Dual novel variants in CD40 leading to hyper IgM syndrome: a case report of a school-aged female with new-onset recurrent pneumonia

Ioannidis N.M., Rothstein J.H., Pejaver V., Middha S., McDonnell S.K., Baheti S., Musolf A., Li Q., Holzinger E., Karyadi D., Cannon-Albright L.A., Teerlink C.C., Stanford J.L., Isaacs W.B., Xu J., Cooney K.A., Lange E.M., Schleutker J., Carpten J.D., Powell I.J., Cussenot O., Cancel-Tassin G., Giles G.G., MacInnis R.J., Maier C., Hsieh C.-L., Wiklund F., Catalona W.J., Foulkes W.D., Mandal D., Eeles R.A., Kote-Jarai Z., Bustamante C.D., Schaid D.J., Hastie T., Ostrander E.A., Bailey-Wilson J.E., Radivojac P., Thibodeau S.N., Whittemore A.S., and Sieh W. 2016. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am. J. Hum. Genet. 99: 877–885.

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