Rare diseases · Sign or symptom
Autoimmune antibody positivity
HP:0030057
What it means
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Rare diseases that can present with this28
Very common80–99%
8- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Drug-induced lupus erythematosus
- Immune-mediated necrotizing myopathy
- Insulin autoimmune syndrome
- Neonatal lupus erythematosus
- Neuromyelitis optica spectrum disorder
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- Refractory celiac disease
Common30–79%
11- American trypanosomiasis
- Autoimmune hypoparathyroidism
- Autoimmune polyendocrinopathy type 3
- Autoimmune polyendocrinopathy type 4
- Autoimmune pulmonary alveolar proteinosis
- Bickerstaff brainstem encephalitis
- Cancer-associated retinopathy
- IgA pemphigus
- Inflammatory pseudotumor of the liver
- Lymphoid interstitial pneumonia
- Stiff person spectrum disorder
Sometimes5–29%
6The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 17 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.