New frontiers of primary antibody deficiencies

Research output: Contribution to journalArticleAcademicpeer-review

19 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 languageUndefined/Unknown
Pages (from-to)59-73
Number of pages15
JournalCellular and Molecular Life Sciences
Issue number1
Publication statusPublished - 2012

Cite this