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Quoted phrase not found in phrase index: "Immunodeficiency-centromeric instability-facial anomalies syndrome 2"
Page 1
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S. Bilgic Eltan S, et al. J Clin Immunol. 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. J Clin Immunol. 2023. PMID: 38129713
Further, we observed expanded cT(FH) cells and reduced Treg and follicular regulatory T cells with a skewing to a T(H)2-like phenotype in all tested subpopulations. CONCLUSION: The ICF syndrome encompasses various manifestations affecting multiple end organs. ...
Further, we observed expanded cT(FH) cells and reduced Treg and follicular regulatory T cells with a skewing to a T(H)2-like phenotyp …
CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
Unoki M, Funabiki H, Velasco G, Francastel C, Sasaki H. Unoki M, et al. J Clin Invest. 2019 Jan 2;129(1):78-92. doi: 10.1172/JCI99751. Epub 2018 Nov 19. J Clin Invest. 2019. PMID: 30307408 Free PMC article.
Although less prominent, cells with mutations in the other ICF genes DNMT3B and ZBTB24 (responsible for ICF types 1 and 2, respectively) showed similar defects. Importantly, lymphoblastoid cells from ICF patients shared the same changes detected in the mutant HEK293 cells …
Although less prominent, cells with mutations in the other ICF genes DNMT3B and ZBTB24 (responsible for ICF types 1 and 2, respective …
Syndromes of disordered chromatin remodeling.
Ausió J, Levin DB, De Amorim GV, Bakker S, Macleod PM. Ausió J, et al. Clin Genet. 2003 Aug;64(2):83-95. doi: 10.1034/j.1399-0004.2003.00124.x. Clin Genet. 2003. PMID: 12859401 Review.
These include: alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X); Rett syndrome (RS); immunodeficiency-centromeric instability-facial anomalies syndrome (ICF); Rubinstein-Taybi syndrome (RSTS); and Coffin-Lowry syndrome (CLS …
These include: alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X); Rett syndrome (RS); immunodeficiency-centromeric …
Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.
Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G. Kiaee F, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 32533820
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 charact …
BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF) syndrome is a rare autosomal recessive immune disorder pr …
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S. Kamae C, et al. J Clin Immunol. 2018 Nov;38(8):927-937. doi: 10.1007/s10875-018-0559-y. Epub 2018 Oct 23. J Clin Immunol. 2018. PMID: 30353301
We identified two novel mutations in the DNMT3B gene and one novel mutation in the ZBTB24 gene. All patients showed low serum IgG and/or IgG(2) levels and were treated by periodic immunoglobulin replacement therapy. ...
We identified two novel mutations in the DNMT3B gene and one novel mutation in the ZBTB24 gene. All patients showed low serum IgG and/or IgG …
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) …
While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluati …
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM. von Bernuth H, et al. Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6. Orphanet J Rare Dis. 2014. PMID: 25330735 Free PMC article.
The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ...
The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) i …
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H. Nitta H, et al. J Hum Genet. 2013 Jul;58(7):455-60. doi: 10.1038/jhg.2013.56. Epub 2013 Jun 6. J Hum Genet. 2013. PMID: 23739126
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 and -3 repeats in chromosomes 1, 9 and 16. ICF syndrome is classified into two groups: type 1 …
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypometh …
3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome.
Dupont C, Guimiot F, Perrin L, Marey I, Smiljkovski D, Le Tessier D, Lebugle C, Baumann C, Bourdoncle P, Tabet AC, Aboura A, Benzacken B, Dupont JM. Dupont C, et al. Clin Genet. 2012 Aug;82(2):187-92. doi: 10.1111/j.1399-0004.2011.01697.x. Epub 2011 Jun 3. Clin Genet. 2012. PMID: 21554265
Analysis of DNMT3B did not reveal any mutation in our patient, making this case an ICF type 2. The results of 3D-FISH showed a statistically significant change in the intranuclear position of PH of chromosome 1 in cells of the patient as compared to normal cells. ...
Analysis of DNMT3B did not reveal any mutation in our patient, making this case an ICF type 2. The results of 3D-FISH showed a statis …