title: New frontiers of primary antibody deficiencies.
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.
authors: Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands. m.vanderburg@erasmusmc.nl
authors: Mirjam
authors: M
authors: van der Burg
authors: Menno C
authors: MC
authors: van Zelm
authors: Gertjan J A
authors: GJ
authors: Driessen
authors: Jacques J M
authors: JJ
authors: van Dongen
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D000818:Animals; D001402:B-Lymphocytes / Q000166:cytology / Q000276:immunology; D002454:Cell Differentiation / Q000235:genetics; D017074:Common Variable Immunodeficiency / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D006801:Humans; D017578:Immunoglobulin Class Switching / Q000235:genetics / Q000276:immunology; D007136:Immunoglobulins / Q000172:deficiency / Q000235:genetics / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D008213:Lymphocyte Activation / Q000235:genetics / Q000276:immunology; D051379:Mice; D018345:Mice, Knockout
chemical_list: D007136:Immunoglobulins