Détection d’anticorps antidesmogléines circulants chez un patient atteint de maladie de Hailey-Hailey

Bennani, Imane; Ofaiche, J.; Uthurriague, C.; Fortenfant, Françoise; Lamant, Laurence; Nougué, J

doi:10.1016/j.annder.2012.05.025

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…However, one HHD patient had linear deposition of C3 along the dermoepidermal junction ( Gu et al, 1999 ). Anti-desmoglein and anti-desmocollin antibodies are found in sera of two cases of HHD patients ( Bennani et al, 2012 ; Ueo et al, 2015 ). Moreover, fixed and soluble immune complexes are present in the epidermis of patients ( Makhneva and Beletskaya, 2007 ).…”

Section: Discussionmentioning

confidence: 98%

Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene

Dai

Wang

et al. 2021

Front. Genet.

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Hailey–Hailey disease (HHD) is a rare autosomal-dominant blistering disorder characterized by recurrent vesicular and erosive lesions at intertriginous sites. We described a 24-year-old male who presented with multiple bright red verrucous papules in his mons pubis, bilateral groins, scrotum, perineum, and crissum, clinically resembling condyloma acuminatum. The histopathology showed extensive acantholysis with the characteristic appearance of a dilapidated brick-wall. The mutation analysis revealed a novel splice-site mutation in the ATP2C1 gene. The patient was definitely diagnosed with HHD. The antibacterial treatments resulted in a dramatic improvement. Our findings help to broaden the understanding of clinical manifestations of HHD and improve the clinical diagnosis and treatment of this disease.

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Section: Discussionmentioning

confidence: 98%

Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene

Dai

Wang

et al. 2021

Front. Genet.

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“…1 As non-Dsg antibodies, anti-ATP2C1 AuAbs are likely also involved in the pathogenesis of pemphigus. Although patients with HHD have also been reported to have AuAbs, such as desmocollin 1, desmocollin 2, 11 and Dsg antibody, 12 these AuAbs may be caused by the capture of Dsg protein by an antigen-presenting cell in the epidermis of patients with HHD. Therefore, the presence of these antibodies may be a result of HHD rather than a cause of comorbidity.…”

Section: Discussionmentioning

confidence: 99%

Effects of Pemphigus Vulgaris Serum on the Expression of ATP2C1 and PKP3 in HaCaT Cells

Pan

Xie

Dai

et al. 2021

Int J Dermatol Venereol

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Objective:To investigate the effects of serum from patients with pemphigus vulgaris (PV) on the transcription and protein expression level of calcium-transporting ATPase type 2C member 1 (ATP2C1) and plakophilin 3 (PKP3) in HaCaT cells.Methods:The HaCaT cells were divided into four groups: PV sera group, anti-Dsg3 monoclonal antibody group (AK23, positive control group), normal healthy serum group, and blank cell group. The groups were treated with corresponding different conditions for 24 hours. Quantitative polymerase chain reaction and Western blot were used to detect mRNA and protein levels of ATP2C1 and PKP3.Results:Compared with the blank group, the mRNA level of the ATP2C1 and PKP3 genes in PV sera group was significantly increased by 384% and 404%, respectively (both P < 0.001). The treatment of PV sera and anti-Dsg3 antibody increased PKP3 protein expression (P = 0.03 and P = 0.004) but decreased protein expression of ATP2C1 in HaCaT cells (both P < 0.001).Conclusions:Our study indicates that serum from patients with PV promotes both ATP2C1 and PKP3 transcription in HaCaT cells, implying that the two genes may be involved in the pathological process of PV.

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Desmocollin-specific antibodies in a patient with Hailey-Hailey disease

Ueo¹,

Ishii

Hamada

et al. 2015

Br J Dermatol

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Détection d’anticorps antidesmogléines circulants chez un patient atteint de maladie de Hailey-Hailey

Cited by 3 publications

References 14 publications

Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene

Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene

Effects of Pemphigus Vulgaris Serum on the Expression of ATP2C1 and PKP3 in HaCaT Cells

Desmocollin-specific antibodies in a patient with Hailey-Hailey disease

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