research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research A Case of Systemic Mastocytosis: An Ultrastructural and Immunohistochemical Study of Dermal Mast Cells in Relation to Activation of the Epidermal Melanin Unit
Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.
research Metabolic Disease With Autoimmune Phenomena: Two Cases of SLE-Like Disease in Young Children Diagnosed With Lysinuric Protein Intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Refractory/Relapse Thrombocytopenia in a Patient With Evans' Syndrome Successfully Treated With Zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
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