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, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2021

Kiaee Fatemeh, Zaki-Dizaji Majid, Hafezi Nasim, Almasi-Hashiani Amir, Hamedifar Haleh, Sabzevari Araz, Shirkani Afshin, Zian Zeineb, Jadidi-Niaragh Farhad, Aghamahdi Fatemeh, Goudarzvand Mahdi, Yazdani Reza, Abolhassani Hassan, Aghamohammadi Asghar, Azizi Gholamreza

Abstract excerpt

BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF) syndrome is a rare autosomal recessive immune disorder presenting with hypogammaglobulinemia, developmental delay, and facial anomalies. The ICF type 1, type 2, type 3 and type 4 are characterized by mutations in DNMT3B, ZBTB24, CDCA7 or HELLS gene, respectively. This study aimed to present a comprehensive description of the...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to Centromere

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

Share to Craniofacial Abnormalities

Share to Mutation

Share to Primary Immunodeficiency Diseases

Source

Identifiers

PMID: 32533820
DOI: 10.2174/1871530320666200613204426

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

Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.PMID 32533820Read ↗

Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.Semantic proximity Read ↗

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.Semantic proximity Read ↗

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).Semantic proximity Read ↗

ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.Semantic proximity Read ↗

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).Semantic proximity Read ↗

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.Semantic proximity Read ↗

DNMT3B deficiency presenting as severe combined immune deficiency: A case report.Semantic proximity Read ↗

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.Semantic proximity Read ↗

ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations.Semantic proximity Read ↗

A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.Semantic proximity Read ↗

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.Semantic proximity Read ↗

Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery.Semantic proximity Read ↗

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