New frontiers of primary antibody deficiencies

Mirjam van der Burg; Menno van Zelm; Gertjan Driessen; Jacques Dongen

doi:10.1007/s00018-011-0836-x

New frontiers of primary antibody deficiencies

Mirjam van der Burg, Menno van Zelm, Gertjan Driessen, Jacques Dongen

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Abstract

Primary antibody deficiencies (PAD) form the largest group of inherited disorders of the immune system. They are characterized by a marked reduction or absence of serum immunoglobulins (Ig) due to disturbed B cell differentiation and by a poor response to vaccination. PAD can be divided into agammaglobulinemia, Ig class switch recombination deficiencies, and idiopathic hypogammaglobulinemia. Over the past 20 years, defects have been identified in 18 different genes, but in many PAD patients the underlying gene defects have not been found. Diagnosis of known PAD and discovery of new PAD is important for good patient care. In this review, we present the effects of genetic defects in the context of normal B cell differentiation, and we discuss how new technical developments can support understanding and discovering new genetic defects in PAD.

Original language	Undefined/Unknown
Pages (from-to)	59-73
Number of pages	15
Journal	Cellular and Molecular Life Sciences
Volume	69
Issue number	1
DOIs	https://doi.org/10.1007/s00018-011-0836-x
Publication status	Published - 2012

Research programs

EMC MM-02-72-01
EMC MM-04-54-08-A

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1007/s00018-011-0836-x

http://hdl.handle.net/1765/34937

Cite this

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AU - Driessen, Gertjan

AU - Dongen, Jacques

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