Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

Journal of clinical immunology - 1 Apr 2014

Crank M C, Grossman J K, Moir S, Pittaluga S, Buckner C M, Kardava L, Agharahimi A, Meuwissen H, Stoddard J, Niemela J, Kuehn H, Rosenzweig S D

Abstract excerpt

Autosomal dominant gain of function mutations in the gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD4 lymphopenia, reduced class-switched memory B cells, lymphadenopathy, CMV and/or EBV viremia and EBV-related lymphoma. A subset of affected patients also had elevated serum IgM. Here we describe three patients in two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Class I Phosphatidylinositol 3-Kinases

Share to Heterozygote

Share to Lymph Nodes

Share to Neoplasms

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 24610295
DOI: 10.1007/s10875-014-0012-9
PMCID: PMC4159085

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.PMID 24610295Read ↗

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) DefectsSemantic proximity Read ↗

Germline-activating mutations in PIK3CD compromise B cell development and function.Semantic proximity Read ↗

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.Semantic proximity Read ↗

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.Semantic proximity Read ↗

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.Semantic proximity Read ↗

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.Semantic proximity Read ↗

A human immunodeficiency caused by mutations in the PIK3R1 gene.Semantic proximity Read ↗

Activated PIK3CD drives innate B cell expansion yet limits B cell–intrinsic immune responsesSemantic proximity Read ↗

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.Semantic proximity Read ↗

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.Semantic proximity Read ↗

E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.Semantic proximity Read ↗

Activated PI3Kinase Delta Syndrome—A Multifaceted DiseaseSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.