Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency

Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>

Hye Sun Kuehn, Weiming Ouyang, Bernice Lo et al. · Science · 2014 · 823 citations

Immunodeficiencies, Genetics, Immunology +21

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Desirée Schubert, Claudia Bode, Rupert Kenefeck et al. · Nature Medicine · 2014 · 805 citations · Full text

Immunogenetics, Autoimmune Disease, Immunodeficiencies +12

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

Bernice Lo, Kejian Zhang, Wei Lü et al. · Science · 2015 · 664 citations

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

Gabriela López‐Herrera, Giacomo Tampella, Qiang Pan‐Hammarström et al. · The American Journal of Human Genetics · 2012 · 513 citations · Full text

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Laura Gámez‐Díaz, Dietrich August, Polina Stepensky et al. · Journal of Allergy and Clinical Immunology · 2016 · 285 citations · Full text

Protein Function, Protein Expression, Genetic Disorder +10