相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment
Maria Chiriaco et al.
CLINICAL IMMUNOLOGY (2017)
Activating PI3K mutations in a cohort of 669 patients with primary immunodeficiency
M. Elgizouli et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2016)
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly
Michaela Kuhlen et al.
CLINICAL IMMUNOLOGY (2016)
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
Vassilios Lougaris et al.
CLINICAL IMMUNOLOGY (2015)
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis
Heather N. Hartman et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2015)
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome
Sven Kracker et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
M. C. Crank et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2014)
A human immunodeficiency caused by mutations in the PIK3R1 gene
Marie-Celine Deau et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Carrie L. Lucas et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110 delta result in T cell senescence and human immunodeficiency
Carrie L. Lucas et al.
NATURE IMMUNOLOGY (2014)
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage
Ivan Angulo et al.
SCIENCE (2013)
Cell type specificity of PI3K signaling in Pdk1-and Pten-deficient brains
Nader Chalhoub et al.
GENES & DEVELOPMENT (2009)
Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiology
S. -T. Jou et al.
INTERNATIONAL JOURNAL OF IMMUNOGENETICS (2006)