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2012 ; 2012
(ä): 301-5
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The many faces of common variable immunodeficiency
#MMPMID23233596
Cunningham-Rundles C
Hematology Am Soc Hematol Educ Program
2012[]; 2012
(ä): 301-5
PMID23233596
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Common variable immunodeficiency (CVID) is a rare immune deficiency characterized
by low levels of serum IgG, IgA, and/or IgM, with a loss of Ab production. The
diagnosis is most commonly made in adults between the ages of 20 and 40 years,
but both children and much older adults can be found to have this immune defect.
The range of clinical manifestations is broad, including acute and chronic
infections, inflammatory and autoimmune diseases, and an increased incidence of
cancer and lymphoma. For all of these reasons, the disease phenotype is both
heterogeneous and complex. In the past few years, data from large patient
registries have revealed that both selected laboratory markers and clinical
phenotyping may aid in separating groups of subjects into biologically relevant
categories. CVID consists of 2 phenotypes, 1 in which infections are the
characteristic and another in which impressive inflammatory and/or hematologic
complications also develop, including lymphadenopathy, splenomegaly, autoimmune
cytopenias, enteropathy, and/or and granulomatous disease. These phenotypes
appear to be stable, are related to immunologic and inflammatory markers, and are
predictive of outcomes. This review outlines current understanding about this
syndrome based on studies of large cohorts, highlighting the evaluation and
treatment of complications and, in particular, the autoimmune and inflammatory
conditions that affect these patients.