Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

Genetic faults in several components of the nuclear factor-κB pathway cause immunodeficiency. Most defects lead to combined immunodeficiency with a range of severity. Heterozygous mutations in NFKB1 were associated with common variable immunodeficiency, however, homozygous mutations have not been de...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2021-02, Vol.147 (2), p.727-733.e2
Hauptverfasser:	Mandola, Amarilla B., Sharfe, Nigel, Nagdi, Zahra, Dadi, Harjit, Vong, Linda, Merico, Daniele, Ngan, Bo, Reid, Brenda, Roifman, Chaim M.
Format:	Artikel
Sprache:	eng
Schlagworte:	autoimmunity B-cell repertoire combined immunodeficiency common variable immunodeficiency hypogammaglobulinemia NFKB1
Online-Zugang:	Volltext
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