STAT5B deficiency due to a novel missense mutation in the coiled-coil domain.

Meghan J Acres,Florian Gothe,Angela Grainger,Andrew J Skelton,David J Swan,Joseph D P Willet,Suzy Leech,Sonya Galcheva,Violeta Iotova,Sophie Hambleton,Karin R Engelhardt

The Journal of allergy and clinical immunology（2019）

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摘要

A novel homozygous missense mutation in the coiled-coil domain of STAT5B causes an immunodeficiency syndrome characterised by short stature due to GH insensitivity, immune dysregulation and hypothyroidism but currently without pulmonary disease or T-cell lymphopenia.

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关键词

GH insensitivity,IGF-I deficiency,STAT5B deficiency,alopecia,autoimmunity,eczema,growth failure,hypothyroidism,immune dysregulation

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