Living with STAT3-related early-onset multisystem autoimmune disease
A rare genetic immune condition with early infections, enlarged organs, and autoimmune problems.
Understanding STAT3-related early-onset multisystem autoimmune disease
People often have repeated infections, swollen lymph nodes, and an enlarged liver and spleen. The immune system may attack the body's own tissues, causing a range of autoimmune problems such as low blood cell counts, bowel problems, diabetes, arthritis, and skin and lung issues. Slow growth is common. Signs often begin in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Autoimmune low red or white blood cells and platelets
- Enlarged liver and spleen
- Eczema
- Celiac disease or other bowel problems
- Problems digesting food (pancreatic enzymes)
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists, blood and bone marrow specialists and cancer specialists.
- 3Consider genetic testing
Changes in STAT3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Cancer specialists (oncologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the STAT3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: autoimmune disease, multisystem, infantile-onset, 1; signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with STAT3-related early-onset multisystem autoimmune disease.
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