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

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

16 Scopus citations

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
Article number	108525
Journal	Clinical Immunology
Volume	218
DOIs	https://doi.org/10.1016/j.clim.2020.108525
State	Published - Sep 2020
Externally published	Yes

Keywords

ADA2 deficiency
DADA2
Hypogammaglobulinemia
Large granular lymphocytes
Lymphopenia
Lymphoproliferation
T-cell repertoire

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10.1016/j.clim.2020.108525

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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. Clinical Immunology, 218, Article 108525. https://doi.org/10.1016/j.clim.2020.108525

@article{6bd8101ce51e4ab1926863b575376f87,

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.",

keywords = "ADA2 deficiency, DADA2, Hypogammaglobulinemia, Large granular lymphocytes, Lymphopenia, Lymphoproliferation, T-cell repertoire",

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",

note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2020",

month = sep,

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

language = "English",

volume = "218",

journal = "Clinical Immunology",

issn = "1521-6616",

publisher = "Academic Press Inc.",

}

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', Clinical Immunology, vol. 218, 108525. https://doi.org/10.1016/j.clim.2020.108525

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.

KW - ADA2 deficiency

KW - DADA2

KW - Hypogammaglobulinemia

KW - Large granular lymphocytes

KW - Lymphopenia

KW - Lymphoproliferation

KW - T-cell repertoire

UR - http://www.scopus.com/inward/record.url?scp=85087892248&partnerID=8YFLogxK

U2 - 10.1016/j.clim.2020.108525

DO - 10.1016/j.clim.2020.108525

M3 - Letter

C2 - 32659374

AN - SCOPUS:85087892248

SN - 1521-6616

VL - 218

JO - Clinical Immunology

JF - Clinical Immunology

M1 - 108525

ER -

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

Abstract

Keywords

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