Abnormal Immune Profile in Individuals with Kabuki Syndrome

Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981;99(4):565–9. https://doi.org/10.1016/s0022-3476(81)80255-7. PMID: 7277096. n.d.

Article  CAS  PubMed  Google Scholar 

Adam MP, Hudgins L, Hannibal M, Kabuki S. 2011 Sep 1 [updated 2022 Sep 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21882399. n.d.

Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Congenital heart defects in molecularly proven Kabuki syndrome patients. Am J Med Genet A. 2017;173(11):2912–22. Epub 2017 Sep 8. PMID: 28884922. n.d.

Article  CAS  PubMed  Google Scholar 

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau J-C, et al. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genet Med off J Am Coll Med Genet. 2020;22:181–8. https://doi.org/10.1038/s41436-019-0623-x.

Article  Google Scholar 

Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, et al. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol. 2016;137:179–e18710. https://doi.org/10.1016/j.jaci.2015.06.002.

Article  CAS  PubMed  Google Scholar 

Kim J, Nguyen T, Cifello J, Ahmad R, Zhang Y, Yang Q, et al. Lysine methyltransferase Kmt2d regulates naive CD8 + T cell activation-induced survival. Front Immunol. 2022;13:1095140. https://doi.org/10.3389/fimmu.2022.1095140.

Article  CAS  PubMed  Google Scholar 

Placek K, Hu G, Cui K, Zhang D, Ding Y, Lee J-E, et al. MLL4 prepares the enhancer landscape for Foxp3 induction via chromatin looping. Nat Immunol. 2017;18:1035–45. https://doi.org/10.1038/ni.3812.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rossini L, Ricci S, Montin D, Azzari C, Gambineri E, Tellini M, et al. Immunological aspects of Kabuki Syndrome: a retrospective Multicenter Study of the Italian primary Immunodeficiency Network (IPINet). J Clin Immunol. 2024;44:105. https://doi.org/10.1007/s10875-024-01676-y.

Article  CAS  PubMed  Google Scholar 

Zhou X, Edmonson MN, Wilkinson MR, Patel A, Wu G, Liu Y, et al. Exploring genomic alteration in pediatric cancer using ProteinPaint. Nat Genet. 2016;48:4–6. https://doi.org/10.1038/ng.3466.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Duchamp M, Sterlin D, Diabate A, Uring-Lambert B, Guérin‐El Khourouj V, Le Mauff B, et al. B‐cell subpopulations in children: National reference values. Immun Inflamm Dis. 2014;2:131–40. https://doi.org/10.1002/iid3.26.

Article  PubMed  PubMed Central  Google Scholar 

Tosato F, Bucciol G, Pantano G, Putti MC, Sanzari MC, Basso G, et al. Lymphocytes subsets reference values in childhood. Cytometry A. 2015;87:81–5. https://doi.org/10.1002/cyto.a.22520.

Article  CAS  PubMed  Google Scholar 

Morbach H, Eichhorn EM, Liese JG, Girschick HJ. Reference values for B cell subpopulations from infancy to adulthood. Clin Exp Immunol. 2010;162:271–9. https://doi.org/10.1111/j.1365-2249.2010.04206.x.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bisset LR, Lung TL, Kaelin M, Ludwig E, Dubs RW. Reference values for peripheral blood lymphocyte phenotypes applicable to the healthy adult population in Switzerland. Eur J Haematol. 2004;72:203–12. https://doi.org/10.1046/j.0902-4441.2003.00199.x.

Article  PubMed  Google Scholar 

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) Registry Working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7:1763–70. https://doi.org/10.1016/j.jaip.2019.02.004.

Article  PubMed  Google Scholar 

Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981;99:565–9. https://doi.org/10.1016/s0022-3476(81)80255-7.

Article  CAS  PubMed  Google Scholar 

Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42:1473–507. https://doi.org/10.1007/s10875-022-01289-3.

Article  PubMed  PubMed Central  Google Scholar 

Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa’ad AH, Roehrs PA, Bernstein JA. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol. 2016;137(1):179–e18710. Epub 2015 Jul 17. PMID: 26194542; PMCID: PMC4715656. n.d.

Article  CAS  PubMed  Google Scholar 

Warnatz K, Voll RE. Pathogenesis of autoimmunity in common variable immunodeficiency. Front Immunol. 2012;3:210. https://doi.org/10.3389/fimmu.2012.00210.

Article  PubMed  PubMed Central  Google Scholar 

Deane S, Selmi C, Naguwa SM, Teuber SS, Gershwin ME. Common variable immunodeficiency: Etiological and Treatment issues. Int Arch Allergy Immunol. 2009;150:311–24. https://doi.org/10.1159/000226232.

Article  PubMed  PubMed Central  Google Scholar 

Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood. 2008;111:77–85. https://doi.org/10.1182/blood-2007-06-091744.

Article  CAS  PubMed  Google Scholar 

den Braber I, Mugwagwa T, Vrisekoop N, Westera L, Mögling R, de Boer AB, et al. Maintenance of peripheral naive T cells is sustained by thymus output in mice but not humans. Immunity. 2012;36:288–97. https://doi.org/10.1016/j.immuni.2012.02.006.

Article  CAS  Google Scholar 

Muroyama Y, Wherry EJ, Memory T-C, Heterogeneity. Terminology Cold Spring Harb Perspect Biol. 2021;13:a037929. https://doi.org/10.1101/cshperspect.a037929.

Article  CAS  PubMed  Google Scholar 

Malik A, Sayed AA, Han P, Tan MMH, Watt E, Constantinescu-Bercu A, et al. The role of CD8 + T-cell clones in immune thrombocytopenia. Blood. 2023;141:2417–29. https://doi.org/10.1182/blood.2022018380.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Marzollo A, Colavito D, Sartori S, Fanelli GN, Putti MC. Cerebral lymphoproliferation in a patient with Kabuki Syndrome. J Clin Immunol. 2018;38:475–7. https://doi.org/10.1007/s10875-018-0516-9.

Article  PubMed  Google Scholar 

Mock JR, Kolb TM, Illei PB, Yang SC, Lederman HM, Merlo CA. Bronchus-associated lymphoid tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency. Am J Respir Crit Care Med. 2016;194:514–5. https://doi.org/10.1164/rccm.201511-2305IM.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kooshesh KA, Foy BH, Sykes DB, Gustafsson K, Scadden DT. Health consequences of Thymus removal in adults. N Engl J Med. 2023;389:406–17. https://doi.org/10.1056/NEJMoa2302892.

Article  PubMed  PubMed Central  Google Scholar 

Johar A, Sarmiento-Monroy JC, Rojas-Villarraga A, Silva-Lara MF, Patel HR, Mantilla RD, et al. Definition of mutations in polyautoimmunity. J Autoimmun. 2016;72:65–72. https://doi.org/10.1016/j.jaut.2016.05.003.

Article  CAS  PubMed  Google Scholar 

Mitchell JE, Lund MM, Starmer J, Ge K, Magnuson T, Shpargel KB, et al. UTX promotes CD8 + T cell-mediated antiviral defenses but reduces T cell durability. Cell Rep. 2021;35:108966. https://doi.org/10.1016/j.celrep.2021.108966.

Article  CAS  PubMed 

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