Publications by authors named "K T Amber"

: Ocular predominant mucous membrane pemphigoid (oMMP) is a severe subtype of autoimmune blistering disease (AIBD), which can result in scarring and vision loss. The diagnosis of oMMP is challenging as patients often have undetectable levels of circulating autoantibodies by conventional assays. Likewise, the principal autoantigen in oMMP has been an area of debate.

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Unlabelled: While autoantibodies in bullous pemphigoid (BP) are known to activate the innate immune response, their direct effect on keratinocytes, and the contribution of BP-IgG autoantibody-dependent keratinocyte responses to BP pathology is largely unknown. Herein, we performed multiplex immunoassays and bulk RNA-seq on primary keratinocytes treated with IgG from BP patients or controls. We identified a pro-inflammatory and proteolytic response with release of several cytokines (IL-6, IL-24, TGF-β1), chemokines (CXCL16, CTACK, MIP-3β, RANTES), C1s, DPP4, and MMP-9.

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A 57-year-old woman on leflunomide with a history of chronic obstructive pulmonary disease and rheumatoid arthritis presented with multiple flesh-colored to hyperpigmented dome-shaped papules, scattered comedones, and underlying scarring on bilateral cheeks and chin. These dermatologic manifestations, laboratory evaluation, and punch biopsy led to a final diagnosis of acneiform or comedonal discoid lupus erythematosus (ACDLE). For patients with acneiform or comedonal lesions, ACDLE should be considered if the lesions do not improve with conventional treatment for acne vulgaris.

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Article Synopsis
  • Ocular predominant mucous membrane pemphigoid (oMMP) is a severe condition that can lead to scarring and blindness; diagnosing it is challenging due to a high false-negative rate (up to 40%) in conjunctival biopsies that use direct immunofluorescence (DIF).
  • Serologic testing offers a less invasive diagnostic method but often shows low levels of autoantibodies in oMMP patients, making it less reliable.
  • The autoantigens involved, like integrin β4 and BP180, have shown mixed results in their specificity for diagnosing oMMP, prompting a need for better understanding and improvement in serological diagnostic approaches.
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