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hrp0098p1-292 | Thyroid 3 | ESPE2024

Congenital autoimmune thyreoiditis with hypothyroidism: first expression of a STAT-3-associated multisystemic disease with further severe autoimmune manifestations

Ververidou Ourania , Lainka Elke , Kampmann Kristina , Steindor Nora , Schäfer Miriam , Manka Eva , Korsch Eckhard , Kiewert Cordula

Introduction: Gain-of-function mutations in the STAT-3-Gene are associated with multisystemic autoimmune disease. The spectrum of disorders described in this context is highly variable and includes lymphoproliferative disease and (poly-) autoimmune endocrinopathies.Case History: A three-year-old boy was admitted with acute liver failure of unknown cause, necessitating a liver transplant. His medical history included cong...

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Congenital autoimmune thyreoiditis with hypothyroidism: first expression of a STAT-3-associated multisystemic disease with further severe autoimmune manifestations

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