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

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

Blood cells, molecules & diseases - 1 Sept 2014

Madkaikar Manisha, Gupta Maya, Chavan Sushant, Italia Khushnooma, Desai Mukesh, Merchant Rashid, Radhakrishnan Nita, Ghosh Kanjaksha

Abstract excerpt

BACKGROUND: X-linked hyper-IgM (XHIM) is a primary immunodeficiency disorder characterized by recurrent infections, low serum IgG and IgA and normal or elevated IgM. It results from mutations in the CD40 ligand (CD40L) gene. Confirmation of diagnosis with identification of underlying molecular defect is important for the initiation of appropriate therapeutic interventions, including immunoglobulin replacement,...

Read the complete abstract on PubMed

Topics

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

Share to CD40 Ligand
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gene Expression

Share to Immunophenotyping

Share to Infant

Share to T-Lymphocyte Subsets

Source

Identifiers

PMID: 24929972
DOI: 10.1016/j.bcmd.2014.05.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India.PMID 24929972Read ↗

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

Type І hyper IgM syndrome with novel mutation from India.Semantic proximity Read ↗

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

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

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

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

X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype.Semantic proximity Read ↗

Identification of genetic sequence variations associated with the pathogenesis of X-linked hyper-IgM syndromeSemantic proximity Read ↗

Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.Semantic proximity Read ↗

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.Semantic proximity Read ↗

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

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