|
|10.||Ljunggren, Hans-Gustaf: 2 articles (04/2010 - 11/2009)|
|1.||Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome)
06/01/2015 - "Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)."
03/05/2015 - "Familial hemophagocytic lymphohistiocytosis (F-HLH) and Griscelli syndrome type 2 (GS) are life-threatening immunodeficiencies characterized by impaired cytotoxic T lymphocyte (CTL) and natural killer (NK) cell lytic activity. "
07/01/2013 - "[A hemophagocytic syndrome revealing a Griscelli syndrome type 2]."
11/05/2009 - "The autosomal recessive immunodeficiencies Griscelli syndrome type 2 (GS2) and familial hemophagocytic lymphohistiocytosis type 3 (FHL3) are associated with loss-of-function mutations in RAB27A (encoding Rab27a) and UNC13D (encoding Munc13-4). "
02/01/2009 - "Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are diseases that all may develop hemophagocytic syndromes. "
|2.||Piebaldism (Partial Albinism)
05/01/2015 - "Griscelli syndrome type 2 is a rare primary immunodeficiency state with characteristic silvery hair, partial albinism, and immunological abnormalities. "
01/01/2014 - "Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. "
08/01/2013 - "Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). "
09/01/2010 - "We identified a Hispanic patient born of a consanguineous union who presented with immunodeficiency, partial albinism, hepatic dysfunction, hemophagocytosis, neurological impairment, nystagmus, and silvery hair indicative of Griscelli Syndrome Type 2 (GS2). "
06/01/2010 - "Human Griscelli syndrome type 2 (GS-2) is characterized by partial albinism and a severe immunologic disorder as a result of RAB27A mutations. "
01/01/2010 - "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. "
12/01/2011 - "Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH). "
|4.||Immune System Diseases (Immune Disorders)
11/01/2008 - "Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and is a rare and potentially fatal immune disorder associated with hemophagocytic lymphohistiocytosis (HLH). "
07/02/2009 - "Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for Griscelli syndrome type 2, an inherited immune disorder causing fatal hemophagocytic lymphohistiocytosis (HLH). "
03/22/2012 - "Seventy-five of 77 patients (97%) with FHL3-5 and 11 of 13 patients (85%) with Griscelli syndrome type 2 or Chediak-Higashi syndrome had abnormal resting NK-cell degranulation. "
08/01/2006 - "Defect in the granule dependent cytotoxic function of lymphocytes result from perforin mutation in familial hemophagocytic lymphohistiocytosis type 2, from Munc13-4 (UNC13D) mutation in familial hemophagocytic lymphohistiocytosis type 3, from Rab27a mutation in Griscelli syndrome type 2, and from CHS/LYST mutation in Chediak-Higashi syndrome. "
|2.||Proteins (Proteins, Gene)
|3.||Creatine Kinase (Creatine Phosphokinase)
|4.||glucuronyl glucosamine glycan sulfate (Vessel)
|1.||Hematopoietic Stem Cell Transplantation