Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

(2016) Elodie Elkaim et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature

(2016) Slavé Petrovski et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

(2015) Vassilios Lougaris et al.   CLINICAL IMMUNOLOGY

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2015) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

(2014) Sven Kracker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

(2014) M. C. Crank et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Too much of a good thing: immunodeficiency due to hyperactive PI3K signaling

(2014) Craig M. Walsh et al.   JOURNAL OF CLINICAL INVESTIGATION

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

(2014) Carrie L. Lucas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic heterogeneity of diffuse large B-cell lymphoma

(2013) Jenny Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The emerging mechanisms of isoform-specific PI3K signalling

(2010) Bart Vanhaesebroeck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Primary B Cell Immunodeficiencies: Comparisons and Contrasts

(2009) Mary Ellen Conley et al.   Annual Review of Immunology

Somatic Mutations in p85α Promote Tumorigenesis through Class IA PI3K Activation

(2009) Bijay S. Jaiswal et al.   CANCER CELL

Prolonged acquired neutropenia in children

(2009) Jiunn-Ming Sheen et al.   PEDIATRIC BLOOD & CANCER

A frequent kinase domain mutation that changes the interaction between PI3K  and the membrane

(2009) D. Mandelker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE