COL17A1

Last update 08 May 2025

Basic Info

Synonyms

120 kDa linear IgA dermatosis antigen, 120 kDa linear IgA disease antigen, 180 kDa bullous pemphigoid antigen 2

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Introduction

May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane. The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

100 Clinical Results associated with COL17A1

100 Translational Medicine associated with COL17A1

0 Patents (Medical) associated with COL17A1

1,197

Literatures (Medical) associated with COL17A1

03 Apr 2025·Expert Review of Clinical Immunology

Diagnostic methods and strategies for autoimmune bullous diseases

Review

Author: Li, Xiaoguang ; Nakama, Takekuni ; Ishii, Norito ; Tsuruta, Daisuke ; Teye, Kwesi ; Tsuchisaka, Atsunari ; Mine, Mako ; Hashimoto, Takashi ; Qian, Hua ; Tateishi, Chiharu ; Koga, Hiroshi ; Hirako, Yoshiaki

INTRODUCTIONAutoimmune bullous disease (AIBD), showing blistering lesions on the skin and/or mucous membranes, is characterized by autoantibodies against various structural molecules present in keratinocyte cell surfaces and epidermal basement membrane zone. In addition to the clinical and pathological features, identification of specific autoantibodies is essential for AIBD diagnosis, and therefore corresponding methods should be well summarized and popularized.AREA COVEREDCurrently, direct immunofluorescence using biopsy tissue specimen and indirect immunofluorescence using normal human skin, 1 M NaCl-split skin and rat bladder are primarily used to identify tissue-bound and circulating autoantibodies, respectively. Immunoblotting and enzyme-linked immunosorbent assay (ELISA) methods have been developed for detection of autoantibodies against AIBD autoantigens, including desmoglein 1, desmoglein 3, BP180, BP230, type VII collagen, laminin (LM) 332, integrin α6β4, p200 (LMγ1/LMβ4) and human serum albumin. In this review, we summarized the detailed laboratory protocols for AIBD diagnosis methods used in our three institutes (Kurume University and Osaka Metropolitan University in Japan, and Daqing Oilfield General Hospital in China) before 9 October 2024.EXPERT OPINIONThis review will benefit both clinical practitioners and basic researchers on AIBD. In the future, simpler and easier AIBD diagnostic algorithms using a smaller number of tests should be established.

01 Apr 2025·JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Research in practice: Immune checkpoint inhibitor related autoimmune bullous dermatosis

Review

Author: Sadik, Christian D. ; Pruessmann, Jasper N. ; Pruessmann, Wiebke

SummaryImmune checkpoint receptors and ligands such as cytotoxic T lymphocyte antigen‐4 (CTLA‐4), programmed death‐1 (PD‐1) and ligand‐1 (PD‐L1) are widely expressed on immune and non‐immune cells and fine tune the activation level of immune cells, thus, enabling, preventing, or terminating immune responses. Blockade of CTLA‐4, PD‐1 or PD‐L1 by checkpoint inhibitors (CIs), unleashing immune responses, has become a mainstay in the treatment of diverse types of cancer. The induction of autoinflammatory, yet unspecific tissue damage in diverse organs is called an immune related adverse event (irAE), a class side‐effect of CIs and may require the discontinuation of immunotherapy. Among frequent skin rashes, CIs targeting the PD‐L1/PD‐1 axis can elicit the IgG autoantibody‐ and granulocyte‐driven bullous pemphigoid (BP) in about 0.3% to 0.6% of treated patients. Pathogenesis of BP requires a complex cellular inflammatory response after anti‐BP180 autoantibody binding to the dermal epidermal junction. The prevalence of autoantibodies against BP180 in healthy blood donors of approximately 0.52% equals the prevalence of irBP among treated cancer patients, underlining the potential relevance of the PD‐1 mediated regulation of tissue inflammation for spontaneous BP. If skin rashes appear during CI therapy, biopsies should be taken and examined by histopathological and direct immunofluorescence microscopy.

01 Apr 2025·Actas Dermo-Sifiliográficas

Unraveling the link between bullous pemphigoid and neurological disease: a single-center study of 257 patients

Article

Author: Nieto-Benito, L M ; Suárez-Fernández, Ricardo

BACKGROUNDMultiple studies have corroborated the association between bullous pemphigoid (BP) and neurological diseases; patients with both diseases (BP-N) have been associated with a worse prognosis and specific clinical and immunological characteristics, defining a different subtype of BP.OBJECTIVESwe aimed to determine the prevalence and characteristics of BP cases with neurological comorbidities (BP-N) and review the related published literature.METHODSWe conducted a retrospective, observational study of BP cases treated at a referral center for autoimmune blistering diseases from January 2000 through June 2020.RESULTSWe collected epidemiological, clinical, histopathological, progression and laboratory data from a total of 257 cases, 102 of which were BP-N. Senile dementia, Alzheimer's disease and vascular dementia were the most frequent neurological comorbidities. Compared with cases without neurological comorbidities, BP-N cases had more intense tissue eosinophilia (p = 0.012) and higher concentrations of circulating eosinophils (p = 0.000), and anti-BP180 IgG antibodies (p = 0.007). At the time of data collection, 78 BP-N were deceased.CONCLUSIONSOur case series highlighted the relevance of neurological comorbidities in BP patients; although the pathogenesis is still to be elucidated, the neuroinflammation present in neurodegenerative diseases could explain the neurocutaneous link and the chronological relationship between these entities.

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COL17A1

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