Article

New frontiers of primary antibody deficiencies.

Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.
Cellular and Molecular Life Sciences CMLS (impact factor: 6.57). 01/2012; 69(1):59-73. DOI:10.1007/s00018-011-0836-x pp.59-73
Source: PubMed

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.

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Keywords

18 different genes
 
B cell differentiation
 
good patient care
 
idiopathic hypogammaglobulinemia
 
Ig class
 
immune system
 
largest group
 
marked reduction
 
new PAD
 
new technical developments
 
normal B cell differentiation
 
PAD patients
 
Primary antibody deficiencies
 
recombination deficiencies
 
serum immunoglobulins
 
underlying gene defects