The Journal of Clinical Immunology: An international Journal for Primary Immunodeficiencies and Related Human Immunologic Diseases

Abstract

We have taken the reins of the Journal of Clinical Immunology (JoCI), which was founded by Sudhir Gupta in 1981 following a suggestion from Henry Kunkel to develop a Journal that would focus on human clinical immunology, and has been the official publication of the Clinical Immunology Society (CIS) since 2011. The Journal has continued to evolve under the successive leadership of editors-in-chief and deputy editors who worked in the field of primary immunodeficiency disease (PID). We succeed Dr. Thomas Fleisher, Editor in Chief, and Kathleen Sullivan Deputy Editor emeriti (2011–2012) who both focus their research efforts on PID which has always been an important focus of the Journal . In this historical context, what is our agenda for the journal? It is our intent to further focus the Journal on studies related to human immunology that are based on single-gene inborn errors of immunity, another designation for PIDs. We take this concept of monogenic inborn errors of immunity in the broadest sense, to include such errors that can underlie highly diverse phenotypes, including a variety of infections, tumors, autoimmunity, and allergy, as recognized in the 1950s and 1960s, but also hemophagocytosis, alveolar proteinosis, autoinflammation, granulomas, microangiopathies, macular degeneration and many others that have been recognized more recently. We have come to realize in recent years that the range of phenotypes caused by PIDs is much broader than that initially thought to be the case in the 1950s. We will increase our focus on monogenic PIDs while being aware that these disorders may not necessarily be Mendelian, with full clinical penetrance. Accordingly, the investigation of single-gene defects with incomplete penetrance will be encouraged in the Journal , as this is certainly a new frontier in the field. We will also give particular attention to the “phenocopies” of PIDs, such as those caused by somatic mutations and autoantibodies. For example, somatic mutations in Fas can cause clinical manifestations almost indistinguishable from germ-line mutations in the same gene, with autoimmune lymphoproliferation. Likewise, autoantibodies against GMCSF and germ-line mutations in the GM-CSF receptor can both cause alveolar proteinosis. These two examples illustrate both the enhanced focus and breadth of the Journal that will occur during our tenure as Editor in Chief and Deputy Editor. We will favor clinical investigations, typically, but not necessarily, conducted in human patients or with human samples. We will encourage high impact submissions that will advance the field of PIDs and their phenocopies. We will also consider other cutting edge manuscripts related to immunological-based human clinical diseases, as some of these could in the future turn out to be the result of yet V. R. Bonagura (*) Laboratory of Host Defense, The Feinstein Institute for Medical Genetics, Hofstra NS-LIJ School ofMedicine, Hempstead, NY, USA e-mail: VBonagura@NSHS.edu