has material basis in germline mutation in RAB27A Griscelli syndrome type 2 https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 https://www.malacards.org/card/griscelli_syndrome_type_2_2 NANDO:2200732 OMIM:607624 Griscelli syndrome, type 2 Orphanet:79477 Griscelli-PruniC)ras syndrome type 2 Griscelli syndrome with hemophagocytic syndrome MEDGEN:357030 Griscelli syndrome type 2 partial albinism and immunodeficiency syndrome UMLS:C1868679 Griscelli-Pruniéras syndrome type 2 GARD:0004483 Griscelli-Pruni��ras syndrome type 2 NCIT:C111814 MONDO:0011872 hypopigmentation-immunodeficiency with or without neurologic impairment syndrome DOID:0060833 MESH:C537302 GS2 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. icd11.foundation:1836541365 PAID syndrome constitutional neutropenia hereditary hemophagocytic lymphohistiocytosis Griscelli syndrome