Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

Most genetic defects that arrest B-cell development in the bone marrow present early in life with agammaglobulinemia, whereas incomplete antibody deficiency is usually associated with circulating B cells. We report 3 related individuals with a novel form of severe B-cell deficiency associated with p...

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Veröffentlicht in:Blood
Hauptverfasser: Lee, Cindy Eunhee, Fulcher, David A., Whittle, Belinda, Chand, Rochna, Fewings, Nicole, Field, Matthew, Andrews, Daniel, Goodnow, Christopher C., Cook, Matthew C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2014
Schlagworte:
Immunobiology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4321335/
https://ncbi.nlm.nih.gov/pubmed/25237204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-06-578542
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