Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations

F Saettini; G Fazio; P Corti; M Quadri; C Bugarin; G Gaipa; F Penco; D Moratto; M Chiarini; M Baronio; L Gazzurelli; L Imberti; S Paghera; S Giliani; G Cazzaniga; A Plebani; R Badolato; V Lougaris; M Gattorno; A Biondi

doi:10.1016/j.clim.2020.108525

Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations

F Saettini, G Fazio, P Corti, M Quadri, C Bugarin, G Gaipa, F Penco, D Moratto, M Chiarini, M Baronio, L Gazzurelli, L Imberti, S Paghera, S Giliani, G Cazzaniga, A Plebani, R Badolato, V Lougaris, M Gattorno, A Biondi

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.

Original language	English
Pages (from-to)	108525
Journal	Clin. Immunol.
Volume	218
DOIs	https://doi.org/10.1016/j.clim.2020.108525
Publication status	Published - Sep 2020

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Saettini, F., Fazio, G., Corti, P., Quadri, M., Bugarin, C., Gaipa, G., Penco, F., Moratto, D., Chiarini, M., Baronio, M., Gazzurelli, L., Imberti, L., Paghera, S., Giliani, S., Cazzaniga, G., Plebani, A., Badolato, R., Lougaris, V., Gattorno, M., & Biondi, A. (2020). Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations. Clin. Immunol., 218, 108525. https://doi.org/10.1016/j.clim.2020.108525

Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations. / Saettini, F; Fazio, G; Corti, P; Quadri, M; Bugarin, C; Gaipa, G; Penco, F; Moratto, D; Chiarini, M; Baronio, M; Gazzurelli, L; Imberti, L; Paghera, S; Giliani, S; Cazzaniga, G; Plebani, A; Badolato, R; Lougaris, V; Gattorno, M; Biondi, A.

In: Clin. Immunol., Vol. 218, 09.2020, p. 108525.

Research output: Contribution to journal › Article › peer-review

Saettini, F, Fazio, G, Corti, P, Quadri, M, Bugarin, C, Gaipa, G, Penco, F, Moratto, D, Chiarini, M, Baronio, M, Gazzurelli, L, Imberti, L, Paghera, S, Giliani, S, Cazzaniga, G, Plebani, A, Badolato, R, Lougaris, V, Gattorno, M & Biondi, A 2020, 'Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations', Clin. Immunol., vol. 218, pp. 108525. https://doi.org/10.1016/j.clim.2020.108525

Saettini, F ; Fazio, G ; Corti, P ; Quadri, M ; Bugarin, C ; Gaipa, G ; Penco, F ; Moratto, D ; Chiarini, M ; Baronio, M ; Gazzurelli, L ; Imberti, L ; Paghera, S ; Giliani, S ; Cazzaniga, G ; Plebani, A ; Badolato, R ; Lougaris, V ; Gattorno, M ; Biondi, A. / Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations. In: Clin. Immunol. 2020 ; Vol. 218. pp. 108525.

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abstract = "The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.",

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AU - Corti, P

AU - Quadri, M

AU - Bugarin, C

AU - Gaipa, G

AU - Penco, F

AU - Moratto, D

AU - Chiarini, M

AU - Baronio, M

AU - Gazzurelli, L

AU - Imberti, L

AU - Paghera, S

AU - Giliani, S

AU - Cazzaniga, G

AU - Plebani, A

AU - Badolato, R

AU - Lougaris, V

AU - Gattorno, M

AU - Biondi, A

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AB - The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.

U2 - 10.1016/j.clim.2020.108525

DO - 10.1016/j.clim.2020.108525

M3 - Article

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