Common variable immunodeficiency disorders: division into distinct clinical phenotypes Export

@article{citeulike:2630014, abstract = {The European Common Variable Immunodeficiency Disorders registry was started in 1996, in order to define distinct clinical phenotypes and determine overlap within individual patients. Seven centres contributed patient data resulting in the largest cohort yet reported. Patients (334), validated for the diagnosis, were followed for an average of 25.6 years [9,461 patient-years]. Data was used to define five distinct clinical phenotypes: no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy and lymphoid malignancy. Eighty-three percent of patients had only one of these phenotypes. Analysis of mortality showed a considerable reduction in the last 15 years and that different phenotypes were associated with different survival times. Types of complications and clinical phenotypes varied significantly between countries, indicating the need for large, international registries. Ages at onset of symptoms and diagnosis were shown to have a Gaussian distribution, but were not useful predictors of phenotype. The only clinical predictor was polyclonal lymphocytic infiltration, which was associated with a five-fold increased risk of lymphoid malignancy. There was widespread variation in the levels of serum immunoglobulin isotypes as well as in the percentages and absolute numbers of B cells, confirming the heterogeneity of these conditions. Higher serum IgM and lower circulating CD8 proportions were found to be predictive markers for polyclonal lymphocytic infiltration and autoimmunity, respectively. 10.1182/blood-2007-11-124545}, author = {Chapel, Helen and Lucas, Mary and Lee, Martin and Bjorkander, Janne and Webster, David and Grimbacher, Bodo and Fieschi, Clare and Thon, Vojtech and Abedi, Mohammad R. and Hammarstrom, Lennart}, citeulike-article-id = {2630014}, citeulike-linkout-0 = {http://dx.doi.org/10.1182/blood-2007-11-124545}, citeulike-linkout-1 = {http://bloodjournal.hematologylibrary.org/cgi/content/abstract/112/2/277}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/18319398}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=18319398}, day = {4}, doi = {10.1182/blood-2007-11-124545}, journal = {Blood}, keywords = {immunodeficiency}, month = {March}, pages = {blood-2007-11-124545+}, posted-at = {2008-07-29 01:28:14}, priority = {2}, title = {Common variable immunodeficiency disorders: division into distinct clinical phenotypes}, url = {http://dx.doi.org/10.1182/blood-2007-11-124545}, year = {2008} }

TY - JOUR ID - citeulike:2630014 L3 - citeulike-article-id:2630014 N2 - The European Common Variable Immunodeficiency Disorders registry was started in 1996, in order to define distinct clinical phenotypes and determine overlap within individual patients. Seven centres contributed patient data resulting in the largest cohort yet reported. Patients (334), validated for the diagnosis, were followed for an average of 25.6 years [9,461 patient-years]. Data was used to define five distinct clinical phenotypes: no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy and lymphoid malignancy. Eighty-three percent of patients had only one of these phenotypes. Analysis of mortality showed a considerable reduction in the last 15 years and that different phenotypes were associated with different survival times. Types of complications and clinical phenotypes varied significantly between countries, indicating the need for large, international registries. Ages at onset of symptoms and diagnosis were shown to have a Gaussian distribution, but were not useful predictors of phenotype. The only clinical predictor was polyclonal lymphocytic infiltration, which was associated with a five-fold increased risk of lymphoid malignancy. There was widespread variation in the levels of serum immunoglobulin isotypes as well as in the percentages and absolute numbers of B cells, confirming the heterogeneity of these conditions. Higher serum IgM and lower circulating CD8 proportions were found to be predictive markers for polyclonal lymphocytic infiltration and autoimmunity, respectively. 10.1182/blood-2007-11-124545 JF - Blood TI - Common variable immunodeficiency disorders: division into distinct clinical phenotypes SP - blood-2007-11-124545 KW - immunodeficiency AU - Chapel, Helen AU - Lucas, Mary AU - Lee, Martin AU - Bjorkander, Janne AU - Webster, David AU - Grimbacher, Bodo AU - Fieschi, Clare AU - Thon, Vojtech AU - Abedi, Mohammad AU - Hammarstrom, Lennart PY - 2008/03/04/ UR - http://dx.doi.org/10.1182/blood-2007-11-124545 ER -