title: The HLA-B*15:02 allele in a Spanish Romani patient with carbamazepine-induced Stevens-Johnson syndrome.
abstract: The HLA-B*15:02 allele is a risk factor for carbamazepine (CBZ)-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in populations where the allele is prevalent. Han Chinese and Thai patients are advised to take a genetic test before introducing CBZ. Such testing is not recommended for patients of European descent. We report the case of a Spanish Romani patient who developed Stevens-Johnson syndrome upon treatment with CBZ. In vitro assays confirmed CBZ as the culprit drug. HLA typing showed that the patient carried the HLA-B*15:02 allele. A public database search revealed that 2% of Spanish Romani people likely carry the risk variant HLA-B*15:02 and therefore may be included in the population to be tested prior to beginning treatment with CBZ.
authors.affiliation: Institute for Health Research, University Hospital La Paz - IdiPAZ, Madrid, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Bellón
authors.affiliation: Clinical Pharmacology Department, University Hospital La Paz, Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Ramírez
authors.affiliation: Clinical Pharmacology Department, University Hospital La Paz, Madrid, Spain.
authors.forename: Alberto M
authors.initials: AM
authors.lastname: Borobia
authors.affiliation: Clinical Pharmacology Unit, University Hospital Príncipe de Asturias, Alcalá de Henares, Madrid, Spain.
authors.forename: Victoria
authors.initials: V
authors.lastname: Lerma
authors.affiliation: Immunology Department, University Hospital Ramón y Cajal, Madrid, Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Hidalgo
authors.affiliation: Foundation for Biomedical Research, University Hospital de Getafe, Getafe, Madrid, Spain.
authors.forename: Olga
authors.initials: O
authors.lastname: Laosa
authors.affiliation: Pathology Department, University Hospital de Getafe, Getafe, Madrid, Spain.
authors.forename: José A
authors.initials: JA
authors.lastname: Aramburu
authors.affiliation: Dermatology Department, University Hospital de Getafe, Getafe, Madrid, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: González-Herrada
authors.affiliation: Clinical Pharmacology Unit, University Hospital Príncipe de Asturias, Alcalá de Henares, Madrid, Spain.|Department of Biomedical Sciences (Pharmacology), University of Alcalá, Alcalá de Henares, Madrid, Spain.
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: de Abajo
mesh_terms: D000293:Adolescent; D000483:Alleles; D002220:Carbamazepine / Q000009:adverse effects*; D015235:HLA-B Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D012307:Risk Factors; D013262:Stevens-Johnson Syndrome / Q000209:etiology / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D015235:HLA-B Antigens; D002220:Carbamazepine
keywords: HLA testing; HLA-B*15:02; Romani people; Stevens–Johnson syndrome/toxic epidermal necrolysis; carbamazepine