Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p |
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| Authors: | Armando Grossi Alessia Palma Ginevra Zanni Antonio Novelli Sara Loddo Marco Cappa Alessandra Fierabracci |
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| Affiliation: | 1. Division of Endocrinology, Bambino Gesù Children''s Hospital IRCCS, Rome, Italy;2. Immunology Area, Bambino Gesù Children''s Hospital IRCCS, Rome, Italy;3. Unit of Molecular Medicine, Bambino Gesù Children''s Hospital IRCCS, Rome, Italy;4. Cytogenetic Laboratory, Institute CSS Mendel, Rome, Italy |
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| Abstract: | Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients. |
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| Keywords: | AIED, autoimmune inner ear disease ANA, antinuclear antibodies AIRE, autoimmune regulator gene Abs, antibodies ACTH, adrenocorticotropic hormone APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome arr, rearrangement AT, annealing temperature AU, alopecia universalis B, basophils (white blood cells) BMD, body mineral density bp, base pair(s) ° C, degree Celsius CD, celiac disease CD25, cluster differentiation 25 ChAS, Chromosome Analysis Suite software CXCR7, chemokine orphan receptor 1 gene der, derivative chromosome DEXA, dual energy X-ray absorptiometry dl, deciliter DNA, deoxyribonucleic acid E, eosinophils (white blood cells) FSH, follicle-stimulating hormone FOXP3, forkhead box P3 FT4, free thyroxine GADA, anti-glutamic acid decarboxylase isoform 65 autoantibodies g/dl, gram in deciliter GH, growth hormone Hb, hemoglobin HbA1c, glycated hemoglobin hg, human genome HT, Hashimoto's thyroiditis ICA-IgG, islet cell antibodies (immunoglobulin G) ID, identification IFN ω, interferon ω IGF1, insulin-like growth factor 1 IL-2, interleukin 2 IL2RA, interleukin 2 receptor, alpha chain precursor/CD25 IL15RA, interleukin 15 receptor, alpha isoform 2 IVGTT, intravenous glucose tolerance test L, lymphocytes (white blood cells) LH, luteinizing hormone M, monocytes (white blood cells) Mb, megabytes mcU/ml, microunits per milliliter mg/24 h, milligrams in 24 hours ml, milliliter MRI, magnetic resonance imaging μl, microliter N, neutrophils (white blood cells) neg, negative ng/ml, nanograms per milliliter nr, normal range OMIM, Online Mendelian Inheritance in Man p, short arm of chromosome PCR, polymerase chain reaction PDCD1, programmed cell death 1 precursor pg, picogram pg/ml, picograms per milliliter pter, terminal part of chromosome short arm PTH, parathyroid hormone PLT, platelets PTPN22, protein tyrosine phosphatase non receptor type 22 POF, premature ovarian failure pos, positive q, longer arm of chromosome RBC, red blood cells rs, single reference SNP SD, standard deviation SNHL, sensorineural hearing loss SNP, single nucleotide polymorphism T1D, Type 1 diabetes TG, thyroglobulin TPO, thyroperoxidase TRAF3IP1, TNF (tumor necrosis factor) receptor-associated factor 3 interacting Tregs, T regulatory cells TRG, transglutaminase TS, Turner syndrome TSH, thyroid stimulating hormone UCSC, University of California Santa Cruz Genome Browser UrCa, urinary calcium UrCr, urinary creatinine UrCr/UrCa, urinary creatinine/calcium ratio WBC, white blood cells |
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