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