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For: Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, Ferraù V, Gallizzi R, Briuglia S. Autoimmune liver disease in Noonan Syndrome. Eur J Med Genet 2015;58:188-190. [DOI: 10.1016/j.ejmg.2014.12.013] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2014] [Accepted: 12/26/2014] [Indexed: 02/06/2023]

For:	Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, Ferraù V, Gallizzi R, Briuglia S. Autoimmune liver disease in Noonan Syndrome. Eur J Med Genet 2015;58:188-190. [DOI: 10.1016/j.ejmg.2014.12.013] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2014] [Accepted: 12/26/2014] [Indexed: 02/06/2023]

Number

Cited by Other Article(s)

Masuoka S, Tanaka T, Kanaji M, Furukawa K, Koshiba K, Yamada Z, Watanabe E, Kawazoe M, Ito S, Fuchigami A, Nanki T. A case of systemic lupus erythematosus in a patient with Noonan syndrome with recurrent severe hypoglycaemia. Mod Rheumatol Case Rep 2024;8:280-285. [PMID: 38252597 DOI: 10.1093/mrcr/rxae004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/07/2023] [Revised: 12/25/2023] [Accepted: 01/17/2024] [Indexed: 01/24/2024]

Bernasconi E, Biagi M, Di Agostino S, Cursaro C, Felicani C, Ronconi E, Franchi E, Costanzo AC, Gabrielli F, Cavicchioli A, Ienopoli G, Marenghi P, Bartoli A, Serra B, Scalabrini D, Sighinolfi P, Andreone P. Investigating Acute Hepatitis after SARS-CoV-2 Vaccination or Infection: A Genetic Case Series. Biomedicines 2023;11:2848. [PMID: 37893221 PMCID: PMC10604753 DOI: 10.3390/biomedicines11102848] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2023] [Revised: 10/14/2023] [Accepted: 10/16/2023] [Indexed: 10/29/2023] Open

Abstract

(1) Background: Despite the advantages of COVID-19 vaccination, rare cases of acute hepatitis developing after the administration of the COVID-19 vaccine or the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection have been reported. The aim of the study is to describe a case series of patients who experienced the onset of acute hepatitis, with or without autoimmune features, following SARS-CoV-2 vaccination or infection and to hypothesize a genetic susceptibility in the pathogenesis. (2) Methods: A group of patients with acute onset hepatitis following SARS-CoV-2 vaccination or infection were evaluated in our hepatology outpatient clinic, where they underwent biochemical and autoimmune tests. Hepatitis A (HAV), B (HBV), and C virus (HCV), cytomegalovirus (CMV), Epstein-Barr virus (EBV), and human immunodeficiency virus (HIV) infections were excluded. Patients with a diagnosis of autoimmune hepatitis (AIH) or drug-induced liver injury (DILI) underwent HLA typing and histological testing. (3) Results: Five patients experienced new-onset AIH after COVID-19 vaccination, one of which developed mild symptoms after vaccination that strongly worsened during subsequent SARS-CoV-2 infection. One patient had AIH relapse after COVID-19 vaccination while on maintenance immunosuppressive treatment. All of them had HLA DRB1 alleles known to confer susceptibility to AIH (HLA DRB1*03,*07,*13,*14), and in three of them, HLA DRB1*11 was also detected. Two patients developed acute hepatitis without autoimmune hallmarks which resolved spontaneously, both positive for HLA DRB1*11. (4) Conclusions: An association between AIH and COVID-19 vaccine or infection can be hypothesized in individuals with a genetic predisposition. In patients without autoimmune features and spontaneous improvement of hypertransaminasemia, the diagnosis of drug-induced liver injury (DILI) is probable. Further studies are needed to determine the presence of an actual association and identify a possible role of HLA DRB1*11 in the pathogenesis of acute liver injury after SARS-CoV2 vaccination or infection.

