IL6ST and Congenital thrombocytopenia: In mouse models, a complete deficiency of gp130 is lethal at the embryonic stage, while complete IL6ST LOF in humans results in the lethal Stüve-Wiedemann syndrome, defined by neonatal lung dysfunction, defective acute-phase response, skeletal dysplasia, renal abnormalities, atopic dermatitis, and congenital thrombocytopenia (81).