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. 2020 Jan;22(1):181-188.
doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot  1 , Guilaine Boursier  2   3 , Claire Duflos  4 , Elodie Sanchez  2   3 , Jeanne Amiel  5 , Jean-Christophe Andrau  6 , Stéphanie Arpin  7 , Elise Brischoux-Boucher  8 , Odile Boute  9 , Lydie Burglen  10 , Charlotte Caille  11 , Yline Capri  12 , Patrick Collignon  13 , Solène Conrad  14 , Valérie Cormier-Daire  5 , Geoffroy Delplancq  8 , Klaus Dieterich  15 , Hélène Dollfus  16 , Mélanie Fradin  17 , Laurence Faivre  18 , Helder Fernandes  19   20   21 , Christine Francannet  22 , Vincent Gatinois  2   3 , Marion Gerard  23 , Alice Goldenberg  24 , Jamal Ghoumid  9 , Sarah Grotto  12 , Anne-Marie Guerrot  24 , Agnès Guichet  25 , Bertrand Isidor  14 , Marie-Line Jacquemont  26   27 , Sophie Julia  28 , Philippe Khau Van Kien  29 , Marine Legendre  1   27 , K H Le Quan Sang  30 , Bruno Leheup  31 , Stanislas Lyonnet  5 , Virginie Magry  22 , Sylvie Manouvrier  9 , Dominique Martin  32 , Godelieve Morel  33 , Arnold Munnich  5 , Sophie Naudion  1   27 , Sylvie Odent  17 , Laurence Perrin  12 , Florence Petit  9 , Nicole Philip  34 , Marlène Rio  5 , Julie Robbe  34 , Massimiliano Rossi  35 , Elisabeth Sarrazin  27 , Annick Toutain  7 , Julien Van Gils  1   27   36 , Gabriella Vera  24 , Alain Verloes  12 , Sacha Weber  23 , Sandra Whalen  37 , Damien Sanlaville  35 , Didier Lacombe  1   27   36 , Nathalie Aladjidi  19   20   21 , David Geneviève  38   39
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Free article

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot et al. Genet Med. 2020 Jan.
Free article

Abstract

Purpose: Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency and severity of the manifestations, we measured the prevalence of immunopathological manifestations as well as genotype-phenotype correlations in KS individuals from a registry.

Methods: Data were for 177 KS individuals with KDM6A or KMT2D pathogenic variants. Questionnaires to clinicians were used to assess the presence of immunodeficiency and autoimmune diseases both on a clinical and biological basis.

Results: Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively; 13.6% (24/177) had autoimmune disease (AID; 25.6% [11/43] in adults), 5.6% (10/177) with ≥2 AID manifestations. The most frequent AID manifestations were immune thrombocytopenic purpura (7.3% [13/177]) and autoimmune hemolytic anemia (4.0% [7/177]). Among nonhematological manifestations, vitiligo was frequent. Immune thrombocytopenic purpura was frequent with missense versus other types of variants (p = 0.027).

Conclusion: The high prevalence of immunopathological manifestations in KS demonstrates the importance of systematic screening and efficient preventive management of these treatable and sometimes life-threatening conditions.

Keywords: KDM6A; KMT2D; Kabuki syndrome; immunity.

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References

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