Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3342-3347. doi: 10.1016/j.jaip.2020.05.008.

Abstract

Primary immunodeficiencies (PIDs) are rare, undiagnosed and potentially fatal diseases. Clinical manifestations of PID can be fatal or leave sequelae that worsen the quality of life of patients. Traditionally, the treatment of PIDs has been largely supportive, with the exception of bone marrow transplantation and, more recently, gene therapy. The discovering of new affected pathways, the development of new molecules and biologics, and the increasing understanding of the molecular basis of these disorders have created opportunities in PIDs therapy. This document aims to review current knowledge and to provide recommendations about the diagnosis and clinical management of adults and children with PIDs based on the available scientific evidence taking in to account current practice and future challenges. A systematic review was conducted, and evidence levels based on the available literature are given for each recommendation where available.

Keywords: Antibiotics; Haematopoietic progenitors transplantation; Primary immunodeficiencies; Treatment; Vaccination.

Publication types

  • Systematic Review

MeSH terms

  • Adult
  • Bone Marrow Transplantation
  • Child
  • Consensus
  • Humans
  • Immunologic Deficiency Syndromes* / diagnosis
  • Immunologic Deficiency Syndromes* / therapy
  • Primary Immunodeficiency Diseases*
  • Quality of Life