Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure

Pediatr Hematol Oncol. 2021 Sep;38(6):593-601. doi: 10.1080/08880018.2021.1895925. Epub 2021 Apr 1.
No abstract available

Publication types

  • Letter

MeSH terms

  • Delayed Diagnosis
  • Heterozygote
  • Humans
  • Immunologic Deficiency Syndromes* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Mutation
  • Piebaldism* / diagnosis
  • Primary Immunodeficiency Diseases
  • rab27 GTP-Binding Proteins / genetics

Substances

  • rab27 GTP-Binding Proteins
  • RAB27A protein, human

Supplementary concepts

  • Griscelli syndrome type 2