CD48

CD48 molecule
OMIM: 109530, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list CD48 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.99
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Hemophagocytic lymphohistiocytosis
  • Urticaria
  • Hives
  • Inflammation
  • Fever
  • Hepatosplenomegaly