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Lista de obras de 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.

artículo científico publicado en 2015

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.

artículo científico publicado en 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

artículo científico publicado en 2014

B cells characterization in ADA2 Deficiency patients.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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