RESUMEN

We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient's mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH - IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.

Asunto(s)

Inmunodeficiencia Variable Común , Síndromes de Inmunodeficiencia , Niño , Humanos , Femenino , Haploinsuficiencia , Inmunodeficiencia Variable Común/diagnóstico , Inmunodeficiencia Variable Común/genética , Mutación del Sistema de Lectura , Madres , Subunidad p50 de NF-kappa B/genética