HLA-A*31:01 and carbamazepine-induced DRESS syndrom in a sample of North African population

Ksouda, Kamilia; Affes, Hanen; Mahfoudh, N.; Chtourou, L.; Kammoun, A.; Charfi, A.; Chaabane, H.; Medhioub, Mounir; Sahnoun, Zouheir; Turki, H.; Tahri, N.; Hammami, S.; Zeghal, Khaled Mounir

doi:10.1016/j.seizure.2017.10.018

Cited by 23 publications

(20 citation statements)

References 43 publications

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“…Nevertheless, hypogammaglobulinaemia is often related to DRESS syndrome. 4,5 However, our patient had no history of recurrent infection or atopy, and the serum IgA level was within the normal range.…”

Section: T H E D I a G N O S I S O F H L H C A U S E D B Ymentioning

confidence: 66%

“…1,2 Our patient had six of the criteria, with a severe clinical course accompanied by fever, bicytopenia, edema, and hepatosplenomegaly, with laboratory findings of hemophagocytosis, hypofibrinogenaemia, hypertriglyceridaemia, and a high ferritin level. There was no similar family history 4 . Oxcarbazepine (OXC) is a 10-keto analogue of carbamazepine (CBZ), but there are important differences between the two drugs.…”

Section: T H E D I a G N O S I S O F H L H C A U S E D B Ymentioning

confidence: 97%

“…Consequently, OXC is safer than CBZ and better tolerated. According to the Food and Drug Administration (FDA), in the normal population, side-effects related to severe systemic drug reactions induced by OXC occur in 0.5-6/1,000,000 people per year [3][4][5] . To our knowledge, this case is the first report of HLH due to OXC.…”

Section: T H E D I a G N O S I S O F H L H C A U S E D B Ymentioning

confidence: 99%

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Hemophagocytic lymphohistiocytosis associated with oxcarbazepine

Kırık¹,

Güneş²,

Yurttutan³

et al. 2019

Turk J Pediatr

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Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening multisystem disorder. Reports of the disorder as a side effect of drugs are extremely rare. We report the case of a 3-year-old boy with a history of epileptic seizures in which oxcarbazepine was added to treatment for the last 35 days and dose had been increased. For 10 days he had a fever, hepatosplenomegaly, rash, edema and other systemic symptoms. He was diagnosed with HLH after bone marrow examination. Oxcarbazepine treatment was terminated after the intravenous immunoglobulin treatment. The next day, clinical and laboratory results had improved. This is the first HLH report of an association with oxcarbazepine. Bone marrow aspiration may be indicated to confirm the diagnosis when facing a patient with systemic symptoms after newly added antiepileptic drug treatment.

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Section: T H E D I a G N O S I S O F H L H C A U S E D B Ymentioning

confidence: 66%

Section: T H E D I a G N O S I S O F H L H C A U S E D B Ymentioning

confidence: 97%

Section: T H E D I a G N O S I S O F H L H C A U S E D B Ymentioning

confidence: 99%

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Hemophagocytic lymphohistiocytosis associated with oxcarbazepine

Kırık¹,

Güneş²,

Yurttutan³

et al. 2019

Turk J Pediatr

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“…Of these 136 studies, 31 were excluded, leaving 105 studies eligible for the systematic review (Figure and Table ). Among the 105 studies (5554 cases and 123 548 controls) included in the systematic review on genetic predictors potentially associated with T cell–mediated hypersensitivity to drugs, 52 were related to carbamazepine (CBZ) (n = 31) (Table ) or other aromatic antiepileptic drugs (n = 24, three studies also addressed CBZ) (Table ) . Other studies reported genetic predictors potentially associated with T cell–mediated hypersensitivity to abacavir (ABC) (n = 11) (Table…”

Section: Resultsmentioning

confidence: 99%

“…Several genetic predictors for T cell–mediated hypersensitivity reactions to CBZ have been reported and include TNF2 , HLA‐DR3 , HLA‐DQ2 , HSP70 , HLA‐B*15:02 , HLA‐A*31:01 , HLA‐B*59:01 , HLA‐B*15:11 , HLA‐A*24:02 , HLA‐B*40:01 , HLA‐B*51:01 , and EPHX1 c.337T > C (Table ).…”

