A Síndrome de Imunodeficiência, Instabilidade da Região Centromérica e Anomalias Faciais (ICF) é uma doença genética rara. Uma pessoa só a desenvolve se herdar uma cópia do gene alterado de cada um dos pais. Ela se caracteriza por uma deficiência no sistema imunológico (o sistema de defesa do corpo), mesmo que um tipo de célula de defesa importante, as células B, esteja presente. Além disso, a síndrome provoca alterações específicas na estrutura dos cromossomos 1 e 16 (e, em alguns casos, do cromossomo 9). Essas alterações acontecem numa região próxima ao "meio" desses cromossomos, que chamamos de centrômero, e também numa parte específica do DNA que fica ao redor, conhecida como heterocromatina justacentromérica.
Introdução
O que você precisa saber de cara
A Síndrome de Imunodeficiência, Instabilidade da Região Centromérica e Anomalias Faciais (ICF) é uma doença genética rara. Uma pessoa só a desenvolve se herdar uma cópia do gene alterado de cada um dos pais. Ela se caracteriza por uma deficiência no sistema imunológico (o sistema de defesa do corpo), mesmo que um tipo de célula de defesa importante, as células B, esteja presente. Além disso, a síndrome provoca alterações específicas na estrutura dos cromossomos 1 e 16 (e, em alguns casos, do cromossomo 9). Essas alterações acontecem numa região próxima ao "meio" desses cromossomos, que chamamos de centrômero, e também numa parte específica do DNA que fica ao redor, conhecida como heterocromatina justacentromérica.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis (PubMed:11598121, PubMed:15994934, PubMed:23166294). Also functions as a critical cofactor for the chromatin remodeler HELLS, facilitating its recruitment to specific genomic regions to maintain DNA methylation patterns and heterochromatin integrity. Re
NucleusCytoplasmChromosome
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
E3 ubiquitin-protein ligase that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification (PubMed:10646863, PubMed:15009091, PubMed:19056828, PubMed:23022729, PubMed:24013172, PubMed:27595565, PubMed:30104358, PubMed:30392929, PubMed:30392931, PubMed:39607687). Plays a key role in DNA methylation inheritance by promoting recruitment of DNMT1 to hemimethylated DNA and ensure faithful propagation of the DNA methylation patterns through DNA replication (PubMed:23022
NucleusChromosome
May be involved in BMP2-induced transcription
Nucleus
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BOR
Nucleus
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
ATP-dependent chromatin remodeler that regulates chromatin accessibility, DNA methylation, and histone modifications. It facilitates de novo DNA methylation at repetitive sequences and promotes transcriptional silencing via recruitment of DNA methyltransferases (DNMTs) and histone deacetylases (HDACs), contributing to heterochromatin formation and repression of transposable elements (PubMed:30307408). Also involved in DNA repair by recruiting DNA damage response mediators to double-strand breaks
NucleusChromosome
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
Variantes genéticas (ClinVar)
128 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome ICF
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
ZBTB24 is a member of a protein family containing a Broad-Complex, Tramtrack, and Bric a Brac (BTB) domain, which functions in protein-protein interactions. ZBTB24, a transcription factor, binds its DNA targets through its C-terminal zinc finger (ZF) domain. Biallelic ZBTB24 pathogenic variants lead to the rare autosomal recessive Immunodeficiency, Centromeric instability and Facial anomalies type 2 (ICF2) syndrome. The majority of ICF2 patients carry biallelic loss-of-function variants in ZBTB24. The remaining patients harbor missense variants in the ZF domain that compromise the ability of ZBTB24 to transcriptionally activate CDCA7, the gene responsible for ICF subtype 3 syndrome. Although an ICF2 patient with compound heterozygous pathogenic variants, including a missense variant (p.Ser59Gly) in the BTB domain, has been reported, no ICF2 patients with biallelic missense variants in any ZBTB24 domains other than the zinc finger domain have been described. Similar to all subtypes of ICF syndrome, ZBTB24 pathogenic variants lead to significant DNA hypomethylation throughout the genome. Here we describe a patient with severe infections initiating during her first year of life, significant developmental delay and an abnormal facial shape, who carries a homozygous p.Val43Leu substitution in the BTB domain of ZBTB24. The patient's peripheral blood cells demonstrate whole genome DNA hypomethylation with patterns identical to those found in verified ICF2 patients. Both the p.Val43Leu and p.Ser59Gly variants cause significant ZBTB24 protein instability. Thus, we demonstrate that pathogenic missense variants in the BTB domain of ZBTB24 can functionally act as loss-of-function variants that result in ICF2 syndrome.
Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome, commonly known as ICF syndrome, is a rare multisystem autosomal recessive disorder. ICF syndrome is primarily classified into five subtypes: ICF1, ICF2, ICF3, ICF4, and ICFX. Among these, the ICF2 subtype is mainly caused by pathogenic variant in the ZBTB24. A 28-year-old female patient was admitted to our hospital presenting with fever and shock. Despite aggressive antimicrobial therapy, the patient continued to experience repeated episodes of infectious shock following admission for sepsis. This abnormality drew the doctors' attention and sparked in-depth discussion and analysis. With the discovery of abnormalities in the patient's immune cells, we became even more convinced that the underlying cause might be a genetic pathogenic variant in the patient. Ultimately, after conducting whole exome sequencing, we identified a homozygous pathogenic variant in the ZBTB24 (chr6:109476256 G>A, NM_014797.3: c.1123C>T, p.Gln375*) in the patient. Based on literature review, we implemented a treatment regimen of gamma globulin (10 g/day) combined with antibiotics for the patient. Our efforts ultimately proved successful: the patient recovered fully and was discharged from the hospital. During the one-year follow-up, the patient remained in good condition. The therapeutic regimen of gamma globulin combined with antibiotics has demonstrated beneficial effects in the treatment of our reported patient.
CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.
DNA methylation is a conserved epigenetic modification essential for maintaining genome stability. However, how methyltransferases maintain CG methylation within compact chromatin, including centromeres, remains unclear. In humans, CDCA7 is necessary for the inheritance of DNA methylation at juxta-centromeres. Mutations that impair its ability to bind chromatin result in Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) syndrome, characterized by centromeric instability. To investigate whether CDCA7 function is conserved, we identified two Arabidopsis thaliana orthologs, CDCA7α and CDCA7β. The loss of both copies results in CG hypomethylation at pericentromeric regions and centromeric satellite repeat arrays. Machine learning analysis suggested that heterochromatic nucleosomes, with enrichment of H1, H2A.W, and H3K9me2, depend heavily on CDCA7 proteins for CG methylation maintenance of the associated DNA. Loss of H1 restores heterochromatic DNA methylation in cdca7α cdca7β mutants, indicating that CDCA7α and CDCA7β mainly remodel H1-containing nucleosomes for methyltransferases to access DNA. Notably, in h1.1 h1.2 mutants, CG methylation shows a significant increase in centromeres, which reveals a new inhibitory role of H1 in DNA methylation maintenance within satellite repeat arrays. Centromeric DNA hypermethylation is lost in h1.1 h1.2 cdca7α cdca7β quadruple mutants, demonstrating that CDCA7α and CDCA7β can act independently of H1 to enhance MET1 activity at nucleosomes. Overall, these findings establish CDCA7α and CDCA7β as conserved regulators of DNA methylation within heterochromatin and centromeric satellite repeat arrays.
ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.
Since its discovery as a causative gene of the Immunodeficiency with Centromeric instability and Facial anomalies syndrome, ZBTB24 has emerged as a key player in DNA methylation, immunity and development. By extensively analyzing ZBTB24 genomic functions in ICF-relevant mouse and human cellular models, we document here its multiple facets as a transcription factor, with key roles in immune response-related genes expression and also in early embryonic development. Using a constitutive Zbtb24 ICF-like mutant and an auxin-inducible degron system in mouse embryonic stem cells, we showed that ZBTB24 is recruited to centromeric satellite DNA where it is required to establish and maintain the correct DNA methylation patterns through the recruitment of DNMT3B. The ability of ZBTB24 to occupy centromeric satellite DNA is conserved in human cells. Together, our results unveiled an essential and underappreciated role for ZBTB24 at mouse and human centromeric satellite repeat arrays by controlling their DNA methylation and transcription status.
Structure of human lymphoid-specific helicase HELLS in its autoinhibitory state.