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Affiliation(s)

Elisa Bernasconi Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Matteo Biagi Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Stefania Di Agostino Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Carmela Cursaro Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Cristina Felicani Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Enrico Ronconi Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Elena Franchi Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Arianna Carmen Costanzo Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Filippo Gabrielli Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Alessia Cavicchioli Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Giuseppe Ienopoli Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Paolo Marenghi Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Alessandra Bartoli Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Beatrice Serra Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Davide Scalabrini Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Pamela Sighinolfi Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.)
Pietro Andreone Department of Internal Medicine, Civil Hospital of Baggiovara, University of Modena and Reggio Emilia, Baggiovara, 41126 Modena, Italy; (E.B.); (M.B.); (S.D.A.); (C.C.); (C.F.); (E.R.); (E.F.); (A.C.C.); (F.G.); (A.C.); (G.I.); (P.M.); (A.B.); (B.S.); (D.S.); (P.S.) Department of Internal Medicine, General, Emergency and Post-Acute, Division of Metabolic Internal Medicine, Civil Hospital of Baggiovara, Azienda Ospedaliero-Universitaria di Modena, Baggiovara, 41126 Modena, Italy

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Alhalak R, Al-Haideri MH, Khan A. An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report. Cureus 2023;15:e35021. [PMID: 36938251 PMCID: PMC10022705 DOI: 10.7759/cureus.35021] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/15/2023] [Indexed: 02/17/2023] Open

Tamburrino F, Scarano E, Schiavariello C, Perri A, Pession A, Mazzanti L. Endocrinological manifestations in RASopathies. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2022;190:471-477. [PMID: 36401574 DOI: 10.1002/ajmg.c.32013] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/02/2022] [Revised: 10/26/2022] [Accepted: 11/03/2022] [Indexed: 11/21/2022]

Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C. Management of nutritional and gastrointestinal issues in RASopathies: A narrative review. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2022;190:478-493. [PMID: 36515923 DOI: 10.1002/ajmg.c.32019] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/27/2022] [Revised: 11/18/2022] [Accepted: 11/21/2022] [Indexed: 12/15/2022]

Affiliation(s)

Roberta Onesimo Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Valentina Giorgio Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Germana Viscogliosi Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Elisabetta Sforza DIpartimento Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
Eliza Kuczynska Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Gaia Margiotta Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Mariella Iademarco Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Francesco Proli Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Donato Rigante Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy DIpartimento Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
Giuseppe Zampino Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy DIpartimento Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
Chiara Leoni Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy

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Pan J, Zhou L, Zhang C, Xu Q, Sun Y. Targeting protein phosphatases for the treatment of inflammation-related diseases: From signaling to therapy. Signal Transduct Target Ther 2022;7:177. [PMID: 35665742 PMCID: PMC9166240 DOI: 10.1038/s41392-022-01038-3] [Citation(s) in RCA: 40] [Impact Index Per Article: 13.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/17/2022] [Revised: 04/28/2022] [Accepted: 05/25/2022] [Indexed: 11/09/2022] Open

Bellacchio E. Intramolecular Interaction with the E6 Region Stabilizes the Closed Conformation of the N-SH2 Domain and Concurs with the Self-Inhibitory Docking in Downregulating the Activity of the SHP2 Tyrosine Phosphatase: A Molecular Dynamics Study. Int J Mol Sci 2022;23:ijms23094794. [PMID: 35563185 PMCID: PMC9105505 DOI: 10.3390/ijms23094794] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/14/2022] [Accepted: 04/15/2022] [Indexed: 12/04/2022] Open

Capra AP, Chiara E, Briuglia S. Autoimmune hepatitis in genetic syndromes: A literature review. World J Hepatol 2021;13:1328-1340. [PMID: 34786169 PMCID: PMC8568577 DOI: 10.4254/wjh.v13.i10.1328] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/24/2021] [Revised: 06/25/2021] [Accepted: 09/06/2021] [Indexed: 02/06/2023] Open

