The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
L Gámez-Díaz, D August, P Stepensky… - Journal of Allergy and …, 2016 - Elsevier
Background LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein
expression. Objective We sought to report the extended phenotype of LRBA deficiency in a
cohort of 22 LRBA-deficient patients. Methods Clinical criteria, protein detection, and genetic
sequencing were applied to diagnose LRBA deficiency. Results Ninety-three patients met
the inclusion criteria and were considered to have possible LRBA deficiency. Twenty-four …
immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein
expression. Objective We sought to report the extended phenotype of LRBA deficiency in a
cohort of 22 LRBA-deficient patients. Methods Clinical criteria, protein detection, and genetic
sequencing were applied to diagnose LRBA deficiency. Results Ninety-three patients met
the inclusion criteria and were considered to have possible LRBA deficiency. Twenty-four …