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[PMID]: 28911151 [Au] Autor: Orlova EM; Sozaeva LS; Kareva MA; Oftedal BE; Wolff ASB; Breivik L; Zakharova EY; Ivanova ON; Kämpe O; Dedov II; Knappskog PM; Peterkova VA; Husebye ES [Ad] Endereço: Endocrinology Research Centre, Institute of Paediatric Endocrinology, Moscow 117036, Russia. [Ti] Título: Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. [So] Source: J Clin Endocrinol Metab;102(9):3546-3556, 2017 Sep 01. [Is] ISSN: 1945-7197 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare. Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort. Subjects and Methods: Clinical components were mapped by systematic investigations, sera were screened for autoantibodies associated with APS-1, and AIRE mutations were characterized by Sanger sequencing. Results: We identified 112 patients with APS-1, which is, to the best of our knowledge, the largest cohort described to date. Careful phenotyping revealed several additional and uncommon phenotypes such as cerebellar ataxia with pseudotumor, ptosis, and retinitis pigmentosa. Neutralizing autoantibodies to interferon-ω were found in all patients except for one. The major Finnish mutation c.769C>T (p.R257*) was the most frequent and was present in 72% of the alleles. Altogether, 19 different mutations were found, of which 9 were unknown: c.38T>C (p.L13P), c.173C>T (p.A58V), c.280C>T (p.Q94*), c.554C>G (p.S185*), c.661A>T (p.K221*), c.821del (p.Gly274Afs*104), c.1195G>C (p.A399P), c.1302C>A (p.C434*), and c.1497del (p.A500Pfs*21). Conclusions: The spectrum of phenotypes and AIRE mutation in APS-1 has been expanded. The Finnish major mutation is the most common mutation in Russia and is almost as common as in Finland. Assay of interferon antibodies is a robust screening tool for APS-1. [Mh] Termos MeSH primário: Predisposição Genética para Doença/epidemiologia Mutação Poliendocrinopatias Autoimunes/epidemiologia Poliendocrinopatias Autoimunes/genética Fatores de Transcrição/genética [Mh] Termos MeSH secundário: Adolescente Adulto Idade de Início Criança Pré-Escolar Estudos de Coortes Feminino Genótipo Seres Humanos Masculino Linhagem Fenótipo Poliendocrinopatias Autoimunes/diagnóstico Prevalência Doenças Raras Medição de Risco Federação Russa/epidemiologia Análise de Sobrevida Adulto Jovem [Pt] Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE [Nm] Nome de substância: 0 (APECED protein); 0 (Transcription Factors) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171012 [Lr] Data última revisão: 171012 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170916 [St] Status: MEDLINE [do] DOI: 10.1210/jc.2017-00139

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[PMID]: 28736829 [Au] Autor: Koivula TT; Laakso SM; Niemi HJ; Kekäläinen E; Laine P; Paulin L; Auvinen P; Arstila TP [Ad] Endereço: Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland. [Ti] Título: Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. [So] Source: Scand J Immunol;86(4):221-228, 2017 Oct. [Is] ISSN: 1365-3083 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Mutations in the autoimmune regulator gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease autoimmune polyendocrine syndrome type 1 (APS-1). The patients also have a functional defect in the FOXP3 regulatory T cell population, but its origin is unclear. Here, we have used T cell receptor sequencing to analyse the clonal relationship of major CD4 T cell subsets in three patients and three healthy controls. The naive regulatory T cells showed little overlap with helper T cell subsets, supporting divergence in the thymus. The activated/memory regulatory T cell subset displayed more sharing with helper T cells, but was mainly recruited from the naive regulatory T cell population. These clonal patterns were very similar in both patients and controls. However, naive regulatory T cells isolated from the patients had a significantly longer T cell receptor complementarity-determining region 3 than any other population, suggesting failure of thymic selection. These data indicate that the peripheral differentiation of regulatory T cells in APS-1 patients is not different from that in healthy controls. Rather, the patients' naive regulatory T cells may have an intrinsic defect imprinted already in the thymus. [Mh] Termos MeSH primário: Poliendocrinopatias Autoimunes/imunologia Receptores de Antígenos de Linfócitos T/genética Subpopulações de Linfócitos T/fisiologia Linfócitos T Reguladores/fisiologia Timo/fisiologia [Mh] Termos MeSH secundário: Adulto Diferenciação Celular Seleção Clonal Mediada por Antígeno Células Clonais Feminino Fatores de Transcrição Forkhead/metabolismo Seres Humanos Memória Imunológica Ativação Linfocitária Contagem de Linfócitos Meia-Idade Análise de Sequência de DNA Fatores de Transcrição/genética [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (APECED protein); 0 (FOXP3 protein, human); 0 (Forkhead Transcription Factors); 0 (Receptors, Antigen, T-Cell); 0 (Transcription Factors) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171013 [Lr] Data última revisão: 171013 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170725 [St] Status: MEDLINE [do] DOI: 10.1111/sji.12586

