FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

T313fsX169 1.5% No No No Multiple viral infections, failure to thrive. Died at 1 yr of age from parainfluenza virus. Pt. 1 c.1089_1103del15 p.W363C 31% No No No Multiple viral infections, failure to thrive. Died at 1 yr of age from parainfluenza virus. Pt. 2 c.1288C>T p.P430S 100% No No Yes Received BM transplant. Healthy, no recurrent infections, on s.c. gamma globulin therapy. Pt. 2 c.1465delC p.R489fsX61 18% No No Yes Received BM transplant. Healthy, no recurrent infections, on s.c. gamma globulin therapy. Pt. 3 c.1465delC p.R489fsX61 18% No No No Healthy, no recurrent infections. Pt. 4 c.1465delC p.R489fsX61 18% Yes No No Healthy, no recurrent infections. Pt. 5 724C>T p.P242S 95% No No No Developed S. aureus submandibular abscess in infancy; otherwise healthy. Pt. 6 958C>T p.R320W 2% No No No Healthy, no recurrent infections. Pt. 7 962A>G p.H321R 82% Yes Yes No Died in infancy from coronavirus encephalitis. Also had a heterozygous DOCK8 mutation. Pt. 8 982T>C p.C328R 16% No No No Healthy, no recurrent infections. Pt. 9 1075G>A p.E359K 63% No No No Healthy, no recurrent infections. Pt. 10 1201_1206del16 p.P401AfsX144 3% No No No Also had heterozygous DOCK8 and CHD7 mutations with no congenital anomalies. Pt. 11 1201_1206del16 p.P401AfsX144 3% No No No Healthy, no recurrent infections. Pt. 12 1201_1206del16 p.P401AfsX144 3% No No No Healthy, no recurrent infections. Received live virus vaccines. Pt. 13 1201_1206del16 p.P401AfsX144 3% No Yes No Healthy, no recurrent infections. Pt. 14 1201_1206del16 p.P401AfsX144 3% No No No Born prematurely due to maternal infection. Currently healthy with no recurrent infections. Pt. 15 1293delC p.P432fsX118 2% No No Yes Low numbers through ~3 mo when alternate therapy was given. Pt. 16 1418delC p.