Detalhe da pesquisa
1.
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Blood
; 143(24): 2504-2516, 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
2.
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
J Clin Immunol
; 44(5): 105, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676773
3.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
J Allergy Clin Immunol
; 151(4): 1081-1095, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228738
4.
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 43(2): 247-270, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648576
5.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
J Clin Immunol
; 43(8): 2192-2207, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837580
6.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845957
7.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
J Allergy Clin Immunol
; 149(1): 410-421.e7, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033842
8.
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.
Ann Hematol
; 101(3): 469-484, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35059842
9.
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
J Clin Immunol
; 40(7): 1026-1037, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803625
10.
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface.
Clin Immunol
; 201: 15-19, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30742970
11.
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation.
J Clin Immunol
; 44(6): 134, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787482
12.
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 44(2): 53, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38252398
13.
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
J Allergy Clin Immunol
; 141(3): 1036-1049.e5, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29241729
14.
Isolated Full Donor T-Cell Chimerism After Haploidentical TCRαß/CD19 Depleted HSCT Maintains Remission of Familial HLH.
J Clin Immunol
; 44(1): 22, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129595
15.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Blood
; 128(2): 227-38, 2016 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27099149
16.
The evolution of cellular deficiency in GATA2 mutation.
Blood
; 123(6): 863-74, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24345756
17.
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection.
Transfusion
; 61(5): 1657-1659, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682137
18.
ICON: the early diagnosis of congenital immunodeficiencies.
J Clin Immunol
; 34(4): 398-424, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24619621
19.
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression.
Haematologica
; 104(7): e322-e325, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073074
20.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
J Allergy Clin Immunol
; 131(6): 1611-23, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23534974