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[PMID]: 28683959 [Au] Autor: Proust-Lemoine E; Guyot S [Ad] Endereço: Endocrinologie, polyclinique Aguilera, 21, rue de l'Estagnas, 64200 Biarritz, France. Electronic address: e.proustlemoine@yahoo.fr. [Ti] Título: [Oral diseases in auto-immune polyendocrine syndrome type 1]. [Ti] Título: Polyendocrinopathies auto-immunes de type 1 et pathologies buccales.. [So] Source: Presse Med;46(9):853-863, 2017 Sep. [Is] ISSN: 2213-0276 [Cp] País de publicação: France [La] Idioma: fre [Ab] Resumo: Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5 years old for canrdidiasis, and before 15 years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis. [Mh] Termos MeSH primário: Doenças da Boca/diagnóstico Poliendocrinopatias Autoimunes/diagnóstico Odontopatias/diagnóstico [Mh] Termos MeSH secundário: Adolescente Adulto Candidíase Bucal/diagnóstico Candidíase Bucal/genética Criança Pré-Escolar Análise Mutacional de DNA Hipoplasia do Esmalte Dentário/diagnóstico Hipoplasia do Esmalte Dentário/genética Diagnóstico Diferencial Genes Recessivos/genética Seres Humanos Lactente Doenças da Boca/genética Fenótipo Poliendocrinopatias Autoimunes/classificação Poliendocrinopatias Autoimunes/genética Odontopatias/genética Fatores de Transcrição/genética [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (APECED protein); 0 (Transcription Factors) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171013 [Lr] Data última revisão: 171013 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170708 [St] Status: MEDLINE

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[PMID]: 28609284 [Au] Autor: Saif A; Assem M [Ad] Endereço: . [Ti] Título: Premature ovarian failure could be an alarming sign of polyglandular autoimmune dysfunction. [So] Source: Endocr Regul;51(2):114-116, 2017 Apr 25. [Is] ISSN: 1210-0668 [Cp] País de publicação: Germany [La] Idioma: eng [Ab] Resumo: A 31-year-old lady, diagnosed to have premature ovarian failure in the gynecology clinic, was referred for endocrine assessment because of an abnormal thyroid function test. Clinical examination revealed hypotension, and fungal skin infection under her atrophic breasts. Thyroid stimulating hormone (TSH) level was very high. Assessment of the suprarenal function revealed evidence of Addison's disease. Polyglandular autoimmune dysfunction was diagnosed. She was treated with prednisone, fludrocortisone, and levothyroxine with significant improvement of her general condition and blood pressure. [Mh] Termos MeSH primário: Doença de Addison/diagnóstico Hipotireoidismo/diagnóstico Poliendocrinopatias Autoimunes/diagnóstico Insuficiência Ovariana Primária/diagnóstico [Mh] Termos MeSH secundário: Doença de Addison/tratamento farmacológico Doença de Addison/etiologia Adulto Candidíase Mucocutânea Crônica/diagnóstico Candidíase Mucocutânea Crônica/etiologia Feminino Fludrocortisona/uso terapêutico Glucocorticoides/uso terapêutico Terapia de Reposição Hormonal/métodos Seres Humanos Hipotensão/diagnóstico Hipotensão/etiologia Hipotireoidismo/sangue Hipotireoidismo/tratamento farmacológico Hipotireoidismo/etiologia Poliendocrinopatias Autoimunes/complicações Poliendocrinopatias Autoimunes/tratamento farmacológico Prednisona/uso terapêutico Insuficiência Ovariana Primária/etiologia Tireotropina/sangue Tiroxina/uso terapêutico [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Glucocorticoids); 9002-71-5 (Thyrotropin); Q51BO43MG4 (Thyroxine); U0476M545B (Fludrocortisone); VB0R961HZT (Prednisone) [Em] Mês de entrada: 1711 [Cu] Atualização por classe: 171103 [Lr] Data última revisão: 171103 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170614 [St] Status: MEDLINE

