S Ricci S Abu-Rumeileh N Campagna F Barbati S Stagi C Canessa L Lodi B Palterer L Maggi A Matucci A Vultaggio F Annunziato C Azzari
10.3389/fimmu.2023.1224603
Front Immunol
2023 Aug 3;14:1224603.
nfkb1 common variable immunodeficiency growth hormone short stature whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/37600787/
Common Variable Immunodeficiency / diagnosis Common Variable Immunodeficiency / genetics Immunologic Deficiency Syndromes
Common Variable Immunodeficiency / diagnosis Common Variable Immunodeficiency / genetics Immunologic Deficiency Syndromes Case Reports Research Support, Non-U.S. Gov't Child Female Frameshift Mutation Haploinsufficiency Humans Mothers NF-kappa B p50 Subunit / genetics NFKB1 protein, human NF-kappa B p50 Subunit
PMC10434558
37600787
Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
2023