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

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Date

2014

Authors

Lee, Cindy
Fulcher, David
Whittle, Belinda
Chand, Rochna
Fewings, Nicole
Field, Matthew
Andrews, Dan
Goodnow, Christopher
Cook, Matthew

Journal Title

Journal ISSN

Volume Title

Publisher

American Society of Hematology

Abstract

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

Description

Keywords

Keywords: immunoglobulin; immunoglobulin enhancer binding protein; protein p100; protein p52; rituximab; adult; alopecia; amino acid substitution; Article; autosomal dominant B cell deficiency; autosomal dominant disorder; B lymphocyte; case report; controlled stud

Citation

URI

http://hdl.handle.net/1885/22160

Collections

ANU Research Publications

Source

Blood

Type

Journal article

Book Title

Entity type

Access Statement

License Rights

DOI

10.1182/blood-2014-06-578542

Restricted until

2037-12-31

Downloads

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Description
01_Lee_Autosomal-dominant_B-cell_2014.pdf (1.91 MB)

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