Helicase, Lymphoid Specific (HELLS), also known as Lymphoid-Specific Helicase (LSH), is a member of the SNF2 chromatin-remodeling family that regulates DNA methylation and heterochromatin organization. Unlike most chromatin remodelers, HELLS is catalytically inactive in its apo form and requires the DNA-binding protein CDCA7 for activation, though the underlying mechanism has remained unclear. Here, we combine biochemical, biophysical and cryo-electron microscopy analyses to define the structural basis of HELLS autoinhibition. HELLS alone assembles into a hexameric (trimer of dimers) architecture stabilized by interactions between its N-terminal coiled-coil (CC) domain and ATPase Lobe-1, while ATPase Lobe-2 remains flexible and disengaged. The CC domain functions both as an oligomerization scaffold and as an autoinhibitory module that restricts catalytic activity. Binding of CDCA7 and DNA promotes formation of an active HELLS-CDCA7-DNA ternary complex. CDCA7 recognizes hemimethylated CpG dinucleotides in both B-form and non-B-form DNA and stimulates HELLS ATPase activity. Together, these findings reveal the mechanism of HELLS autoinhibition and its activation by CDCA7 and DNA, providing new insight into how the HELLS-CDCA7-DNA ternary complex maintains DNA methylation and heterochromatin integrity.
Publicações recentes
Clinical immunology in chromatinopathies: a scoping review.
Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
📖 RevisãoStructure of human lymphoid-specific helicase HELLS in its autoinhibitory state.
Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.
CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.
📚 EuropePMC104 artigos no totalmostrando 87
Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
Frontiers in immunologyStructure of human lymphoid-specific helicase HELLS in its autoinhibitory state.
bioRxiv : the preprint server for biologyEpigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.
Frontiers in immunologyCDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.
Proceedings of the National Academy of Sciences of the United States of AmericaMissense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
Human molecular geneticsImmunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.
Oxford medical case reportsCongenital diseases with defects in DNA methylation maintenance: focusing on ICF syndrome and multilocus imprinting disturbance.
Genes & genetic systemsThe ZBTB24-CDCA7-HELLS axis suppresses the totipotent 2C-like reprogramming by maintaining Dux methylation and repression.
Nucleic acids researchIn-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
Clinical and experimental immunologyCase report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.
Frontiers in immunologyFatal CAEBV-Associated Vasculitis in ICF Syndrome Type 2.
Journal of investigational allergology & clinical immunologyZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.
Human molecular geneticsThe epigenetic modification of DNA methylation in neurological diseases.
Frontiers in immunologyInvestigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome.
Journal of clinical immunologyTelomeres and immunodeficiencies.
Human immunologyMolecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.
Protein science : a publication of the Protein SocietyThe ICF syndrome protein CDCA7 harbors a unique DNA binding domain that recognizes a CpG dyad in the context of a non-B DNA.
Science advancesAllogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Journal of clinical immunologyThe C-terminal 4CXXC-type zinc finger domain of CDCA7 recognizes hemimethylated DNA and modulates activities of chromatin remodeling enzyme HELLS.
Nucleic acids researchA novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.
Frontiers in immunologyCorrigendum: Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity.
Frontiers in immunologyExploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity.
Frontiers in immunologyDNMT3B PWWP mutations cause hypermethylation of heterochromatin.
EMBO reportsCDCA7 is a hemimethylated DNA adaptor for the nucleosome remodeler HELLS.
bioRxiv : the preprint server for biologyThe ICF syndrome protein CDCA7 harbors a unique DNA-binding domain that recognizes a CpG dyad in the context of a non-B DNA.
bioRxiv : the preprint server for biologyICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.
BiomoleculesEvaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Journal of clinical immunologyAuthor Correction: Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24.
Cellular & molecular immunologyEnhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24.
Cellular & molecular immunologyCoevolution of the CDCA7-HELLS ICF-related nucleosome remodeling complex and DNA methyltransferases.
eLifeA novel mutation in DNMT3B gene causing ICF1 syndrome in an infant with refractory thrombocytopenia.
Clinical immunology (Orlando, Fla.)Dimerization choice and alternative functions of ZBTB transcription factors.
