New frontiers of primary antibody deficiencies

Mirjam Van Der Burg, Menno C. Van Zelm, Gertjan J A Driessen, Jacques J M Van Dongen

Research output: Contribution to journalReview ArticleResearchpeer-review

17 Citations (Scopus)


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 languageEnglish
Pages (from-to)59-73
Number of pages15
JournalCellular and Molecular Life Sciences
Issue number1
Publication statusPublished - Jan 2012
Externally publishedYes


  • Agammaglobulinemia
  • Idiopathic hypogammaglobulinemia
  • Immunoglobulin class switch recombination deficiency
  • Primary antibody deficiency
  • Serum immunoglobulin

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