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[PMID]: 28502438 [Au] Autor: Watkins RD; Zawahir S [Ad] Endereço: Pediatric Gastroenterology & Nutrition, University of Maryland, 22 South Greene Street, N5W68, Baltimore, MD 21201, USA. Electronic address: rwatkins@peds.umaryland.edu. [Ti] Título: Celiac Disease and Nonceliac Gluten Sensitivity. [So] Source: Pediatr Clin North Am;64(3):563-576, 2017 Jun. [Is] ISSN: 1557-8240 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Gluten-related disorders include celiac disease (CD), wheat allergy, and nonceliac gluten sensitivity. CD is an autoimmune enteropathy caused by damage to small intestinal mucosa when gluten is ingested in genetically susceptible individuals. Currently, the only available treatment of CD is gluten-free diet. Several potential treatments are being researched. Wheat allergy is a hypersensitivity reaction caused by IgE-mediated and/or non-IgE-mediated immune response, and can involve the gastrointestinal tract, skin, or respiratory tract. Nonceliac gluten sensitivity is one of a variety of immunologic, morphologic, or symptomatic manifestations precipitated by ingestion of gluten in individuals in whom CD and wheat allergy are excluded. [Mh] Termos MeSH primário: Doença Celíaca/diagnóstico Dieta Livre de Glúten/métodos Poliendocrinopatias Autoimunes/diagnóstico Hipersensibilidade a Trigo/diagnóstico [Mh] Termos MeSH secundário: Doença Celíaca/terapia Feminino Glutens Seres Humanos Masculino Poliendocrinopatias Autoimunes/terapia Hipersensibilidade a Trigo/terapia [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 8002-80-0 (Glutens) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170713 [Lr] Data última revisão: 170713 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170516 [St] Status: MEDLINE

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[PMID]: 28407484 [Au] Autor: Zhu F; Willette-Brown J; Song NY; Lomada D; Song Y; Xue L; Gray Z; Zhao Z; Davis SR; Sun Z; Zhang P; Wu X; Zhan Q; Richie ER; Hu Y [Ad] Endereço: Cancer and Inflammation Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA. [Ti] Título: Autoreactive T Cells and Chronic Fungal Infection Drive Esophageal Carcinogenesis. [So] Source: Cell Host Microbe;21(4):478-493.e7, 2017 Apr 12. [Is] ISSN: 1934-6069 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Humans with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a T cell-driven autoimmune disease caused by impaired central tolerance, are susceptible to chronic fungal infection and esophageal squamous cell carcinoma (ESCC). However, the relationship between autoreactive T cells and chronic fungal infection in ESCC development remains unclear. We find that kinase-dead Ikkα knockin mice develop APECED-like phenotypes, including impaired central tolerance, autoreactive T cells, chronic fungal infection, and ESCCs expressing specific human ESCC markers. Using this model, we investigated the link between ESCC and fungal infection. Autoreactive CD4 T cells permit fungal infection and incite tissue injury and inflammation. Antifungal treatment or autoreactive CD4 T cell depletion rescues, whereas oral fungal administration promotes, ESCC development. Inhibition of inflammation or epidermal growth factor receptor (EGFR) activity decreases fungal burden. Fungal infection is highly associated with ESCCs in non-autoimmune human patients. Therefore, autoreactive T cells and chronic fungal infection, fostered by inflammation and epithelial injury, promote ESCC development. [Mh] Termos MeSH primário: Carcinoma de Células Escamosas/etiologia Carcinoma de Células Escamosas/patologia Neoplasias Esofágicas/etiologia Neoplasias Esofágicas/patologia Poliendocrinopatias Autoimunes/complicações [Mh] Termos MeSH secundário: Animais Autoimunidade Linfócitos T CD4-Positivos/imunologia Candidíase/complicações Carcinogênese Modelos Animais de Doenças Camundongos Receptor do Fator de Crescimento Epidérmico/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: EC 2.7.10.1 (EGFR protein, mouse); EC 2.7.10.1 (Receptor, Epidermal Growth Factor) [Em] Mês de entrada: 1704 [Cu] Atualização por classe: 170428 [Lr] Data última revisão: 170428 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170414 [St] Status: MEDLINE

