Revista Română de Medicină de Laborator Vol. 22, Nr. 3, Septembrie, 2014 297 DOI: 10.2478/rrlm-2014-0034 A glance on recent progresses in diagnosis and treatment of primary immunodefciencies Progrese recente în diagnosticul și tratamentul imunodefciențelor primare Peter J. Späth Institute of Pharmacology, University of Berne, CH-3010 Berne, Switzerland Abstract Primary immunodefciencies (PIDs)* belong to the group of rare diseases which need more awareness by the relevant medical disciplines. Below a review on recent progresses in diagnosis and treatment of PIDs is given. Reducing the regrettable delay in diagnosis of PIDs (worldwide) is possible only when awareness is increased by doctors who may encounter patients with PID. This review shall serve this purpose. Progresses in understanding what the link might be between one genetic defect presenting in various phenotypes or how various gene defects may manifest by very similar PID phenotypes helps building awareness. Knowledge of PID favours early diagno- sis, a cornerstone of optimal, sometimes life-long care at justifable costs. The complexity of PIDs calls for clinical laboratory and clinical diagnostic performed by experts only. Exciting laboratory diagnostic progresses in early diagnosis of the most severe forms of PID are reviewed below. Progresses in curative therapies for PIDs, such as hematopoietic stem cell transplantation and gene therapies, are mentioned in short. About 80% of PID patients suffer from an antibody defciency syndrome and can proft from non-curative replacement therapies with human immunoglobulin G concentrates. Modes of application, safety and hints for dosing of replacement therapies to re- duce frequencies of severe infections are mentioned below. Thanks to the increasing quality of care, patients survive adolescence. A glance is given on the problems of transition to the adult medicine setting. * for abbreviations please consult the list of abbreviations at the end of the manuscript Keywords: Awareness, early diagnosis, gene therapy, hematopoietic stem cell transplantation, immunoglobu- lin G concentrates, new-born screening, primary immunodefciencies, replacement therapy Received: 6 th July 2014; Accepted: 25 th August 2014; Published: 6 th September 2014. *Corresponding author: Peter J Späth , Universitat Bern Bern, Switzerland, e-mail: peter.spaeth@pki.unibe.ch Review