A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis

Aktar, 2019, Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation, Genes Cells, 0, 1

Alghamdi, 2018, Three types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) syndrome identified by Whole-Exome Sequencing in Saudi hypogammaglobulinemia patients: clinical, molecular, and cytogenetic features, J. Clin. Immunol., 38, 847, 10.1007/s10875-018-0569-9

Cerbone, 2012, Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst, Am. J. Med. Genet. A, 158A, 2043, 10.1002/ajmg.a.35486

Chouery, 2012, A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2, Clin. Genet., 82, 489, 10.1111/j.1399-0004.2011.01783.x

Conrad, 2017, Novel ZBTB24 mutation associated with immunodeficiency, centromere instability, and facial anomalies Type-2 syndrome identified in a patient with very early onset inflammatory bowel disease, Inflamm. Bowel Dis., 23, 2252, 10.1097/MIB.0000000000001280

de Greef, 2011, Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2, Am. J. Hum. Genet., 88, 796, 10.1016/j.ajhg.2011.04.018

Hagleitner, 2008, Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome), J. Med. Genet., 45, 93, 10.1136/jmg.2007.053397

Harnisch, 2016, Hematopoietic stem cell transplantation in a patient with ICF2 syndrome presenting with EBV-induced hemophagocytic lymphohystiocytosis, Transplantation, 100, 10.1097/TP.0000000000001210

Jenness, 2018, HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome, Proc. Natl. Acad. Sci. U. S. A., 115, E876, 10.1073/pnas.1717509115

Kamae, 2018, Clinical and immunological characterization of ICF syndrome in Japan, J. Clin. Immunol., 38, 927, 10.1007/s10875-018-0559-y

Liang, 2016, Downregulation of ZBTB24 hampers the G0/1- to S-phase cell-cycle transition via upregulating the expression of IRF-4 in human B cells, Genes Immun., 17, 276, 10.1038/gene.2016.18

Licciardi, 2019, EBV-related Hodgkin Lymphoma in an ICF2 Patient: is EBV susceptibility a hallmark of this ICF subtype?, J. Clin. Immunol., 39, 234, 10.1007/s10875-019-00596-6

Nitta, 2013, Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients, J. Hum. Genet., 58, 455, 10.1038/jhg.2013.56

Picard, 2018, International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity, J. Clin. Immunol., 38, 96, 10.1007/s10875-017-0464-9

Qin, 2019, ZBTB24 regulates the apoptosis of human T cells via CDCA7/TRAIL-receptor axis, Biochem. Biophys. Res. Commun., 514, 259, 10.1016/j.bbrc.2019.04.147

Ren, 2019, Structural basis of specific DNA binding by the transcription factor ZBTB24, Nucleic Acids Res., 47, 8388, 10.1093/nar/gkz557

Ritchie, 1998, Reference distributions for immunoglobulins A, G, and M: a practical, simple, and clinically relevant approach in a large cohort, J. Clin. Lab. Anal., 12, 363, 10.1002/(SICI)1098-2825(1998)12:6<363::AID-JCLA6>3.0.CO;2-X

Shearer, 2003, Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study, J. Allergy Clin. Immunol., 112, 973, 10.1016/j.jaci.2003.07.003

Sogkas, 2019, Progressive immunodeficiency with gradual depletion of B and CD4+ t cells in immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2), Diseases, 7, 10.3390/diseases7020034

Thijssen, 2015, Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome, Nat. Commun., 6, 7870, 10.1038/ncomms8870

Thompson, 2018, ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation, Nucleic Acids Res., 46, 10034, 10.1093/nar/gky682

Toubiana, 2018, Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome, Hum. Mol. Genet., 27, 3568, 10.1093/hmg/ddy265

Unoki, 2019, CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome, J. Clin. Invest., 129, 78, 10.1172/JCI99751

van den Boogaard, 2017, Expanding the mutation spectrum in ICF syndrome: evidence for a gender bias in ICF2, Clin. Genet., 92, 380, 10.1111/cge.12979

Vivante, 2017, Exome sequencing discerns syndromes in patients from consanguineous families with Congenital Anomalies of the Kidneys and Urinary Tract, J. Am. Soc. Nephrol., 28, 69, 10.1681/ASN.2015080962

von Bernuth, 2014, Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2), Orphanet J. Rare Dis., 9, 116, 10.1186/s13023-014-0116-6

Weemaes, 2013, Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects, Eur. J. Hum. Genet., 21, 1219, 10.1038/ejhg.2013.40

Wu, 2016, Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals, Hum. Mol. Genet., 25, 4041, 10.1093/hmg/ddw243

Wu, 2019, A functional assay to classify ZBTB24 missense variants of unknown significance, Hum. Mutat., 40, 1077, 10.1002/humu.23786

Yazdani, 2019, Comparison of common monogenic defects in a large predominantly antibody deficiency cohort, J. Allergy Clin. Immunol. Pract., 7, 10.1016/j.jaip.2018.09.004