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MARK EGLY

AATD and Autoimmune Diseases

A research lens on inflammation, neutrophils, and Alpha-1

By Mark Egly Foundation

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 and how to navigate those pages.

What is established

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 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.

Browse autoimmune conditions

Open the Diseases index and select the Autoimmune filter. Examples include:

Each page has a layperson view and a professional view, plus clear hypothesis labeling.

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.

For clinicians

See AATD diagnosis and testing and Uniting Doctors for network and specialty outreach.

Support the work

Independent research and education depend on community support. Ways to give lists donation options for rare disease and medical research funding.