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

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. (Source: Journal of Allergy and Clinical Immunology)

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