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

Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.

The Pediatric infectious disease journal - 1 Jan 2021

Athipongarporn Athipat, Ittiwut Chupong, Manuyakorn Wiparat, Assawawiroonhakarn Surapat, Larbcharoensub Noppadol, Shotelersuk Vorasuk

Abstract excerpt

X-linked hyper IgM (X-HIGM) syndrome is a combined immunodeficiency disease caused by mutations in the CD40LG gene, leading to a defect in immunoglobulin (Ig) class switching recombination and effector T-cell responses. X-HIGM patients usually present in early life with pyogenic bacterial and opportunistic infections. Herein, we report a previously healthy 13-year-old Thai boy who first presented with cutaneous...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to CD40 Ligand

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dermatomycoses

Share to Meningitis, Cryptococcal

Share to Mutation

Share to Opportunistic Infections

Source

Identifiers

PMID: 33060515
DOI: 10.1097/INF.0000000000002945

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.PMID 33060515Read ↗

Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.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 ↗

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

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

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

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

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of Hyper IgE syndromes in two Chinese familiesSemantic proximity Read ↗

Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.Semantic proximity Read ↗

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

CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.Semantic proximity Read ↗

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.Semantic proximity Read ↗

X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.Semantic proximity Read ↗

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