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STAT3-related early-onset multisystem autoimmune disease

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Disease definition

A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.

ORPHA:438159

Classification level: Disorder

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant

Age of onset: Childhood, Infancy

ICD-10: M35.8

OMIM: 615952

UMLS: C4014795

A summary on this disease is available in Français (2019) Español (2019) Deutsch (2019) Italiano (2019) Nederlands (2019)
Detailed information
Guidelines
Clinical practice guidelines

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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