AATD and Autoimmune Diseases
A research lens on inflammation, neutrophils, and Alpha-1
By Mark Egly Foundation
Research status: Investigational / hypothesis
Last reviewed: July 26, 2026
Research hypothesis. Links between Alpha-1 Antitrypsin Deficiency (AATD), low circulating Alpha-1 Antitrypsin (AAT), and autoimmune disease described here reflect Mark Egly's 2020 patent filing. They are not established medical fact and are not medical advice. Always talk with your doctor about your own health.
A distinctive foundation focus
Many organizations educate the public about AATD lung and liver disease. The Mark Egly Foundation also highlights a broader research question: whether low AAT or AATD relates to a large set of autoimmune and inflammatory conditions named in Mark's patent.
Our disease catalog includes roughly 150 autoimmune related entries you can filter by category. This hub explains the framing, how to navigate those pages, and which high search topics to open first.
What is established about AATD
AATD is a genetic condition that can damage lungs and liver when protective AAT is missing or misfolded. Classic symptoms and treatments are covered on:
- What is Alpha-1 Antitrypsin Deficiency
- Symptoms
- COPD and emphysema
- Medications and treatments
- Related conditions
Established AATD care does not automatically extend to every autoimmune diagnosis. Treat the sections below as research education unless your clinician says otherwise.
What the patent proposes
The patent discusses excess neutrophils and neutrophil elastase (NE) as drivers of tissue injury when AAT is insufficient. It suggests that some autoimmune diagnoses may coincide with low AAT even without classic AATD genotypes, and that identifying low AAT could inform care. That proposal is investigational.
In plain language, the research question is: if the body cannot restrain destructive neutrophil enzymes, could that contribute to inflammatory disease beyond the lungs and liver? Mark Egly's filing answers "possibly" for many named conditions. Independent clinical validation is still required.
High interest autoimmune topics
People searching autoimmune disease names often land on rheumatoid arthritis, lupus, and related inflammatory diagnoses. Start with enriched catalog pages, then browse the full autoimmune filter:
- Rheumatoid arthritis
- Lupus
- Celiac disease
- Sjogren's syndrome
- Crohn's disease
- Ulcerative colitis
- Multiple sclerosis (also listed under neurological overlap)
Open the Diseases index and select the Autoimmune filter to browse the wider directory.
How to read each disease page
Every disease page offers:
- A layperson view for patients and families
- A professional view for clinicians
- Clear hypothesis labeling for patent derived claims
- Links back to established AATD testing and treatment education
If a page discusses lung or liver findings, treat those AATD facts as established. Treat autoimmune causation claims as hypothesis unless your specialty guidance says otherwise.
For patients and families
If you live with an autoimmune diagnosis and also have unexplained lung or liver disease, or relatives with AATD, ask your care team about AAT testing. Use our self-check as an education starting point only. It is not a diagnosis.
Questions worth bringing to a visit:
- Could my lung or liver findings warrant an AAT level?
- Does anyone in my family have early emphysema, COPD, or AATD?
- Which specialist should coordinate testing results?
For clinicians
See AATD diagnosis and testing, genetic testing for COPD, and Uniting Doctors for network and specialty outreach. Keep autoimmune patent claims separated from guideline directed rheumatology and immunology care.
Support the work
Independent research and education depend on community support. Ways to give lists donation options for rare disease and medical research funding. Our impact summarizes how gifts advance awareness and research goals.
Sources and references
References checked July 26, 2026
- Alpha-1 antitrypsin deficiency (MedlinePlus Genetics (NIH))Research status: Established clinical knowledge
- Alpha-1 Foundation clinical and patient education resources (Alpha-1 Foundation)Research status: Established clinical knowledge
- American Thoracic Society / European Respiratory Society statements on lung disease (locate current AATD guidance) (American Thoracic Society)Research status: Established clinical knowledgeUse the current ATS/ERS AATD statements applicable to your practice.
- Method of Preventing and/or Treating a Plurality of Diseases (Mark Egly patent disclosure summary) (Mark Egly Foundation patent overview)Research status: Investigational / hypothesisPrimary source for Mark Egly research hypotheses. Not peer-reviewed clinical evidence. Confirm USPTO application number with counsel before citing externally.
Educational content only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.