scholarly journals Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due toZBTB24mutations, presenting with large cerebral cyst

2012 ◽  
Vol 158A (8) ◽  
pp. 2043-2046 ◽  
Author(s):  
Manuela Cerbone ◽  
Jun Wang ◽  
Silvère M. Van der Maarel ◽  
Alessandra D'Amico ◽  
Antonio D'Agostino ◽  
...  
Keyword(s):  
Icf Syndrome ◽  
Facial Anomalies ◽  
Centromeric Instability

Clinical, Immunologic, and Molecular Spectrum of Patients with Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome: a Systematic Review

2020 ◽  
Vol 20 ◽  
Author(s):  
Fatemeh Kiaee ◽  
Majid Zaki-Dizaji ◽  
Nasim Hafezi ◽  
Amir Almasi-Hashiani ◽  
Haleh Hamedifar ◽  
...  
Keyword(s):  
Motor Development ◽  
Fungal Infections ◽  
Disease Free Survival ◽  
Failure To Thrive ◽  
Facial Dysmorphism ◽  
Chronic Infections ◽  
Immune Disorder ◽  
Icf Syndrome ◽  
Facial Anomalies ◽  
Centromeric Instability

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 clinical, immunologic and genetic features of patients with ICF syndrome. Methods: PubMed, Web of Science, and Scopus were searched systemically to find eligible studies. Results: Forty-eight studies with 118 ICF patients who met the inclusion criteria were included in our study. Among these patients, 60% reported with ICF-1, 30% with ICF-2, 4% with ICF-3, and 6% with ICF-4. The four most common symptoms reported in patients with ICF syndrome were: delay in motor development, low birth weight, chronic infections, and diarrhea. Intellectual disability and preterm birth among patients with ICF-2 and failure to thrive, sepsis and fungal infections among patients with ICF-1 were also more frequent. Moreover, the median levels of all three immunoglobulins (IgA, IgG, IgM) were markedly reduced within four types of ICF syndrome. Conclusion: The frequency of diagnosed patients with ICF syndrome has increased. Early diagnosis of ICF is important since immunoglobulin supplementation or allogeneic stem cell transplantation can improve the disease-free survival rate.

scholarly journals Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

PLoS ONE ◽  
2011 ◽  
Vol 6 (4) ◽  
pp. e19464 ◽  
Author(s):  
Marie-Elisabeth Brun ◽  
Erica Lana ◽  
Isabelle Rivals ◽  
Gérard Lefranc ◽  
Pierre Sarda ◽  
...  
Keyword(s):  
Epigenetic Changes ◽  
Icf Syndrome ◽  
Facial Anomalies ◽  
Centromeric Instability ◽  
Heterochromatic Genes

Multibranched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability, and facial anomalies

1989 ◽  
Vol 32 (3) ◽  
pp. 420-424 ◽  
Author(s):  
Catherine Turleau ◽  
Marie-Odile Cabanis ◽  
Danièle Girault ◽  
Françoise Ledeist ◽  
René Mettey ◽  
...  
Keyword(s):  
Icf Syndrome ◽  
Facial Anomalies ◽  
Centromeric Instability

scholarly journals Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Peter E. Thijssen ◽  
Yuya Ito ◽  
Giacomo Grillo ◽  
Jun Wang ◽  
Guillaume Velasco ◽  
...  
Keyword(s):  
Cell Division ◽  
Dna Methyltransferase ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Btb Domain ◽  
Icf Syndrome ◽  
Dna Methyltransferase 3B ◽  
Facial Anomalies ◽  
Life Threatening ◽  
Centromeric Instability

Abstract The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.

scholarly journals Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome

2017 ◽  
Vol 4 (4) ◽  
pp. 1545
Author(s):  
Shailesh Pande ◽  
Mani Bhushan ◽  
Anurita Pais ◽  
Gauri Pradhan ◽  
Chaitali Kadam ◽  
...  
Keyword(s):  
Chromosomal Instability ◽  
Immune Status ◽  
Centromeric Region ◽  
Fragile Sites ◽  
Chromosome 1 ◽  
Centromeric Heterochromatin ◽  
Reference Laboratory ◽  
Icf Syndrome ◽  
Facial Anomalies ◽  
Chromosomal Data

Instability of the heterochromatic centromeric regions of chromosomes 1 associated with immunodeficiency was found in a 3 and half months old girl. The case was referred to Department of Genetics, Global Reference Laboratory, Metropolis Healthcare Ltd, Mumbai with the suspicion of Downs Syndrome for chromosomal karyotyping. This patient had facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1 and homologous and non-homologous associations of these regions were the most common cytogenetic findings in this patient. Multi-branched configurations and whole arm deletions of chromosomes 1 were also found. Comparing clinical and chromosomal data we conclude that the patient was suffering from immunodeficiency, centromeric heterochromatin instability and facial syndrome. The chromosomal karyotyping report was showing instability around vicinity of chromosome 1 and various abnormalities around vicinity of both chromosomes 1 were found in form of random breakages of chromosome 1, fragile sites, deletions/duplications of small and long arm, extra copies of chromosome 1 with rosette formations, exchange of arms and partial aneuploidies of chromosome 1. Further, the investigations regarding the immune status revealed that the level of IgM (5.98 mg/dl), IgA (<6.16mg/dl) and IgG (92.10 mg/dl) subgroup of immunoglobulin was very low. The results were consistent with The Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome. Second sample from the patient for molecular studies could not be collected and performed since the patient failed to survive after 3 and half months.

scholarly journals Progressive Immunodeficiency with Gradual Depletion of B and CD4+ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)

Diseases ◽  
2019 ◽  
Vol 7 (2) ◽  
pp. 34 ◽  
Author(s):  
Georgios Sogkas ◽  
Natalia Dubrowinskaja ◽  
Anke K. Bergmann ◽  
Jana Lentes ◽  
Tim Ripperger ◽  
...  
Keyword(s):  
T Cells ◽  
Cd4 T Cells ◽  
Late Onset ◽  
Epigenetic Modification ◽  
Primary Immunodeficiency Disorder ◽  
Hematopoietic Stem ◽  
Facial Anomalies ◽  
Immunodeficiency Disorder ◽  
Centromeric Instability ◽  
Tract Infections

Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24 gene mutation (c.1222 T>G, p. (Cys408Gly)). Immune deficiency in these patients ranged from late-onset combined immunodeficiency (CID) with severe respiratory tract infections and recurrent shingles to asymptomatic selective antibody deficiency. Evident clinical heterogeneity manifested despite a common genetic background, suggesting the pathogenic relevance of epigenetic modification. Immunological follow-up reveals a previously unidentified gradual depletion of B and CD4+ T cells in all three presented patients with transition of a common variable immunodeficiency (CVID)-like disease to late-onset-CID in one of them. Considering all previously published cases with ICF2, we identify inadequate antibody responses to vaccines and reduction in CD27+ memory B cells as prevalent immunological traits. High mortality among ICF2 patients (20%) together with the progressive course of immunodeficiency suggest that hematopoietic stem cell transplantation (HSCT) should be considered as a treatment option in due time.

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