APECED Whole Blood

APECED Whole Blood for Monogenic Immune Disorder and AIRE Research

Fresh APECED Whole Blood is collected from IRB-consented donors with clinically confirmed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Collected and shipped same-day in custom tubes and anticoagulants, these samples support genotyping, immune cell function work, and autoantibody analysis from a single draw.

Why Whole Blood for APECED Research

APECED, also called autoimmune polyendocrine syndrome type 1, is a monogenic disorder caused by biallelic loss-of-function variants in the AIRE gene. AIRE drives expression of tissue-restricted self antigens in the thymic medulla, so its loss breaks central tolerance and permits escape of self-reactive T cells. The resulting multi-organ autoimmunity is the downstream consequence of a defined genetic defect, and whole blood is the one specimen that carries genotype, cellular phenotype, and serology together.

• Genotype from the same draw — leukocyte genomic DNA supports AIRE sequencing and variant characterisation without a separate collection
• A defined clinical triad — chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency define the classical presentation, with additional endocrine and non-endocrine components accruing over time
• Neutralising anti-cytokine autoantibodies — autoantibodies against IL-17A, IL-17F, and IL-22 are a hallmark of APECED and provide the mechanistic explanation for the susceptibility to mucocutaneous candidiasis, linking a monogenic defect to a specific infectious phenotype
• Anti-interferon-omega autoantibodies — near-universal in APECED and highly characteristic of the condition, making the disease an informative natural model of anti-cytokine autoimmunity
• Organ-specific autoantibodies — reactivities associated with the individual endocrine components, including anti-21-hydroxylase in adrenal insufficiency, can be profiled alongside the anti-cytokine repertoire
• Intact cellular compartments — whole blood preserves granulocytes and absolute leukocyte counts that PBMC isolation removes, which matters for a disease defined in part by impaired antifungal immunity

Donor Stratification Available

• Genotype status — genetically confirmed AIRE variant versus clinically diagnosed, where documented
• Component disease profile — presence of hypoparathyroidism, adrenal insufficiency, candidiasis, and additional endocrine or ectodermal features
• Anti-cytokine autoantibody status — anti-IL-17, anti-IL-22, and anti-interferon-omega reactivity where measured
• Organ-specific autoantibody profile — where tested and available
• Age at onset and disease duration — component onset sequence where recorded
• Treatment status — hormone replacement, antifungal therapy, or immunomodulatory treatment
• Matched healthy controls available — demographically matched healthy donor whole blood

Product Features

• Fresh APECED whole blood from clinically diagnosed APECED donors
• Custom tubes and anticoagulants available
• Collected and shipped same-day for maximum freshness
• Standard and custom volumes
• Research Use Only (RUO)

De-identified Donor Data

• Confirmed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) diagnosis by physician or specialist
• Demographic details: age, sex assigned at birth, ethnicity
• Medical history including allergies and infectious disease status
• Component disease profile, genotype, and autoantibody status available on request

Applications

• AIRE variant detection, genotyping, and genotype–phenotype correlation
• Anti-cytokine autoantibody detection and functional neutralisation assays
• Central tolerance and thymic selection mechanism research
• Immunophenotyping of T, B, and innate cell populations
• Antifungal immunity and IL-17 pathway research
• Gene expression and transcriptomic analysis
• Inflammatory marker and cytokine profiling
• Drug response and mechanism-of-action studies

Other APECED Specimen Types

Matched material from the same APECED donor pool is available as APECED serum, plasma, and PBMC. Related endocrine autoimmunity cohorts include type 1 diabetes whole blood and Graves’ disease whole blood.

Compliance and Quality Assurance

• IRB-approved protocols and electronic informed consent
• HIPAA-compliant data management
• Fast shipping with real-time tracking

Ordering & Customization

APECED whole blood is available in a range of standard and custom volumes. For pricing, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To browse the full specimen range and healthy-donor controls, see our human whole blood collection.