Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Abnormalities, Multiple
/ genetics
Adolescent
Adult
Aged
Autoimmune Diseases
/ epidemiology
Child
Child, Preschool
DNA-Binding Proteins
/ genetics
Face
/ abnormalities
Female
Genetic Association Studies
Hematologic Diseases
/ complications
Histone Demethylases
/ genetics
Humans
Infant
Infant, Newborn
Male
Middle Aged
Mutation
Neoplasm Proteins
/ genetics
Prevalence
Primary Immunodeficiency Diseases
/ epidemiology
Registries
Severity of Illness Index
Vestibular Diseases
/ complications
Young Adult
KDM6A
KMT2D
Kabuki syndrome
immunity
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
06
03
2019
accepted:
18
07
2019
pubmed:
1
8
2019
medline:
9
6
2020
entrez:
1
8
2019
Statut:
ppublish
Résumé
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. 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. 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). 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.
Identifiants
pubmed: 31363182
doi: 10.1038/s41436-019-0623-x
pii: S1098-3600(21)01131-X
doi:
Substances chimiques
DNA-Binding Proteins
0
KMT2D protein, human
0
Neoplasm Proteins
0
Histone Demethylases
EC 1.14.11.-
KDM6A protein, human
EC 1.14.11.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
181-188Références
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