Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
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Author / Creator
Kuehn, Hye Sun , Boisson, Bertrand , Cunningham-Rundles, Charlotte , Reichenbach, Janine , Stray-Pedersen, Asbjørg , Gelfand, Erwin W , Maffucci, Patrick , Pierce, Keith R , Abbott, Jordan K , Voelkerding, Karl V , South, Sarah T , Augustine, Nancy H , Bush, Jeana S , Dolen, William K , Wray, Betty B , Itan, Yuval , Cobat, Aurelie , Sorte, Hanne Sørmo , Ganesan, Sundar , Prader, Seraina , Martins, Thomas B , Lawrence, Monica G , Orange, Jordan S , Calvo, Katherine R , Niemela, Julie E , Casanova, Jean-Laurent , Fleisher, Thomas A , Hill, Harry R , Kumánovics, Attila , Conley, Mary Ellen and Rosenzweig, Sergio D
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
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Publication information
Publisher
United States: Massachusetts Medical Society
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More information
Scope and Contents
Contents
Six kindreds had heterozygous mutations in the gene for the IKAROS transcription factor. Twenty-nine patients had late-onset hypogammaglobulinemia, a decrease in peripheral-blood B cells, and normal memory B cells and plasma cells. Acute lymphoblastic leukemia developed in two patients.
The genetic cause of many primary immunodeficiencies remain...
Alternative Titles
Full title
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
Authors, Artists and Contributors
Author / Creator
Boisson, Bertrand
Cunningham-Rundles, Charlotte
Reichenbach, Janine
Stray-Pedersen, Asbjørg
Gelfand, Erwin W
Maffucci, Patrick
Pierce, Keith R
Abbott, Jordan K
Voelkerding, Karl V
South, Sarah T
Augustine, Nancy H
Bush, Jeana S
Dolen, William K
Wray, Betty B
Itan, Yuval
Cobat, Aurelie
Sorte, Hanne Sørmo
Ganesan, Sundar
Prader, Seraina
Martins, Thomas B
Lawrence, Monica G
Orange, Jordan S
Calvo, Katherine R
Niemela, Julie E
Casanova, Jean-Laurent
Fleisher, Thomas A
Hill, Harry R
Kumánovics, Attila
Conley, Mary Ellen
Rosenzweig, Sergio D
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4836293
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4836293
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1512234