Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

(2016) Michaela Kuhlen et al.   CLINICAL IMMUNOLOGY

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

(2015) M. Elgizouli et al.   CLINICAL AND EXPERIMENTAL 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

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

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

(2014) Heather N. Hartman et al.   JOURNAL OF 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

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

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

Cell type specificity of PI3K signaling in Pdk1- and Pten-deficient brains

(2009) N. Chalhoub et al.   GENES & DEVELOPMENT