Abstract

Genetic syndromes represent relevant and rare diseases. These conditions include a large amount of epidemiological, pathogenetic and clinical features. However, a systematic approach to genetic syndromes is often prevented by the rareness of these diseases. So, although clinical features are usually precisely defined, nowadays more uncommon associations between genetic syndromes and internal medicine related diseases have been insufficiently studied. Autoimmune hepatitis (AIH) is a chronic liver disease caused by loss of tolerance to hepatocyte-specific auto-antigens. Conversely, a better knowledge about specific genetic syndromes in which AIH is more frequent could be important in the clinical management of patients, both for an early diagnosis and for a prompt therapy. Furthermore, a systematic approach could explain if onset, clinical course, and response to treatment of AIH are typical for specific genetic syndromes. We took in consideration all the scientific articles reported in PubMed in the last 10 years, from 2010 to 2020. The purpose of this review is to explore the prevalence of AIH in genetic syndrome, but also to suggest new classification, that could be useful for pathogenetic hypothesis and clinical approach to genetic syndrome. From the 139 publications selected using keywords “autoimmune hepatitis” and “genetic syndrome”, 30 papers (21.6%) respected the chosen inclusion criteria, reporting the association between AIH in patients with a genetic syndrome. We have collected in all 47 patients with AIH and genetic syndrome, and with median age of 12.6-year-old. We suggest that when a patient presents a clinical picture of cryptogenic chronic hepatitis, that is unexplained, it is useful to explore differential diagnosis of AIH associated with genetic syndrome. Given the clinical relevance of this topic, further reports are needed to demonstrate our hypothesis and collect new evidence in this field.

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Siano MA, Marchetti V, Pagano S, Di Candia F, Alessio M, De Brasi D, De Luca A, Pinna V, Sestito S, Concolino D, Tartaglia M, Strisciuglio P, D'Esposito V, Cabaro S, Perruolo G, Formisano P, Melis D. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity. Orphanet J Rare Dis 2021;16:410. [PMID: 34600590 PMCID: PMC8487584 DOI: 10.1186/s13023-021-02050-6] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/26/2021] [Accepted: 09/19/2021] [Indexed: 01/21/2023] Open

Affiliation(s)

M A Siano Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", Salerno, Italy
V Marchetti Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy
S Pagano Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy
F Di Candia Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy
M Alessio Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy
D De Brasi Dipartimento di Pediatria, A.O.R.N. "Santobono-Pausillipon", Napoli, Italy
A De Luca Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Foggia, Italy
V Pinna Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Foggia, Italy
S Sestito Dipartimento di Medicina Clinica e Sperimentale, Università "Magna Graecia" di Catanzaro, Catanzaro, Italy
D Concolino Dipartimento di Medicina Clinica e Sperimentale, Università "Magna Graecia" di Catanzaro, Catanzaro, Italy
M Tartaglia Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy
P Strisciuglio Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy
V D'Esposito Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli "Federico II" & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy
S Cabaro Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli "Federico II" & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy
G Perruolo Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli "Federico II" & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy
P Formisano Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli "Federico II" & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy
D Melis Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", Salerno, Italy. Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli "Federico II", Napoli, Italy.

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Delehaye C, Della Corte M, Ranucci G, Prestipino E, De Brasi D, Varone A. Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence? Eur J Med Genet 2021;64:104284. [PMID: 34242782 DOI: 10.1016/j.ejmg.2021.104284] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/16/2021] [Revised: 06/23/2021] [Accepted: 07/03/2021] [Indexed: 12/16/2022]

Engel B, Laschtowitz A, Janik MK, Junge N, Baumann U, Milkiewicz P, Taubert R, Sebode M. Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review. Eur J Med Genet 2021;64:104214. [PMID: 33812046 DOI: 10.1016/j.ejmg.2021.104214] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/31/2020] [Revised: 03/25/2021] [Accepted: 03/28/2021] [Indexed: 02/06/2023]

Bobot M, Coen M, Simon C, Daniel L, Habib G, Serratrice J. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. Medicine (Baltimore) 2018;97:e0297. [PMID: 29642153 PMCID: PMC5908584 DOI: 10.1097/md.0000000000010297] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/12/2018] [Accepted: 03/12/2018] [Indexed: 11/26/2022] Open

Gordo-Gilart R, Hierro L, Andueza S, Muñoz-Bartolo G, López C, Díaz C, Jara P, Álvarez L. Heterozygous ABCB4 mutations in children with cholestatic liver disease. Liver Int 2016;36:258-67. [PMID: 26153658 DOI: 10.1111/liv.12910] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/17/2015] [Accepted: 07/01/2015] [Indexed: 02/13/2023]