Novel mutation in PIK3CD affecting the Ras-binding domain

Coulter T.I., Chandra A., Bacon C.M., Babar J., Curtis J., Screaton N., Goodlad J.R., Farmer G., Steele C.L., Leahy T.R., Doffinger R., Baxendale H., Bernatoniene J., Edgar J.D.M., Longhurst H.J., Ehl S., Speckmann C., Grimbacher B., Sediva A., Milota T., Faust S.N., Williams A.P., Hayman G., Kucuk Z.Y., Hague R., French P., Brooker R., Forsyth P., Herriot R., Cancrini C., Palma P., Ariganello P., Conlon N., Feighery C., Gavin P.J., Jones A., Imai K., Ibrahim M.A.A., Markelj G., Abinun M., Rieux-Laucat F., Latour S., Pellier I., Fischer A., Touzot F., Casanova J.-L., Durandy A., Burns S.O., Savic S., Kumararatne D.S., Moshous D., Kracker S., Vanhaesebroeck B., Okkenhaug K., Picard C., Nejentsev S., Condliffe A.M., and Cant A.J. 2017. Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: A large patient cohort study. J. Allergy Clin. Immunol. 139: 597–606.e4.

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