Name: Gray platelet syndrome with/without autoimmunity | Acronym: GPS
Alt. names: Gray platelet syndrome and autoimmunity | NBEAL2 deficiency

Gene: NBEAL2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2011

Last updated on: 2023-02-28 16:41:18 by

OMIM: 139090

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Condition first described by Gunay-Aygun et al. (2011, PMID:21765412) and it features mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients develop a stable myelofibrosis, while some others may develop autoimmune lymphoproliferative syndrome, EBV reactivation or MAS (PMID:37349339).

Description of management option has not been reviewed yet.