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[PMID]: 28326749 [Au] Autor: Murakami R; Kawai T; Meguro S; Hayashi M; Itoh H [Ad] Endereço: Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan. [Ti] Título: A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance measured by oral glucose tolerance test. [So] Source: Neuro Endocrinol Lett;37(8):540-542, 2017 Jan. [Is] ISSN: 0172-780X [Cp] País de publicação: Sweden [La] Idioma: eng [Ab] Resumo: A 26-year-old Japanese woman presented with adrenal insufficiency, and treatment was started with cortisone and fludrocortisone in 1975. A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. She was found to have subacute thyroiditis and relative adrenal failure in 2006. Her condition remained stable under treatment with cortisone, fludrocortisone, levothyroxine, calcium lactate, precipitated calcium carbonate and alfacalcidol. While antibodies against pancreatic glutamic acid decarboxylase (GAD) were strongly positive (7,690 U/ml), fasting glucose level was 4.9 mmol/L and HbA1c was 6.3% on admission. As GAD antibody showed a high-titer of >10,000 U/ml and fasting plasma glucose level showed a rising trend, we performed 75-g oral glucose tolerance test (OGTT) 6 years after discharge. Whereas OGTT in 2012 showed impaired glucose tolerance, glucose tolerance had reverted to normal in 2014. A patient with a high-titer GAD antibody does not always have progressive glucose intolerance. GAD antibody positivity is common in not only type 1 diabetes, but also APS I and stiff-person syndrome (SPS). There are differences in recognized epitopes among the three disorders. Epitopes for GAD65 antibody associated with type 1 diabetes are located in the middle region and the COOH-terminal of the GAD65 protein, whereas epitopes associated with SPS reside in the NH2-terminal in addition to the middle region and COOH-terminal. The present case suggests that these differences in epitopes may be related to various pathogenic mechanisms including glucose intolerance. [Mh] Termos MeSH primário: Autoanticorpos/sangue Glutamato Descarboxilase/sangue Poliendocrinopatias Autoimunes/imunologia [Mh] Termos MeSH secundário: Adulto Glicemia/análise Epitopos/imunologia Feminino Teste de Tolerância a Glucose Seres Humanos Poliendocrinopatias Autoimunes/sangue Poliendocrinopatias Autoimunes/diagnóstico Rigidez Muscular Espasmódica/sangue Rigidez Muscular Espasmódica/diagnóstico [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Autoantibodies); 0 (Blood Glucose); 0 (Epitopes); EC 4.1.1.15 (Glutamate Decarboxylase) [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 170808 [Lr] Data última revisão: 170808 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170323 [St] Status: MEDLINE