Section: Resultsmentioning

confidence: 99%

Genetic variants associated with T cell–mediated cutaneous adverse drug reactions: A PRISMA‐compliant systematic review—An EAACI position paper

Oussalah

Yip

Mayorga

et al. 2020

Allergy

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Abderrahim Oussalah and Vincent Yip First authors share an equal contribution.Jean-Louis Guéant and Munir Pirmohamed Senior authors share an equal contribution. AbstractDrug hypersensitivity reactions (DHRs) are associated with high global morbidity and mortality. Cutaneous T cell-mediated reactions classically occur more than 6 hours after drug administration and include life-threatening conditions such as toxic epidermal necrolysis, Stevens-Johnson syndrome, and hypersensitivity syndrome. Over the last 20 years, significant advances have been made in our understanding of the pathogenesis of DHRs with the identification of human leukocyte antigens as predisposing factors. This has led to the development of pharmacogenetic screening tests, such as HLA-B*57:01 in abacavir therapy, which has successfully reduced the incidence of abacavir hypersensitivity reactions. We have completed a PRISMAcompliant systematic review to identify genetic associations that have been reported in DHRs. In total, 105 studies (5554 cases and 123 548 controls) have been included in the review reporting genetic associations with carbamazepine (n = 31), other aromatic antiepileptic drugs (n = 24), abacavir (n = 11), nevirapine (n = 14), trimethoprim-sulfamethoxazole (n = 11), dapsone (n = 4), allopurinol (n = 10), and other drugs (n = 5). The most commonly reported genetic variants associated with DHRs are located in human leukocyte antigen genes and genes involved in drug metabolism pathways. Increasing our understanding of genetic variants that contribute to DHRs will allow us to improve diagnosis, develop new treatments, and predict and prevent DHRs in the future. K E Y W O R D Scutaneous adverse drug reactions, genetic variants, human leukocyte antigen genes, systematic review, T cell-mediated drug hypersensitivity reactions | 1071 OUSSALAH et AL. | MATERIAL S AND ME THODS | Electronic search queryThe literature search was conducted using MEDLINE ® -indexed literature using the PubMed search engine from the National Center for Biotechnology Information (www.pubmed.gov) (January 1966 to April 2019), Embase ® , and ISI Web of Knowledge using the full electronic search strategies detailed in the Appendix S1. Additional articles were retrieved from primary search references. The present systematic review was performed in accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement. 12 | Eligibility criteriaA study was considered eligible for the systematic review if it had investigated the association between any genetic variant and any T cell-mediated hypersensitivity reaction to drugs affecting the skin.Both candidate gene and genome-wide association study (GWAS) approaches were eligible for the systematic review. The exclusion criteria were as follows: non-English-language publication; meeting abstracts; case reports; review papers; comparison or assessment of genotyping methods; experimental mechanistic studies; no genetic association study between any genetic variant and any T cell-media...

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Translational Pharmacogenomics: Discovery, Evidence Synthesis and Delivery of Race‐Conscious Medicine

Davis

Limdi

2021

Clin Pharma and Therapeutics

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Response to medications, the principal treatment modality for acute and chronic diseases, is highly variable, with 40–70% of patients exhibiting lack of efficacy or adverse drug reactions. With ~ 15–30% of this variability explained by genetic variants, pharmacogenomics has become a valuable tool in our armamentarium for optimizing treatments and is poised to play an increasing role in clinical care. This review presents the progress made toward elucidating genetic underpinnings of drug response including discovery of race/ancestry‐specific pharmacogenetic variants and discusses the current evidence and evidence framework for actionability. The review is framed in the context of changing demographics and evolving views related to race and ancestry. Finally, it highlights the vital role played by cohort studies in elucidating genetic differences in drug response across race and ancestry and the informal collaborations that have enabled the field to bridge the “bench to bedside” translational gap.

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HLA-A*31:01 and carbamazepine-induced DRESS syndrom in a sample of North African population

Cited by 23 publications

References 43 publications

Hemophagocytic lymphohistiocytosis associated with oxcarbazepine

Hemophagocytic lymphohistiocytosis associated with oxcarbazepine

Genetic variants associated with T cell–mediated cutaneous adverse drug reactions: A PRISMA‐compliant systematic review—An EAACI position paper

Translational Pharmacogenomics: Discovery, Evidence Synthesis and Delivery of Race‐Conscious Medicine

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