Autoimmune disorders in Kabuki syndrome

American Journal of Medical Genetics

Volumn 132 A, Issue 3, 2005, Pages 260-262

  Ming, Jeffrey E ^a,b   Russell, Karen L ^a   McDonald McGinn, Donna M ^a   Zackai, Elaine H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Autoimmune; Congenital malformations; Idiopathic thrombocytopenic purpura; Kabuki syndrome

Indexed keywords

IMMUNOGLOBULIN G;

ADOLESCENT; ANAMNESIS; AUTOIMMUNE DISEASE; B LYMPHOCYTE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; HASHIMOTO DISEASE; HEMOLYTIC ANEMIA; HUMAN; HYPOGAMMAGLOBULINEMIA; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOLOGICAL PROCEDURES; IMMUNOREGULATION; KABUKI MAKEUP SYNDROME; KARYOTYPE; MALE; PRIORITY JOURNAL; RECURRENT DISEASE; RELAPSE; VITILIGO;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AUTOIMMUNE DISEASES; CHILD; CHILD, PRESCHOOL; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; GROWTH DISORDERS; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; SYNDROME; VITILIGO;

PURPURA;

EID: 11344295049     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30332     Document Type: Conference Paper

References (22)

1. Artigas M, Alcazar R, Bel J, Fernandez P, Javier G, Ortega E, Pintos G, Venderell T, Prats J. 1997. Kabuki syndrome and common variable immunodeficiency. Am J Hum Genet 61(Suppl):A91.
2. Bay CA, Wegner K, Mang J, Barudi M, Ayas M, Saalouke M. 1994. Kabuki make up syndrome: Extending the phenotype to include immunological disease, and persistent hypoglycemia. Proc Greenwood Genetic Center 13:92-93.
3. Blanchette V. 2002. Childhood chronic immune thrombocytopenic purpura (ITP). Blood Rev 16:23-26.
4. Cunningham-Rundles C. 2001. Common variable immunodeficiency. Curr Allergy Asthma Rep 1:421-429.
5. DePiero AD, Lourie EM, Berman BW, Robin NH, Zinn AB, Hostoffer RW. 1997. Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. J Pediatr 131:484-486.
6. Devriendt K, Lemli L, Craen M, de Zegher F. 1995. Growth hormone deficiency and premature thelarche in a female infant with Kabuki makeup syndrome. Horm Res 43:303-306.
7. Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. 1998. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. Am J Med Genet 80:362-367.
8. Gennery AR, Barge D, O'Sullivan JJ, Flood TJ, Abinun M, Cant AJ. 2002. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child 86:422-425.
9. Hostoffer RW, Bay CA, Wagner K, Venglarcik J III, Sahara H, Omair E, Clark HT. 1996. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies. Clin Pediatr 35:273-276.
10. Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. 2001. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ velocardiofacial syndrome). J Pediatr 139:715-723.
11. Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485.
12. Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM. 2001. Graves' disease in patients with 22q11.2 deletion. J Pediatr 139:892-895.
13. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 1981. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
14. Kuroki Y, Katsumata N, Eguchi T, Fukushima Y, Suwa S, Kajii T. 1987. Precocious puberty in Kabuki makeup syndrome. J Pediatr 110:750-752.
15. McGaughran J, Aftimos S, Jefferies C, Winship I. 2001. Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. Clin Dysmorphol 10:257-262.
16. Mhanni AA, Cross HG, Chudley AE. 1999. Kabuki syndrome: Description of dental findings in 8 patients. Clin Genet 56:154-157.
17. Nako Y, Maruyama K, Sakaguchi M, Kuroki M, Terao K, Kuribayashi T, Ohshima Y, Nagashima K, Tamura H. 1984. Two cases of autoimmune hemolytic anemia: A case associated with Kabuki make-up syndrome and a case with IgD as an anti-erythrocyte autoantibody. J Jpn Pediatr Soc 88:234-241.
18. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
19. Schrander-Stumpel C, Theunissen P, Hulsmans R, Fryns JP. 1993. Kabuki make-up (Niikawa-Kuroki) syndrome in a girl presenting with vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism. Genet Couns 4:71-72.
20. Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. 1997. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 40:430-436.
21. Tutar HE, Ocal G, Ince E, Cin S. 1994, Premature thelarche in Kabuki make-up syndrome. Acta Paediatr Jpn 36:104-106.
22. Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. 1994. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta Paediatr Jpn 36:727-729.