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. 2022 Jan;64(1):e14960.
doi: 10.1111/ped.14960.

Pernicious anemia associated with Kabuki syndrome

Satoru Matsushima  1 , Keisuke Kato  1 , Ai Yoshimi  1 , Koh-Ichiro Yoshiura  2 , Masahiro Tsuchida  1
Affiliations

Pernicious anemia associated with Kabuki syndrome

Satoru Matsushima et al. Pediatr Int. 2022 Jan.
No abstract available

Keywords: KMT2D gene mutation; Kabuki syndrome; autoimmune disorder; pernicious anemia.

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References

    1. Niikawa N, Kuroki Y, Kajii T et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am. J. Med. Genet. 1988; 31: 565-89.
    1. Margot H, Boursier G, Duflos C et al. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genet. Med. 2020; 22: 181-8.
    1. Green MR. Chromatin modifying gene mutations in follicular lymphoma. Blood 2018; 131: 595-604.
    1. Ortega-Molina A, Boss IW, Canela A et al. The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development. Nat. Med. 2015; 21: 1199-208. https://doi.org/10.1038/nm.3943
    1. Lindsley AW, Saal HM, Burrow TA et al. Defects of B cell terminal differentiation in patients with type-1 Kabuki syndrome. J. Allergy Clin. Immunol. 2016; 137: 179-87.

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