APECED Serum

About APECED Serum

APECED Serum for Monogenic Autoimmunity and Central Tolerance Research

Our APECED Serum is sourced from IRB-consented donors clinically diagnosed with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, also known as APS-1). Each sample is processed and frozen within 24 hours of collection to preserve cytokines, autoantibodies, hormones, and other labile analytes. APECED is a monogenic disease caused by biallelic loss-of-function variants in AIRE, which breaks thymic central tolerance and thereby drives multi-organ autoimmunity — making these donors an unusually informative human model for tolerance biology.

Why APECED Serum

• Monogenic cause, autoimmune consequence: biallelic AIRE loss of function impairs thymic presentation of tissue-restricted antigens, allowing autoreactive T cells to escape negative selection and driving organ-specific autoimmunity.
• Neutralising anti-cytokine autoantibodies: high-titre neutralising autoantibodies against interferon-omega and interferon-alpha are near-universal in APECED and are effectively diagnostic. Serum is the standard matrix for detecting and titrating them.
• Anti-IL-17 and anti-IL-22 autoantibodies are associated with chronic mucocutaneous candidiasis, linking a specific humoral autoimmune target to a clinical phenotype.
• Organ-specific autoantibodies track the classic triad and its extensions: 21-hydroxylase autoantibodies in adrenal insufficiency, NALP5 autoantibodies in hypoparathyroidism, and additional targets across thyroid, gonadal, gastric, and hepatic involvement.
• Endocrine analytes: serum supports parallel measurement of calcium, parathyroid hormone, cortisol, ACTH, and thyroid function markers alongside autoantibody testing.
• Rare-disease access: APECED is very rare, and clinically confirmed donor serum is difficult to obtain outside of specialist registries.

Donor Stratification Available

• AIRE genotype where available
• Classic triad status: hypoparathyroidism, adrenal insufficiency, chronic mucocutaneous candidiasis — individually or in combination
• Additional component autoimmunity: type 1 diabetes, autoimmune thyroid disease, autoimmune hepatitis, gonadal failure, autoimmune gastritis or pernicious anaemia
• Ectodermal features: enamel hypoplasia, nail dystrophy, alopecia, vitiligo
• Treatment status: hormone replacement, antifungal therapy, immunosuppressive or immunomodulatory therapy
• Age at onset and paediatric versus adult donors
• Matched healthy controls available

Product Features

• Collected from clinically confirmed Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) donors
• Research Use Only (RUO)
• Processed and frozen within 24 hours of collection
• IRB-approved protocols with documented consent
• Custom aliquot volumes available upon request

De-identified Donor Data

• Diagnosis confirmation
• AIRE genotype where available
• Age, sex assigned at birth, and race/ethnicity
• Donor-reported medications, allergy and infectious disease history, and comorbidities
• Additional APECED-specific metadata available on request

Applications

• Anti-interferon-omega and anti-interferon-alpha autoantibody detection, titration, and neutralisation assays
• Anti-IL-17 and anti-IL-22 autoantibody profiling in relation to mucocutaneous candidiasis
• Organ-specific autoantibody screening (21-hydroxylase, NALP5, and others)
• Autoantibody array and proteomic autoantigen discovery
• Serum cytokine and inflammation profiling
• Endocrine biomarker studies across adrenal, parathyroid, and thyroid axes
• Central tolerance and AIRE biology research, including comparison with polygenic autoimmune cohorts
• Assay development, diagnostic validation, and therapeutic candidate screening

Other APECED Specimen Types

APECED donor material is also available as APECED plasma, APECED PBMC, and APECED whole blood. If you need an APECED leukopak or another apheresis-derived cell product, we can arrange a custom collection — see our human leukopak page for specifications and current availability.

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11 – compliant e-signatures
• Documentation support available for regulatory review

Ordering & Customization

APECED serum is available in standard and custom volumes. For pricing, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. For the full specimen range, see our human serum collection.