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

Clinical Manifestations and Genetic Findings in Three Patients with Chediak-Higashi Syndrome: Highlighting the Splice Site Variants.

Iranian journal of allergy, asthma, and immunology - 3 Jun 2026

Tajik Shaghayegh, Molitor Anne, Alizadeh Zahra, Fazlollahi Mohammad Reza, Carapito Raphael, Akbari Maryam, Badalzadeh Mohsen, Houshmand Massoud, Moin Mostafa, Bahram Seiamak, Pourpak Zahra

Abstract excerpt

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunodeficiency, partial albinism, recurrent infections, and progressive neurologic dysfunction. Unless patients undergo successful hematopoietic cell transplantation (HCT), a majority of them die during childhood because of an accelerated phase of immune dysfunction and hemophagocytic lymphohistiocytosis (HLH). Herein,...

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 Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Phenotype

Share to RNA Splice Sites

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 42437317

Genes

LYST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Manifestations and Genetic Findings in Three Patients with Chediak-Higashi Syndrome: Highlighting the Splice Site Variants.PMID 42437317Read ↗

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Semantic proximity Read ↗

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.Semantic proximity Read ↗

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.Semantic proximity Read ↗

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.Semantic proximity Read ↗

Clinical Manifestations and Immunologic Features of Chediak–Higashi Syndrome: A 12-Year National Registry Study from IranSemantic proximity Read ↗

Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndromeSemantic proximity Read ↗

Diagnosis of Chediak Higashi disease in a 67-year old woman.Semantic proximity Read ↗

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismSemantic proximity Read ↗

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndromeSemantic proximity Read ↗

Towards the targeted management of Chediak-Higashi syndromeSemantic proximity Read ↗

[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].Semantic proximity Read ↗

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.Semantic proximity Read ↗

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