Common variable immunodeficiency - an update

被引:126
作者
Salzer, Ulrich [1 ,2 ]
Warnatz, Klaus [1 ,2 ]
Peter, Hans Hartmut [1 ,2 ]
机构
[1] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, D-79108 Freiburg, Germany
[2] Univ Med Ctr Freiburg, Dept Rheumatol, D-79106 Freiburg, Germany
关键词
MEMORY B-CELLS; PRIMARY ANTIBODY DEFICIENCIES; SELECTIVE IGA DEFICIENCY; REGULATORY T-CELLS; IMMUNOLOGICAL FEATURES; SUSCEPTIBILITY LOCUS; IMMUNOGLOBULIN; LINKAGE; ASSOCIATION; LYMPHOCYTES;
D O I
10.1186/ar4032
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Common variable immunodeficiency (CVID) describes a heterogeneous subset of hypogammaglobulinemias of unknown etiology. Typically, patients present with recurrent bacterial infections of the respiratory and gastrointestinal tract. A significant proportion of CVID patients develops additional autoimmune, inflammatory or lymphoproliferative complications. CVID is the most frequent symptomatic primary immunodeficiency encountered in adults. Informative monogenetic defects have been found in single patients and families but in most cases the pathogenesis is still elusive. Numerous immunological studies have demonstrated phenotypic and functional abnormalities of T cells, B cells and antigen-presenting cells. A hallmark is the impaired memory B-cell formation that has been taken advantage of for classifying CVID patients. Clinical multi-center studies have demonstrated a correlation between immunological markers and clinical presentation. Long-term outcome is significantly influenced by delay of diagnosis and treatment and the presence of chronic inflammatory complications. While immunoglobulin replacement therapy plus antibiotics can control infections in most cases, patients with non-infectious inflammatory complications such as granulomatous inflammation, interstitial lung disease, inflammatory bowel disease, lymphoproliferation and developing malignancies still represent a therapeutic challenge. In this review we provide a systematic overview of the immunological, clinical, diagnostic and therapeutic aspects of CVID and highlight recent developments in these fields.
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页数:11
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