RRML - A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies

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Dr. Adrian Man

Nr. 22(3)/2014 DOI:10.2478/rrlm-2014-0034

A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies

Peter J. Späth


Primary immunodeficiencies (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 diagnosis, a cornerstone of optimal, sometimes life-long care at justifiable 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 deficiency syndrome and can profit from non-curative replacement therapies with human immunoglobulin G concentrates. Modes of application, safety and hints for dosing of replacement therapies to reduce 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.

Keywords: Awareness, early diagnosis, gene therapy, hematopoietic stem cell transplantation, immunoglobulin G concentrates, new-born screening, primary immunodeficiencies, replacement therapy

Received: 6.7.2014
Accepted: 25.8.2014
Published: 6.9.2014

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How to cite
Späth PJ. A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies. Rev Romana Med Lab. 2014;22(3):297-309. DOI:10.2478/rrlm-2014-0034