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Advances in Primary Immunodeficiencies: Challenges in Biology, Diagnosis, Management, and Treatment

Call for Papers

The field of primary immunodeficiencies (PIDs) has undoubtedly made enormous strides in the last decade including, improved classification of PIDs based on enhanced recognition of the genetic and immunological and clinical heterogeneity along with advances in treatment. PIDs, in particular, contribute to our growing understanding of human immunobiology by prompting mechanistic questions probing the molecular and biochemical underpinnings further unveiling the complex interactions and functions of the human immune system. Accessibility to sophisticated diagnostic testing has become more widely available, facilitating rapid evaluation and intervention in patients. Improvement in diagnosis has changed our understanding about the incidence and prevalence of PID in various ethnic populations. Also, over the years, clinical treatment options have improved on multiple fronts. In summary, the field of PIDs is constantly self-renewing with gain of knowledge in all these key areas – biology, diagnosis, management, and treatment.

We invite investigators to contribute original research articles as well as review articles that will help enhance our understanding of the biology, diagnosis, management, and treatment of primary immunodeficiencies. We are interested in articles that describe (1) diagnostic advances in identification of genetic defects in PIDs and phenotypic and functional characterization of novel and previously described PIDs, (2) advances in management approaches for newly diagnosed PID patients as well as for long-term followup, (3) newborn or other screening strategies for primary immunodeficiencies, (4) new approaches to PID therapy, including hematopoietic cell transplantation, gene therapy, and induced pluripotent stem cell therapy, and (5) elucidation of the spectrum of clinical and immunological presentation of PIDs and the biological underpinnings of immune development and function. Potential topics include, but are not limited to:

  • Screening (newborn or other early screening measures) for primary immunodeficiencies
  • Laboratory diagnosis of primary immunodeficiencies, including genomic and phenotyping and functional analyses
  • Expanding our understanding of human immunobiology using primary immunodeficiencies as models
  • Treatment advances for primary immunodeficiencies
  • Atypical presentations of typical primary immunodeficiencies
  • Immune dysregulation (autoimmunity and autoinflammatory conditions) in primary immunodeficiencies
  • Immunometabolomics in primary immunodeficeincies

Before submission authors should carefully read over the journal’s Author Guidelines which are located at Prospective authors should submit an electronic copy of their complete manuscript through the journal Manuscript Tracking System at according to the following timetable:

Manuscript DueFriday, 30 May 2014
First Round of ReviewsFriday, 22 August 2014
Publication DateFriday, 17 October 2014

Lead Guest Editor

  • Roshini Sarah Abraham, Department of Laboratory Medicine and Pathology, Cellular and Molecular Immunology Laboratory, Mayo Clinic, Rochester, MN, USA

Guest Editors

  • Jolan Walter, Department of Pediatrics (Pediatric Immunology), Massachusetts General Hospital, Boston, MA, USA
  • Catharina Schuetz, Department of Pediatric Immunology, BMT and Rheumatology, University of Ulm, Ulm, Germany