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

Type І hyper IgM syndrome with novel mutation from India.

Indian journal of pediatrics - 1 Jun 2014

Merchant Rashid H, Ahmed Javed, Ahmed Noor, Picard Capucine

Abstract excerpt

Hyper IgM syndrome is a primary immunodeficiency disorder characterized by normal or raised levels of immunoglobulin (Ig) M with low or absent IgG, IgA, and IgE. Five genetic causes of Hyper IgM have been identified. CD40L is deficient on T cells in Type І Hyper IgM, leading to defective interaction between T and B lymphocytes and consequently an inability to switch from production of IgM to other classes of...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to India
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23604614
DOI: 10.1007/s12098-013-1029-4

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

Type І hyper IgM syndrome with novel mutation from India.PMID 23604614Read ↗

X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India.Semantic proximity Read ↗

Hyper IgM syndrome: the other side of the coin.Semantic proximity Read ↗

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.Semantic proximity Read ↗

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.Semantic proximity Read ↗

De novo mutation causing X-linked hyper-IgM syndrome: a family study in Taiwan.Semantic proximity Read ↗

Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.Semantic proximity Read ↗

X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran.Semantic proximity Read ↗

A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.Semantic proximity Read ↗

CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes.Semantic proximity Read ↗

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.Semantic proximity Read ↗

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.Semantic proximity Read ↗

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.Semantic proximity Read ↗

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