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List of works by Alice Grossi

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

scientific article

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

scientific article published on 18 May 2017

ADA2 deficiency due to a novel structural variation in 22q11.1.

scientific article published on 28 March 2019

Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases

scientific article

B cells characterization in ADA2 Deficiency patients.

scientific article published on 28 September 2015

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

scientific article published in January 2017

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene

scientific article published on 15 July 2019

High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).

scientific article published on 2 September 2017

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

scientific article published on 17 September 2015

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report

scientific article published on 23 August 2019

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.

scientific article

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

scientific article published on 2 November 2017

Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS).

scientific article published on 28 September 2015

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab

scientific article published on 08 July 2019

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