Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

Oftedal, Bergithe E.; Wolff, Anette S. B.; Bratland, Eirik; Kämpe, Olle; Perheentupa, Jaakko; Myhre, Anne Grethe; Meager, Anthony; Purushothaman, Radhika; Ten, Svetlana; Husebye, Eystein S.

doi:10.1016/j.clim.2008.07.002

Cited by 79 publications

(62 citation statements)

References 29 publications

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“…Detection of anti-interferon autoantibodies (against interferon-ω, to be specific) is a new diagnostic option that has recently been suggested [26,27,28]. It is a promising alternative test that could also be valuable and more cost-effective in the near future compared to the genetics approach.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

et al. 2010

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Background: Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis of APS-1 during early stages is often challenging. Aim: We aimed to provide clinical and mutational data for a large number of APS-1 patients in the Russian population. Methods: We analyzed clinical variations and component prevalence in APS-1 patients. DNA screening for autoimmune regulator (AIRE) gene mutations was performed in established APS-1 patients and in patients with the single components of chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, or alopecia. Results: We identified 46 patients from 42 families with APS-1. Eighteen different components were present in the patients, including very rare conditions – bone dysplasia and retinitis pigmentosa. We identified 10 different mutations, 3 of which were novel (M1T, E298K, c1053_1060del). The common Finnish mutation, R257X, was the most frequent in our population, present in 64/92 (70%) of the alleles. Conclusion: We found that the R257X AIRE mutation is common in Russian APS-1 patients. The majority of children with hypoparathyroidism and chronic mucocutaneous candidiasis were carriers of the AIRE mutations.

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Section: Discussionmentioning

confidence: 99%

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

et al. 2010

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“…В дальнейшем проводились многочисленные работы по изучению АТ к ИФН-α и -ω, и было до-казано, что они являются высокоспецифичными и высокочувствительными маркерами АПС 1 [9,[11][12][13][14].…”

Section: сведения об авторахunclassified

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)

Sozaeva

Karmanov

Breivik

et al. 2015

Probl Endokrinol (Mosk)

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This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ωantibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.

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“…Autoantibodies against organ-specific autoantigens: 21-hydroxylase (21OH; !48), 17a-hydroxylase (17OH; !102), side-chain cleavage enzyme (SCC; !184), glutamic acid decarboxylase 65 (!122), tryptophan hydroxylase (!84), tyrosine hydroxylase (TH; !103), protein tyrosine phosphatase (!77), NALP5 (23), aromatic L-amino acid decarboxylase (!89), and interferon u (!200) were measured using RIA based on the proteins expressed by in vitro transcription and translation (28,29). We also measured antibodies against; nucleus (anti-nuclear antibodies (ANA), indirect immunofluorescence (IIF); !32) performed on a human epithelial-2 cell substrate, and if positive ANA against double-stranded DNA (ELISA); anti-smooth muscle (ASM; !20), mitochondria (IIF, !20); parietal cells (IIF, pos 1:20); thyroid peroxidase (TPO, a modified ELISA; 1-99 IU/ml); islet cells antibodies (IIF, !4); intrinsic factor (0.0-5.9 U/ml); thyroglobulin (Tg) (ELISA) (1-99 IU/ml); tissue transglutaminase (IgA, ELISA; 0.0-4.9 U/ml), and thyroid-stimulating antibodies (TSAb; 1.0-2.0 IU/l), and rheumatoid factor (RF; latex IgA) an antibody against the Fc portion of IgG (1-8 AU/ml).…”

Section: Antibody Assaysmentioning

confidence: 99%

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

Lima

Abrahamsen

Wolff

et al. 2011

European Journal of Endocrinology

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Objective: To characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 DS). Design: In this nationwide survey; 59 patients (age 1-54 years) out of 86 invited with a 22q11.2 DS were recruited through all the genetic institutes in Norway. Methods: Data was collected from blood tests, medical records, a physical examination and a semistructured interview. We registered autoimmune diseases and measured autoantibodies, hormone levels and HLA types. Results: Twenty-eight (47%) patients had hypoparathyroidism or a history of neonatal or transient hypocalcemia. Fifteen patients had neonatal hypocalcemia. Fourteen patients had permanent hypoparathyroidism including seven (54%) of those above age 15 years. A history of neonatal hypocalcemia did not predict later occurring hypoparathyroidism. Parathyroid hormone levels were generally low indicating a low reserve capacity. Twenty-eight patients were positive for autoantibodies. Six (10%) persons had developed an autoimmune disease, and all were females (P!0.02). Hypoparathyroidism correlated with autoimmune diseases (P!0.05), however, no antibodies were detected against the parathyroid glands. Conclusions: Hypoparathyroidism and autoimmunity occur frequently in the 22q11.2 DS. Neonatal hypocalcemia is not associated with later development of permanent hypoparathyroidism. Hypoparathyroidism may present at any age, also in adults, and warrants regular measurement of calcium levels. Hypoparathyroidism and autoimmunity occur frequently together. Our findings of autoimmune diseases in 10% of the patients highlight the importance of stringent screening and follow-up routines.

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Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

Cited by 79 publications

References 29 publications

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

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