title: Autoimmune liver disease in Noonan Syndrome.
abstract: Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Autoimmune Hepatitis (AIH) is a cryptogenic, chronic and progressive necroinflammatory liver disease. Common features of AIH are hypergammaglobulinemia (IgG), presence of circulating autoantibodies, histological picture of interface hepatitis and response to immunosuppressant drugs. Conventional treatment with Prednisone and Azathioprine is effective in most patients. We describe the case of a 6 years-old girl with Noonan Syndrome and Autoimmune Hepatitis type 1. Molecular analysis of PTPN11 gene showed heterozygous mutation c.923A>G (Asn308Ser) in exon 8. Though association between NS and autoimmune disorders is known, this is the second case of association between Noonan Syndrome and Autoimmune Hepatitis type 1 described in literature. In the management of NS, an accurate clinical evaluation would be recommended. When there is a clinical suspicion of autoimmune phenomena, appropriate laboratory tests should be performed with the aim of clarifying whether the immune system is involved in NS. We think that autoimmunity represents a characteristic of NS, even if the etiopathogenesis is still unknown.
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: italia.loddo@gmail.com.
authors.forename: Italia
authors.initials: I
authors.lastname: Loddo
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: romanoc@unime.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Romano
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: mamicia@libero.it.
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Cutrupi
authors.affiliation: Department of Gastroenterology, IsMeTT, Palermo, Italy. Electronic address: msciveres@ismett.edu.
authors.forename: Marco
authors.initials: M
authors.lastname: Sciveres
authors.affiliation: Department of Gastroenterology, IsMeTT, Palermo, Italy. Electronic address: sriva@ismett.edu.
authors.forename: Silvia
authors.initials: S
authors.lastname: Riva
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: anna_salpietro@hotmail.it.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Salpietro
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: valeriaferrau@virgilio.it.
authors.forename: Valeria
authors.initials: V
authors.lastname: Ferraù
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: rgallizzi@unime.it.
authors.forename: Romina
authors.initials: R
authors.lastname: Gallizzi
authors.affiliation: Genetics and Pediatric Immunology Unit, Department of Pediatric Sciences, University of Messina, Messina, Italy. Electronic address: sbriuglia@unime.it.
authors.forename: Silvana
authors.initials: S
authors.lastname: Briuglia
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008107:Liver Diseases / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: D007074:Immunoglobulin G; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Autoimmune hepatitis; Noonan syndrome; PTPN11; RASopathies