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

Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, +33

Science

ImmunodeficienciesGeneticsImmunologyT-regulatory CellPathology +19

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Desirée Schubert, Claudia Bode, Rupert Kenefeck, +37

Nature Medicine

ImmunogeneticsAutoimmune DiseaseImmunodeficienciesGeneticsImmunology +10

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

Bernice Lo, Kejian Zhang, Wei Lü, +30

Science

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

Gabriela López‐Herrera, Giacomo Tampella, Qiang Pan‐Hammarström, +30

The American Journal of Human Genetics

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

Laura Gámez‐Díaz, Dietrich August, Polina Stepensky, +19

Journal of Allergy and Clinical Immunology

Protein FunctionProtein ExpressionGenetic DisorderNatural SciencesGenetics +8

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

Abdullah Alangari, Abdulrahman Alsultan, Nouran Adly, +8

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyImmunogeneticsAutoimmune DiseaseLps-responsive Beige-like AnchorGenetics +10

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

Louis‐Marie Charbonnier, Erin Janssen, Janet Chou, +12

Journal of Allergy and Clinical Immunology

ImmunodeficienciesGeneticsImmunologyImmune RegulationPathology +14

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation

Fayhan Alroqi, Louis‐Marie Charbonnier, Janet Chou, +8

Journal of Allergy and Clinical Immunology

Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, +14

Diabetes

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

Sevgi Köstel Bal, Şule Haskoloğlu, Nina K. Serwas, +12

Journal of Clinical Immunology

Autoimmune DiseaseGenetic DisorderPathologyMedicineInborn Error Of Immunity +1