Spectrum of Phenotypes Associated with Mutations in LRBA

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

(2015) Shoshana Revel-Vilk et al.   CLINICAL IMMUNOLOGY

Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype

(2015) Nina Kathrin Serwas et al.   INFLAMMATORY BOWEL DISEASES

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

(2015) Louis-Marie Charbonnier et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

(2015) Markus G. Seidel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2015) B. Lo et al.   SCIENCE

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

The role of autophagy in plasma cell ontogenesis

(2013) Niccolò Pengo et al.   Autophagy

Plasma cells require autophagy for sustainable immunoglobulin production

(2013) Niccolò Pengo et al.   NATURE IMMUNOLOGY

Autophagy in Human Health and Disease

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Frequency and Expression of Inhibitory Markers of CD4+CD25+FOXP3+Regulatory T Cells in Patients with Common Variable Immunodeficiency

(2013) N. Arandi et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease

(2013) Andrew R. Cullinane et al.   TRAFFIC

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

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

(2012) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2012) Abdullah Alangari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

Digestive histopathological presentation of IPEX syndrome

(2008) Natacha Patey-Mariaud de Serre et al.   MODERN PATHOLOGY