DIAGNOSIS AND MANAGEMENT OF A NOVEL PHENOTYPE OF IMMUNODEFICIENCY, CENTROMERIC INSTABILITY, AND FACIAL ANOMALY SYNDROME (ICF) TYPE 4 WITH NEUTROPENIA AND NEUROBLASTOMA

被引:0
|
作者
Greenwood, Katie [1 ]
Miller, Jennifer [1 ]
Diaz, Rosa [1 ]
Foster, Jennifer [1 ]
Martinez, Caridad [1 ]
Nicholas, Sarah [1 ]
机构
[1] Baylor Coll Med, Houston, TX 77030 USA
关键词
D O I
暂无
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
023
引用
收藏
页数:1
相关论文
共 40 条
  • [21] ICF-SYNDROME - IMMUNODEFICIENCY, CHROMOSOMAL CENTROMERIC HETEROCHROMATIN INSTABILITY, FACIAL ANOMALIES - CASE-REPORT AND REVIEW OF THE LITERATURE
    KIEBACK, P
    WENDISCH, H
    LORENZ, P
    HINKEL, K
    MONATSSCHRIFT KINDERHEILKUNDE, 1992, 140 (02) : 91 - 94
  • [22] A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
    Chouery, E.
    Abou-Ghoch, J.
    Corbani, S.
    El Ali, N.
    Korban, R.
    Salem, N.
    Castro, C.
    Klayme, S.
    Rjeily, M. Azoury-Abou
    Khoury-Matar, R.
    Debo, G.
    Germanos-Haddad, M.
    Delague, V.
    Lefranc, G.
    Megarbane, A.
    CLINICAL GENETICS, 2012, 82 (05) : 489 - 493
  • [23] A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)
    Rechavi, Erez
    Lev, Atar
    Eyal, Eran
    Barel, Ortal
    Kol, Nitzan
    Barhom, Sarit Farage
    Pode-Shakked, Ben
    Anikster, Yair
    Somech, Raz
    Simon, Amos J.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (08) : 801 - 809
  • [24] A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)
    Erez Rechavi
    Atar Lev
    Eran Eyal
    Ortal Barel
    Nitzan Kol
    Sarit Farage Barhom
    Ben Pode-Shakked
    Yair Anikster
    Raz Somech
    Amos J. Simon
    Journal of Clinical Immunology, 2016, 36 : 801 - 809
  • [25] Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
    Cerbone, Manuela
    Wang, Jun
    Van der Maarel, Silvere M.
    D'Amico, Alessandra
    D'Agostino, Antonio
    Romano, Alfonso
    Brunetti-Pierri, Nicola
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (08) : 2043 - 2046
  • [26] Immunodeficiency - Centromeric Instability - Facial Dysmorphism (ICF) Syndrome: Evaluation of Characteristics and Outcome after Allogeneic Hematopoietic Stem Cell Transplantation
    Berghuis, Dagmar
    van Leeuwen, Lisanne
    Hoogenboom, Jorinde
    Weemaes, Corry
    Slatter, Mary
    Elfeky, Reem
    Albert, Michael
    Meisel, Roland
    Laberko, Alexandra
    Yesilipek, Akif
    Mehyar, Lubna
    Gennery, Andrew
    Lankester, Arjan
    BONE MARROW TRANSPLANTATION, 2020, 55 (SUPPL 1) : 443 - 444
  • [27] Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation
    Burk, Caitlin M.
    Coffey, Kara E.
    Mace, Emily M.
    Bostwick, Bret L.
    Chinn, Ivan K.
    Coban-Akdemir, Zeynep H.
    Jhangiani, Shalini N.
    Lupski, James R.
    Ortiz, Damara
    Barnum, Jessie L.
    Allen, Steven W.
    Robertson, Leanna-Marie
    Orange, Jordan S.
    Chong, Hey J.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2020, 8 (03): : 1103 - +
  • [28] Mutations in Z8T824 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
    de Greef, Jessica C.
    Wang, Jun
    Balog, Judit
    den Dunnen, Johan T.
    Frants, Rune R.
    Straasheijm, Kirsten R.
    Aytekin, Caner
    van der Burg, Mirjam
    Duprez, Laurence
    Ferster, Alina
    Gennery, Andrew R.
    Gimelli, Giorgio
    Reisli, Ismail
    Schuetz, Catharina
    Schulz, Ansgar
    Smeets, Dominique F. C. M.
    Sznajer, Yves
    Wijmenga, Cisca
    van Eggermond, Maria C.
    van Ostaijen-ten Dam, Monique M.
    Lankester, Arjan C.
    van Tol, Maarten J. D.
    van den Elsen, Peter J.
    Weemaes, Corry M.
    van der Maarel, Silvere M.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (06) : 796 - 804
  • [29] Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1
    Monica T. Kraft
    Lubna S. Mehyar
    Benjamin T. Prince
    Shalini C. Reshmi
    Roshini S. Abraham
    Rolla Abu-Arja
    Journal of Clinical Immunology, 2021, 41 : 1089 - 1094
  • [30] Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I
    Sagie, Shira
    Edni, Omer
    Weinberg, Joseph
    Toubiana, Shir
    Kozlovski, Tal
    Frostig, Tzviel
    Katzin, Nirit
    Bar-Am, Irit
    Selig, Sara
    HUMAN MOLECULAR GENETICS, 2017, 26 (21) : 4244 - 4256