Disorders of immune dysregulation
Gene: NBEAL2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gray platelet syndrome, MIM# 139090
Patients with NBEAL2 deficiency present with ALPS-like disease with autoimmune manifestations including Evans syndrome, chill blain lupus, autoimmune thyroiditis, and/or antiplatelet autoantibodies. Functional data demonstrating that NBEAL2 affects CTLA4 expression regulation.
Sources: LiteratureCreated: 26 Jul 2024, 4:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation
Publications
Gene: nbeal2 has been classified as Green List (High Evidence).
Phenotypes for gene: NBEAL2 were changed from Immune dysregulation to Gray platelet syndrome, MIM# 139090; Immune dysregulation
Gene: nbeal2 has been classified as Green List (High Evidence).
gene: NBEAL2 was added gene: NBEAL2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBEAL2 were set to PMID: 37349339 Phenotypes for gene: NBEAL2 were set to Immune dysregulation Review for gene: NBEAL2 was set to GREEN