[Adult-onset primary hypogammaglobulinemia]

Presse Med. 2006 May;35(5 Pt 2):887-94. doi: 10.1016/s0755-4982(06)74708-x.
[Article in French]

Abstract

Hypogammaglobulinemia during adulthood can lead to recurrent infectious diseases, particularly pneumonia, otitis, and sinusitis, mainly due to Streptococcus pneumoniae and Haemophilus influenzae. Physicians must discriminate between primary and secondary hypogammaglobulinemia to provide appropriate treatment. Common variable immunodeficiency (CVID) is the most common cause of primary hypogammaglobulinemia diagnosed in adulthood. Clinical features include various combinations of infectious diseases, autoimmune diseases, lymphoproliferative disorders, and gastrointestinal diseases. Mutations in genes responsible for primary hypogammaglobulinemia in children are occasionally described in adults with CVID. ICOS and TACI deficiencies have recently been reported in a few CVID patients, although most cases have no proven genetic defects. The DefI cohort is recruiting adults with CVID throughout France. It will make it possible to describe the clinical, immunological, and genetic features of French patients with hypogammaglobulinemia and will help us to understand this immune deficiency better.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adult
  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / etiology*
  • Common Variable Immunodeficiency / diagnosis
  • Common Variable Immunodeficiency / immunology
  • Humans
  • Phenotype