List of works - Amanda K. Ombrello

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

scientific article

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

scientific article published on 22 January 2018

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

scientific article published on 29 June 2020

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

scientific article

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

scientific article published on 23 May 2017

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

scientific article published on 08 July 2020

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

scientific article published on 23 April 2019

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

scientific article published on 21 August 2018

Early-onset stroke and vasculopathy associated with mutations in ADA2

scientific article

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

scientific article published on 7 December 2015

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

scientific article published on 17 September 2014

Treatment Strategies for Deficiency of Adenosine Deaminase 2

scientific article published on 01 April 2019

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20

scientific article published on 25 November 2019

List of works by Amanda K. Ombrello

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

Early-onset stroke and vasculopathy associated with mutations in ADA2

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

Treatment Strategies for Deficiency of Adenosine Deaminase 2

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20