Dermatology Consultation Service

咨询服务人员包括我本人、约翰·迪乔凡纳博士和一位执业护士奥兰达·海瑟薇（Olanda Hathaway），她于2011年加入该部门。如上所述，在皮肤疾病的评估和管理方面提供临床专业知识是NIH社区高度重视的服务，并在2007年获得了NIH主任奖的认可。除了会诊患者外，我还是其他分支发起的其他几个方案的副研究员，以及三个治疗方案的首席研究员（将单独讨论）。目前我是副研究员的非皮肤病学分支方案包括GVHD的自然史；恶性淋巴瘤/白血病的低强度移植；免疫消耗疗法和非亲属供体低强度移植；异体移植治疗DOCK8免疫缺陷波马度胺治疗慢性GVHD；孟鲁司特II期治疗闭塞性细支气管炎；厄洛替尼和贝伐单抗治疗肾细胞癌；自身炎性疾病的自然史；阿那金用于治疗白塞氏病；利洛那接受治疗IL-1拮抗剂缺乏。慢性移植物抗宿主病（GVHD）合作是一项主要的多学科合作，由几位NCI和非NCI研究人员研究GVHD的自然史。基于我在这个小组的经验，我已经发表了几篇关于皮肤GVHD的文本章节和临床手稿，并荣幸地在全国各地的各种团体（哈佛大学，塔夫茨大学，宾夕法尼亚大学，美国皮肤病学会，区域皮肤病学会和世界皮肤病大会）演讲。通过繁忙的咨询服务，协作临床研究非常活跃。在几种周期性发热综合征患者中新发现的pyrin基因突变，以及对由此产生的自身炎症性疾病有效的生物疗法的可用性，将一组新的患者引入了临床。我们目前正在系统地描述PAPA综合征、Behcets和IL-1受体拮抗剂（DIRA）缺乏患者的皮肤表现，并评估对治疗的反应。我目前是两个开放治疗方案的首席研究员：用于治疗硬化性慢性GVHD的甲氨替尼（08-C-0148）和用于治疗中性粒细胞脓疱性皮肤病的阿那金（13-C-0071；招募中）。

The Consult Service Staff consists of myself, Dr. John DiGiovanna, and a Nurse Practitioner, Olanda Hathaway, who joined the Branch in 2011. As mentioned above, providing clinical expertise in the assessment and management of the cutaneous disease is a highly valued service to the NIH community which was recognized by the NIH Director's Award in 2007. In addition to seeing patients in Consultation, I am an Associate Investigator on several other protocols initiated by other branches as well as a Principal Investigator on three therapeutic protocols (to be discussed separately). The current non-Dermatology Branch protocols in which I am an Associate Investigator include Natural History of GVHD; Reduced intensity transplants for malignant lymphomas/leukemias; Immune-depleting therapy and reduced intensity transplant using unrelated donors; Allogeneic transplant for DOCK8 Immunodeficiency; Pomalidomide for chronic GVHD; Phase II Montelukast for bronchiolitis obliterans; Erlotinib and bevacizumab for renal cell carcinoma; Natural history of auto-inflammatory diseases; Anakinra for Behcet's disease; Rilonacept for deficiency of the IL-1 antagonist. The chronic graft versus host disease (GVHD) collaborative effort is a major multidisciplinary collaboration with several NCI and non-NCI investigators studying the Natural history of GVHD. Based on my experience with this group, I have published several text chapters and clinical manuscripts on cutaneous GVHD and have been honored to lecture to various groups around the country (Harvard, Tufts, U. of Pennsylvania, the American Academy of Dermatology, regional dermatologic societies, and the World Congress of Dermatology.) Collaborative clinical research is extremely active via the busy consultation service. The newly discovered mutations in pyrin genes in patients with several periodic fever syndromes, and the availability of biologic therapies that have efficacy in the resulting autoinflammatory diseases have introduced a new group of patients to the clinic. We are now systematically characterizing cutaneous manifestations and assessing responses to treatment in patients with PAPA syndrome, Behcets and deficiency of IL-1 receptor antagonist (DIRA). I am currently Principal Investigator on two open therapeutic protocols: imatinib mesylate (08-C-0148) for the treatment of sclerotic chronic GVHD (data analysis only), and anakinra for neutrophilic pustular skin disease (13-C-0071; recruiting).