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[PMID]: 28323927 [Au] Autor: Li D; Streeten EA; Chan A; Lwin W; Tian L; Pellegrino da Silva R; Kim CE; Anderson MS; Hakonarson H; Levine MA [Ad] Endereço: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104. [Ti] Título: Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. [So] Source: J Clin Endocrinol Metab;102(5):1726-1733, 2017 May 01. [Is] ISSN: 1945-7197 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. Objective: The objective of this study was to identify the underlying genetic basis for isolated HYPO in a kindred in which 3 of 10 siblings were affected. Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Methods: We collected clinical and biochemical data and performed whole exome sequencing analysis on DNA from the three affected subjects after negative genetic testing for known causes of HYPO. Results: Whole exome sequencing followed by Sanger sequencing revealed that all three affected subjects were compound heterozygous for two previously reported mutations, c.967_979delCTGTCCCCTCCGC:p.(L323SfsX51) and c.995+(3_5)delGAGinsTAT, in AIRE, which encodes the autoimmune regulator protein that is defective in autoimmune polyglandular syndrome type 1 (APS-1). Each parent carries one mutation, and all of the children of the patients are either heterozygous for one mutation or wild type. The affected sister developed premature ovarian failure, but the two affected brothers have no other features of APS-1 despite elevated serum levels of anti-interferon-α antibodies. Conclusions: Our findings indicate that biallelic mutations in AIRE can cause isolated HYPO as well as syndromic APS-1. The presence of antibodies to interferon-α provides a highly sensitive indicator for loss of AIRE function and represents a useful marker for isolated HYPO due to AIRE mutations. [Mh] Termos MeSH primário: Hipoparatireoidismo/congênito Insuficiência Ovariana Primária/genética Fatores de Transcrição/genética [Mh] Termos MeSH secundário: Feminino Heterozigoto Seres Humanos Hipoparatireoidismo/genética Masculino Meia-Idade Mutação Linhagem Poliendocrinopatias Autoimunes/genética Análise de Sequência de DNA Irmãos [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (APECED protein); 0 (Transcription Factors) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170911 [Lr] Data última revisão: 170911 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170322 [St] Status: MEDLINE [do] DOI: 10.1210/jc.2016-3836

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[PMID]: 28245453 [Au] Autor: Iguchi G; Bando H; Takahashi Y [Ti] Título: A Novel Clinical Entity of Autoimmune Endocrinopathy: Anti-PIT-1 Antibody Syndrome. [So] Source: Front Horm Res;48:76-83, 2017. [Is] ISSN: 1662-3762 [Cp] País de publicação: Switzerland [La] Idioma: eng [Ab] Resumo: Pituitary-specific transcription factor 1 (PIT-1; POU domain, class 1, transcription factor 1 (POU1F1)) is an essential transcription factor for the differentiation of somatotrophs, lactotrophs, and thyrotrophs, and for the expression of growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH). Mutations in PIT-1 cause congenital defects in GH and PRL secretion and severe TSH insufficiency. Anti-PIT-1 antibody syndrome, firstly reported in 2011, is characterized by acquired GH, PRL, and TSH deficiencies without PIT-1 mutation and is associated with the presence of the circulating antibody against PIT-1 protein as a marker. Various autoantibodies are detected with multiple endocrine organopathies in this syndrome; therefore, it meets the criteria of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes specifically reacting with PIT-1 protein play an important role in the development of this syndrome. [Mh] Termos MeSH primário: Autoanticorpos/imunologia Poliendocrinopatias Autoimunes/imunologia Fator de Transcrição Pit-1/imunologia [Mh] Termos MeSH secundário: Seres Humanos [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Autoantibodies); 0 (Transcription Factor Pit-1) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 171117 [Lr] Data última revisão: 171117 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170301 [St] Status: MEDLINE [do] DOI: 10.1159/000452907

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[PMID]: 28222032 [Au] Autor: Celmeli F; Kocabas A; Isik IA; Parlak M; Kisand K; Ceylaner S; Turkkahraman D [Ti] Título: Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome. [So] Source: J Pediatr Endocrinol Metab;30(3):365-369, 2017 Mar 01. [Is] ISSN: 2191-0251 [Cp] País de publicação: Germany [La] Idioma: eng [Ab] Resumo: Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p.R15H (c.44G>A) was found. In the clinical course of the patient, chronic liver disease due to autoimmune hepatitis has evolved resulting in hepatopulmonary syndrome (HPS) which has not been reported before in patients with APECED. [Mh] Termos MeSH primário: Biomarcadores/metabolismo Cianose/etiologia Síndrome Hepatopulmonar/complicações Mutação/genética Poliendocrinopatias Autoimunes/fisiopatologia Fatores de Transcrição/genética [Mh] Termos MeSH secundário: Adolescente Cianose/patologia Feminino Síndrome Hepatopulmonar/genética Homozigoto Seres Humanos Prognóstico [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (APECED protein); 0 (Biomarkers); 0 (Transcription Factors) [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 170822 [Lr] Data última revisão: 170822 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170222 [St] Status: MEDLINE

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