id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-268843-zml9lbve	Cuvelier, Geoffrey D.E.	Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency	2018-10-31		.txt	text/plain	5812	253	39	In the Canadian province of Manitoba, our group has periodically managed young infants of Northern Cree First Nations (Aboriginal) descent presenting with early-onset and life-threatening viral, bacterial, Mycobacterial, and fungal infections, clinically resembling severe combined immune deficiency (SCID). Herein we describe the clinical presentation, immunologic features, and HSCT outcomes for the largest cohort of infants with IKBKB immune deficiency resulting from complete loss of IKKβ expression published to date. Supporting a more profound immune deficiency are the other six reported patients with IKBKB mutations, who also presented with severe bacterial, fungal and viral infections as young infants. Like IKBKB immune deficiency, patients with hypermorphic NFKBIA mutations that result in reduced degradation of IκBα, present with multiple and severe bacterial, fungal and viral infections starting at an early age, typically before 3-months.	./cache/cord-268843-zml9lbve.txt	./txt/cord-268843-zml9lbve.txt