Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies

Inductive foraging: improving the diagnostic yield of primary care consultations.

BACKGROUND Physicians attempting to make a diagnosis arrive at specific hypotheses early in their encounter with patients. Further data are collected in the light of these early hypotheses. While this hypothetico-deductive model has been accepted as both a description of physicians' data gathering and a norm, little attention has been paid to the preceding stage of the consultation. HYPOTHESI...

The primary immunodeficiencies.

Primary immunodeficiencies

Primary immunodeficiencies (PID) are inherited disorders of immune system function [1,2] characterised by absent or low response to infectious agents and a high prevalence of autoimmune manifestations and lymphoproliferative diseases. More than 120 PID in which a molecular defect causes the disease have been identified. The IUIS/WHO Experts Committee published a classification of all PID known ...

Gene Therapy for Primary Immunodeficiencies

Primary immunodeficiencies (PID) are caused by mutations in genes involved in the normal development or activity of the immune system [1, 2]. PIDs include Band T-cell defects, phagocytic disorders, and complement deficiencies with the common feature of frequent lifethreatening infections. The phenotypes vary from asymptomatic (IgA deficiency) to severe PIDs (such as Severe combined immunodefici...

Primary immunodeficiencies: 2009 update.

More than 50 years after Ogdeon Bruton's discovery of congenital agammaglobulinemia, human primary immunodeficiencies (PIDs) continue to unravel novel molecular and cellular mechanisms that govern development and function of the human immune system. This report provides the updated classification of PIDs that has been compiled by the International Union of Immunological Societies Expert Committ...