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

Access to Document

10.1016/j.clim.2020.108525

Cite this

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.

@article{706dc0ce10e64021a8ae437e9e69d804,

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

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.",

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

year = "2020",

month = sep,

doi = "10.1016/j.clim.2020.108525",

language = "English",

volume = "218",

pages = "108525",

journal = "Clin. Immunol.",

issn = "1521-6616",

publisher = "Academic Press Inc.",

}

TY - JOUR

T1 - Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations

AU - Saettini, F

AU - Fazio, G

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

PY - 2020/9

Y1 - 2020/9

N2 - 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.

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

C2 - 32659374

VL - 218

SP - 108525

JO - Clin. Immunol.

JF - Clin. Immunol.

SN - 1521-6616

ER -

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

Abstract

Access to Document

Fingerprint

Cite this