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

Shahin, T; Aschenbrenner, D; Cagdas, D; Bal, SK; Conde, CD; Garncarz, W; Medgyesi, D; Schwerd, T; Karaatmaca, B; Cetinkaya, PG; Twigg, SRF; Cant, A; Wilkie, AOM; Tezcan, I; Uhlig, HH; Boztug, K

Abstract:

Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in IL6ST encoding the GP130 receptor subunit (p.N404Y) has very recently been identified in a singleton patient (herein referred to as PN404Y) as a novel etiology of hyper-IgE syndrome. Here, we studied a patient with hyper-IgE syndrome c...

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APA Style

Shahin, T., Aschenbrenner, D., Cagdas, D., Bal, S. K., Conde, C. D., Garncarz, W., Medgyesi, D., Schwerd, T., Karaatmaca, B., Cetinkaya, P. G., Twigg, S. R. F., Cant, A., Wilkie, A. O. M., Tezcan, I., Uhlig, H. H., & Boztug, K. (2018). Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. Haematologica, 104(3), 609–621.

MLA Style

Shahin, T., et al. “Selective Loss of Function Variants in IL6ST Cause Hyper-IgE Syndrome with Distinct Impairments of T-Cell Phenotype and Function.” Haematologica, vol. 104, no. 3, Ferrata Storti Foundation, 2018, pp. 609–21.

Chicago Style

Shahin, T, D Aschenbrenner, D Cagdas, SK Bal, CD Conde, W Garncarz, D Medgyesi, et al. 2018. “Selective Loss of Function Variants in IL6ST Cause Hyper-IgE Syndrome with Distinct Impairments of T-Cell Phenotype and Function.” Haematologica 104 (3): 609–21.
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