Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update

Abstract

SummaryMembers of the European Society for Immunodeficiencies (ESID) and other colleagues have updated the multi-stage expert-opinion-based diagnostic protocol for non-immunologists incorporating newly defined primary immunodeficiency diseases (PIDs). The protocol presented here aims to increase the awareness of PIDs among doctors working in different fields. Prompt identification of PID is important for prognosis, but this may not be an easy task. The protocol therefore starts from the clinical presentation of the patient. Because PIDs may present at all ages, this protocol is aimed at both adult and paediatric physicians. The multi-stage design allows cost-effective screening for PID of the large number of potential cases in the early phases, with more expensive tests reserved for definitive classification in collaboration with a specialist in the field of immunodeficiency at a later stage.

Cytokine Production Assays Reveal Discriminatory Immune Defects in Adults with Recurrent Infections and Noninfectious Inflammation

“…The group of ID patients was classified based on the clinical presentation into: (A) ear-nose-throat or airway infections, (B) pyogenic infections, or (C) opportunistic infections (mainly caused by intracellular bacteria, viruses, and fungi) (13) (Fig. 1).…”

A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies/ Progrese recente în diagnosticul şi tratamentul imunodeficienţelor primare

“…serum immunoglobulin isotype levels plus specific response to vaccination, small lymphocyte panel plus B cell panel plus CD45RA CD4 T cells (+ T cell proliferation) (27). If the results are not conclusive, the next level might include specific membrane protein detection by fl ow cytometry (28)(29)(30). Established diagnostic criteria for SCID variants and recently published guideline for new-born screening are available (31;32).…”

Collaborating to Improve Quality of Life in Primary Immunodeficiencies: World PI Week, 2013

“…Furthermore, in 2012, ESID members collaborated in the publication of an updated PID diagnostic protocol for nonimmunologists. This protocol incorporates newly defined PIDs and is designed to assist physicians caring for adults and children to promptly and cost-effectively screen and diagnose PIDs based on the clinical presentation and laboratory tests, with definitive tests subsequently performed in partnership with specialist immunologists [4].…”