T. Shahin

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.

J. Orange, Yu Nee Lee, J. Franco, 2019, Blood.

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

F. Rieux-Laucat, S. Tangye, M. Haimel, 2021, Blood advances.

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

M. Varjosalo, S. Rosenzweig, N. Rezaei, 2021, Science Immunology.

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

C. Cunningham-Rundles, W. Gahl, T. Fleisher, 2020, Blood.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Kenneth G. C. Smith, S. Tavaré, M. Brown, 2019, The Journal of experimental medicine.

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

I. Tezcan, S. Twigg, A. Wilkie, 2018, Haematologica.