Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism

Pediatr Blood Cancer. 2020 Aug;67(8):e28312. doi: 10.1002/pbc.28312. Epub 2020 May 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Autografts
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / diagnostic imaging
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Lymphohistiocytosis, Hemophagocytic* / pathology
  • Lymphoma, Large B-Cell, Diffuse / diagnosis
  • Lymphoma, Large B-Cell, Diffuse / pathology
  • Lymphoma, Large B-Cell, Diffuse / therapy
  • Male
  • Piebaldism* / diagnostic imaging
  • Piebaldism* / genetics
  • Piebaldism* / pathology
  • Primary Immunodeficiency Diseases* / diagnostic imaging
  • Primary Immunodeficiency Diseases* / genetics
  • Primary Immunodeficiency Diseases* / pathology
  • rab27 GTP-Binding Proteins / genetics*

Substances

  • rab27 GTP-Binding Proteins
  • RAB27A protein, human

Supplementary concepts

  • Griscelli syndrome type 2