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1.
J Eur Acad Dermatol Venereol ; 37(6): 1207-1214, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36802102

ABSTRACT

BACKGROUND: Adverse pregnancy outcomes (APO) occur in 35% of patients with pemphigoid gestationis (PG). No biological predictor of APO has been established yet. OBJECTIVES: To assess a potential relationship between the occurrence of APO and the serum value of anti-BP180 antibodies at the time of PG diagnosis. METHODS: Multicentre retrospective study conducted from January 2009 to December 2019 in 35 secondary and tertiary care centres. INCLUSION CRITERIA: (i) diagnosis of PG according to clinical, histological and immunological criteria, (ii) ELISA measurement of anti-BP180 IgG antibodies determined at the time of PG diagnosis with the same commercial kit and (iii) obstetrical data available. RESULTS: Of the 95 patients with PG included, 42 had one or more APO, which mainly corresponded to preterm birth (n = 26), intrauterine growth restriction (IUGR) (n = 18) and small weight for gestational age at birth (n = 16). From a ROC curve, we identified a threshold of 150 IU ELISA value as the most discriminating to differentiate between patients with or without IUGR, with 78% sensitivity, 55% specificity, 30% positive and 91% negative predictive value. The threshold >150 IU was confirmed using a cross-validation based on bootstrap resampling, which showed that the median threshold was 159 IU. Upon adjusting for oral corticosteroid intake and main clinical predictors of APO, an ELISA value of >150 IU was associated with the occurrence of IUGR (OR = 5.11; 95% CI: 1.48-22.30; p = 0.016) but not with any other APO. The combination of blisters and ELISA values higher than 150 IU led to a 2.4-fold higher risk of all-cause APO (OR: 10.90; 95% CI: 2.33-82.3) relative to patients with blisters but lower values of anti-BP180 antibodies (OR of 4.54; 95% CI 0.92-34.2). CONCLUSION: These findings suggest that anti-BP180 antibody ELISA value in combination with clinical markers is helpful in managing the risk of APO, in particular IUGR, in patients with PG.


Subject(s)
Pemphigoid Gestationis , Pemphigoid, Bullous , Premature Birth , Pregnancy , Female , Humans , Infant, Newborn , Pemphigoid Gestationis/diagnosis , Retrospective Studies , Pemphigoid, Bullous/diagnosis , Blister , Pregnancy Outcome , Non-Fibrillar Collagens , Enzyme-Linked Immunosorbent Assay , Immunoglobulin G , Autoantigens , Autoantibodies
2.
Rheumatology (Oxford) ; 60(12): 5863-5867, 2021 12 01.
Article in English | MEDLINE | ID: mdl-33764396

ABSTRACT

OBJECTIVE: To deep sequence the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1γ autoantibody-positive dermatomyositis (DM) as TRIM33 somatic mutations in tumours may trigger this auto-immune disease. METHODS: Next generation sequencing of tumour DNA samples from patients with cancer-associated anti-TIF1γ autoantibody-positive DM. Fourteen tumours from 13 anti-TIF1γ autoantibody-positive DM individuals were sequenced along with two control tumours from non-DM individuals. RESULTS: Fourteen probable somatic variants from four tumours were identified in the TRIM33 gene. CONCLUSION: These results are in accordance with the previous report of Pinal-Fernandez et al. and support the hypothesis of a role of TRIM33 gene mutations in the pathophysiology of anti-TIF1γ autoantibody-positive DM.


Subject(s)
DNA/genetics , Dermatomyositis/genetics , High-Throughput Nucleotide Sequencing/methods , Mutation , Neoplasms/complications , Transcription Factors/genetics , Aged , DNA Mutational Analysis , Dermatomyositis/etiology , Dermatomyositis/metabolism , Female , Humans , Male , Transcription Factors/metabolism , Zinc Fingers
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