Mousallem, Talal
A nonsense mutation in IKBKB causes combined immunodeficiency. [electronic resource]
- Blood Sep 2014
- 2046-50 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
1528-0020
10.1182/blood-2014-04-571265 doi
Codon, Nonsense
Family
Female
Homozygote
Humans
I-kappa B Kinase--genetics
Infant
Male
Severe Combined Immunodeficiency--diagnosis
Treatment Outcome