scholarly journals Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

2020 ◽  
Author(s):  
Keyword(s):  
Facial Anomalies ◽  
Centromeric Instability

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.

The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome

Autoimmunity ◽  
2019 ◽  
Vol 52 (5-6) ◽  
pp. 192-198
Author(s):  
Haochang Hu ◽  
Chujia Chen ◽  
Shanping Shi ◽  
Bin Li ◽  
Shiwei Duan
Keyword(s):  
Dna Methylation ◽  
Gene Mutations ◽  
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 Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

2014 ◽  
Vol 9 (1) ◽  
Author(s):  
Horst von Bernuth ◽  
Ethiraj Ravindran ◽  
Hang Du ◽  
Sebastian Fröhler ◽  
Karoline Strehl ◽  
...  
Keyword(s):  
Combined Immunodeficiency ◽  
Facial Anomalies ◽  
Centromeric Instability

scholarly journals DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

2012 ◽  
Vol 20 (10) ◽  
pp. 1044-1050 ◽  
Author(s):  
Erica Lana ◽  
André Mégarbané ◽  
Hélène Tourrière ◽  
Pierre Sarda ◽  
Gérard Lefranc ◽  
...  
Keyword(s):  
Dna Replication ◽  
Facial Anomalies ◽  
Centromeric Instability
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