The FEBS journalImmunophenotype, Karyotype and Molecular Findings in a Case of ICF Syndrome.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionCharacterization of a mouse model of ICF syndrome reveals enhanced CD19 activation in inducing hypogammaglobulinemia.
bioRxiv : the preprint server for biologyFragile sites, chromosomal lesions, tandem repeats, and disease.
Frontiers in geneticsNovel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Human molecular geneticsNovel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery.
Endocrine, metabolic & immune disorders drug targetsStructure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations.
Nature communicationsRisks and rewards of big-data in epigenomics research: an interview with Melanie Ehrlich.
EpigenomicsLymphoid-specific helicase in epigenetics, DNA repair and cancer.
British journal of cancerCentromeres Transcription and Transcripts for Better and for Worse.
Progress in molecular and subcellular biologyLosing DNA methylation at repetitive elements and breaking bad.
Epigenetics & chromatinChromatin remodeling in replication-uncoupled maintenance DNA methylation and chromosome stability: Insights from ICF syndrome studies.
Genes to cells : devoted to molecular & cellular mechanismsImmunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.
Iranian journal of allergy, asthma, and immunologyCDCA7 and HELLS suppress DNA:RNA hybrid-associated DNA damage at pericentromeric repeats.
Scientific reportsLoss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
The Journal of experimental medicineLsh/HELLS is required for B lymphocyte development and immunoglobulin class switch recombination.
Proceedings of the National Academy of Sciences of the United States of AmericaComprehensive structure-function characterization of DNMT3B and DNMT3A reveals distinctive de novo DNA methylation mechanisms.
Nature communicationsClinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.
Endocrine, metabolic & immune disorders drug targetsDNMT3B deficiency presenting as severe combined immune deficiency: A case report.
Clinical immunology (Orlando, Fla.)Does DNA Methylation Matter in FSHD?
GenesHuman subtelomeric DNA methylation: regulation and roles in telomere function.
Current opinion in genetics & developmentA young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.
ImmunobiologyThe human HELLS chromatin remodelling protein promotes end resection to facilitate homologous recombination and contributes to DSB repair within heterochromatin.
Nucleic acids researchPersistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction.
eLifeDNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.
Essays in biochemistryIdentification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation.
Genes to cells : devoted to molecular & cellular mechanismsImmunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
The journal of allergy and clinical immunology. In practiceAn acquired high-risk chromosome instability phenotype in multiple myeloma: Jumping 1q Syndrome.
Blood cancer journalStructural basis of specific DNA binding by the transcription factor ZBTB24.
Nucleic acids researchA functional assay to classify ZBTB24 missense variants of unknown significance.
Human mutationProgressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).
Diseases (Basel, Switzerland)[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatricsRepetitive Fragile Sites: Centromere Satellite DNA As a Source of Genome Instability in Human Diseases.
GenesThree Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
Journal of clinical immunologyPericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome.
eLifeDNMT3B Functions: Novel Insights From Human Disease.
Frontiers in cell and developmental biologyClinical and Immunological Characterization of ICF Syndrome in Japan.
Journal of clinical immunologyCDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
The Journal of clinical investigationZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation.
Nucleic acids researchSubtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
Human molecular geneticsComparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.
Human molecular geneticsDNA:RNA hybrids at telomeres - when it is better to be out of the (R) loop.
The FEBS journalHELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaNon-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.
Human molecular geneticsHematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome.
Frontiers in immunologyLsh/HELLS regulates self-renewal/proliferation of neural stem/progenitor cells.
Scientific reportsExpanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
Clinical geneticsTelomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids.
Nature communicationsA Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).
Journal of clinical immunologyVesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.
American journal of medical genetics. Part AConverging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.
Human molecular geneticsMutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
American journal of human geneticsGenetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
Journal of clinical immunologyMutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Nature communicationsGenome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.
PloS oneGenetic alterations of DNA methylation machinery in human diseases.
EpigenomicsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
- Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
- CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.Proceedings of the National Academy of Sciences of the United States of America· 2025· PMID 41370347mais citado
- ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.
- Structure of human lymphoid-specific helicase HELLS in its autoinhibitory state.
- Clinical immunology in chromatinopathies: a scoping review.
- Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2268(Orphanet)
- MONDO:0000133(MONDO)
- GARD:2945(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1869923(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
