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Rheumatology (Oxford, England)|April 28, 2021
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disordersLeonardo Oliveira Mendonça, Caterina Matucci-Cerinic, Paola Terranova, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 26, 2024
Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three CasesStefano Volpi, Maria L Angelotti, Giulia Palazzini, et al.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 GeneMaurizio Miano, Nadia Bertola, Alice Grossi, et al.
Frontiers in Immunology|April 28, 2022
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?Micaela Gentile, Maurizio Miano, Paola Terranova, et al.
British Journal of Haematology|July 17, 2019
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 geneMaurizio Miano, Enrico Cappelli, Agnese Pezzulla, et al.
European Journal of Immunology|July 25, 2020
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patientsFrancesca Schena, Federica Penco, Stefano Volpi, et al.
The Journal of Experimental Medicine|February 27, 2025
The common HAQ STING allele prevents clinical penetrance of COPA syndromeNoa Simchoni, Shogo Koide, Maryel Likhite, et al.
Journal of Clinical Immunology|November 16, 2021
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis LocusAnnemarie Steiner, Thomas Reygaerts, Alessandra Pontillo, et al.
Hemasphere|February 27, 2023
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?Elena Palmisani, Maurizio Miano, Alice Grossi, et al.
Annals of the Rheumatic Diseases|May 20, 2017
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national studyRoberta Caorsi, Federica Penco, Alice Grossi, et al.
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