Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl

Kollios, Konstantinos; Tsolaki, Anastasia; Antachopoulos, Charalampos; Moix, I.; Morris, Michael A.; Papadopoulou, Maria S.; Roilides, Emmanuel

doi:10.1515/jpem.2011.012

Cited by 6 publications

(6 citation statements)

References 12 publications

(13 reference statements)

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“…Table 2 illustrates study characteristics for Ns-HypoPT studies (Humphreys, 1939; Hansted and Holst, 1952; Hinrichs, 1956; Thew and Goulston, 1962; Pisanty, 1966; Sjöberg, 1966; Greenberg et al, 1969; Hermans et al, 1969; Moshkowitz et al, 1969; Riley, 1969; Nally, 1970; Frensilli et al, 1971; Lovestedt, 1971; Assif, 1977; Pisanty and Garfunkel, 1977; Myllärniemi and Perheentupa, 1978; Lindeberg, 1979; Goepferd and Flaitz, 1981; Illum et al, 1981; Jensen et al, 1981; Nikiforuk and Fraser, 1981; Børglum Jensen et al, 1983; Harrell, 1983; Ingemarsson, 1984; Lyles et al, 1985; de Carvalho et al, 1986; Porter and Scully, 1986; Ahonen et al, 1990; Porter et al, 1992, 1995; Walls and Soames, 1993; Hershkovitz et al, 1995; Lukinmaa et al, 1996; Firth et al, 1997; Jaquez et al, 1997; Perniola et al, 1998; Fukui et al, 2000; Winer and Merke, 2000; Klingberg et al, 2002, 2005, 2007; Al-Malik, 2004; López-Jornet et al, 2005; Oberoi and Vargervik, 2005; Yang et al, 2005; da Silva Dalben et al, 2008; McGovern et al, 2008; Kelly et al, 2009; Pavlic and Waltimo-Siren, 2009; Toka et al, 2010; Wasersprung et al, 2010; Heliövaara et al, 2011; Kollios et al, 2011; Oberoi et al, 2011; Nordgarden et al, 2012; Ponranjini et al, 2012; El Batawi, 2013; Kamarthi et al, 2013; Nortjé, 2013; Ali et al, 2014; Srirangarajan et al, 2014; Laccetta et al, 2015; Matthews-Brzozowska et al, 2015; Bruserud et al, 2016; Ferre et al, 2016; Bjanid et al, 2017; Lewyllie et al, 2017; Mohsenipour et al, 2017) with subgroups A–E corresponding to the classifi...…”

Section: Resultsmentioning

confidence: 99%

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

et al. 2018

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Background: Dental aberrations have been mentioned in relation to non-surgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP). However, a systematic review of dental characteristics have not been performed. The present systematic review describes the dental findings in patients with Ns-HypoPT and PHP.Methods: Studies on Ns-HypoPT and PHP reporting dental features were eligible. A systematic literature search was conducted using four bibliographic databases (Web of Science, Scopus, Pubmed, and Embase) and was limited to studies written in English. Reviews, meta-analyses and letters were excluded. Both the research and reporting of results were based on PRISMA (preferred Reporting Items for Systematic Reviews and Meta-Analysis) guidelines.Results: Of 88 studies included, nine were cross-sectional, one was a prospective cohort study, 26 were case series, and 52 were case reports. The most frequently reported findings in patients with Ns-HypoPT were enamel opacities, enamel hypoplasia, hypodontia, and eruption disturbances. In patients with PHP, enamel hypoplasia, eruption disturbance, and deviation of the root morphology were the most frequently reported findings.Conclusion: An association between enamel hypoplasia and Ns-HypoPT and PHP is likely. The results should, however, be interpreted cautiously due to the limited number of high-quality studies. The present review confirms the need of further well-designed studies, such as large-scale studies, e.g., multicenter studies, to conclude on the reported associations between Ns-HypoPT/PHP and enamel hypoplasia.

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Section: Resultsmentioning

confidence: 99%

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

et al. 2018

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“…(C) APECED, also known as autoimmune polyglandular syndrome type 1 (APS1), is an autosomal recessive disorder with a highly variable clinical phenotype. [477][478][479][480] A high prevalence has been identified in 3 ethnic groups, Sardinians, Finns, and Iranian Jews, although lower prevalence can be found in multiple other ethnic groups. Candidiasis is commonly seen in most patients but is rare in Iranian Jews carrying the Y85C mutation.…”

Section: Diseases Of Immune Dysregulationmentioning

confidence: 99%

“…(C) APECED (APS1) is caused by a mutation in the gene AIRE. [477][478][479][480] More than 60 AIRE mutations have been reported and often cluster by population group. There are some correlates between mutation and clinical presentation (eg, the lower incidence of candidiasis among Iranian Jews with the Y85C mutation), but the structure-function correlation is not well established for most of the features of the disease.…”

Section: Diseases Of Immune Dysregulationmentioning

confidence: 99%

Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

571

494

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The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion.

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“…Finally, sequencing of AIRE revealed a homozygous missense mutation (c.47C>T, p.Thr16Met) that has been previously described in patients of Russian (31) and Greek (32) origin, and is predicted to be pathogenic according to bioinformatics tools. This is a common mutation in the Israeli Christian-Arab population, known as a founder mutation.…”

Section: Discussionmentioning

confidence: 82%

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

et al. 2021

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them. Limited awareness among pediatricians of autoimmune enteropathy (AIE) caused by destruction of the gut endocrine cells in APECED patients delays diagnosis and appropriate therapy. We describe an 18-year-old female presenting at the age of 6.10 years with hypoparathyroidism, oral candidiasis and vitiligo. The clinical diagnosis of APECED was confirmed by sequencing the autoimmune regulator-encoding (AIRE) gene. Several characteristics of the disease—Hashimoto’s thyroiditis, Addison’s disease, diabetes mellitus type 1 and primary ovarian insufficiency—developed over the years. She had recurrent episodes of severe intractable hypocalcemia. Extensive GI investigations for possible malabsorption, including laboratory analyses, imaging and endoscopy with biopsies were unremarkable. Revision of the biopsies and chromogranin A (CgA) immunostaining demonstrated complete loss of enteroendocrine cells in the duodenum and small intestine, confirming the diagnosis of AIE. Management of hypocalcemia was challenging. Only intravenous calcitriol maintained calcium in the normal range. Between hypocalcemic episodes, the proband maintained normal calcium levels, suggesting a fluctuating disease course. Repeated intestinal biopsy revealed positive intestinal CgA immunostaining. The attribution of severe hypocalcemic episodes to AIE emphasizes the need for increased awareness of this unique presentation of APECED. The fluctuating disease course and repeated intestinal biopsy showing positive CgA immunostaining support a reversible effect of GI involvement. CgA immunostaining is indicated in patients with APECED for whom all other investigations have failed to reveal an explanation for the malabsorption.

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl

Cited by 6 publications

References 12 publications

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

Practice parameter for the diagnosis and management of primary immunodeficiency

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

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