Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Schmitz EG, Paul AJ, Ghosh R, Saucier N, Kolicheski A, Risma SI, McDaniels KP, Liu M, Lewis KL, de Jesus AA, Alehashemi S, Fronick CC, Stein D, Dominguez D, Hiraki LT, Lee JH, Norman S, Peng CR, Ward BR, Pettiford LH, Platt A, Lawrence MG, Rocco JM, Al-Herz W, Zerbe CS, Atkinson TP, Peng XP, Allenspach EJ, Hoytema van Konijnenburg DP, Platt CD, Elkins M, Walter JE, Bleesing JJ, Klion A, Ramaswami R, Uzel G, Lionakis MS, Dissanayake D, Su HC, Cortese I, Fuss IJ, Bergerson JRE, Dropulic L, Sereti I, Lisco A, Itan Y, Milner JD, Bogunovic D, Goldbach-Mansky R, Rao VK, Delmonte OM, Notarangelo LD, Keller MD, Durkee-Shock J, Cohen JI, Similuk MN, Holland SM, Griffith M, Griffith OL, Vogel TP, Canna S, Freeman AF, Walkiewicz MA, Cooper MA.
Schmitz EG, et al.
J Allergy Clin Immunol. 2026 May;157(5):1179-1194. doi: 10.1016/j.jaci.2026.01.023. Epub 2026 Feb 5.
J Allergy Clin Immunol. 2026.
PMID: 41654260
Free PMC article.
Genes with mosaicism in >1 affected undiagnosed patients included FAS, STAT3, CARD11, CARD14, NRAS, TNFAIP3, NLRP3, and IKZF2. Four patients had variants in FAS with allele fractions <5% in blood but highly enriched in double-negative T cells, diagnostic for somatic …
Genes with mosaicism in >1 affected undiagnosed patients included FAS, STAT3, CARD11, CARD14, NRAS, TNFAIP3, NLRP3, and IKZF2. Fou …