Juvenile idiopathic arthritis

A Martini, DJ Lovell, S Albani, HI Brunner… - Nature Reviews …, 2022 - nature.com
Juvenile idiopathic arthritis (JIA) is an umbrella term for arthritis of unknown origin, lasting
for> 6 weeks with onset before 16 years of age. JIA is the most common chronic …

Management of stroke in neonates and children: a scientific statement from the American Heart Association/American Stroke Association

DM Ferriero, HJ Fullerton, TJ Bernard, L Billinghurst… - Stroke, 2019 - Am Heart Assoc
Purpose—Much has transpired since the last scientific statement on pediatric stroke was
published 10 years ago. Although stroke has long been recognized as an adult health …

Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment

I Meyts, I Aksentijevich - Journal of clinical immunology, 2018 - Springer
Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …

Medium-and large-vessel vasculitis

D Saadoun, M Vautier, P Cacoub - Circulation, 2021 - Am Heart Assoc
Systemic vasculitides are multisystem blood vessel disorders, which are defined by the size
of the vessel predominantly affected, namely small, medium, or large vessels. The term …

Treatment strategies for deficiency of adenosine deaminase 2

AK Ombrello, J Qin, PM Hoffmann… - … England Journal of …, 2019 - Mass Medical Soc
Adenosine Deaminase 2 Deficiency and TNF Inhibition The manifestations of a deficiency of
adenosine deaminase 2, a genetic disease, include early-onset lacunar stroke. In a series of …

Childhood stroke

PB Sporns, HJ Fullerton, S Lee, H Kim, WD Lo… - Nature Reviews …, 2022 - nature.com
Stroke is an important cause of neurological morbidity in children; most survivors have
permanent neurological deficits that affect the remainder of their life. Stroke in childhood, the …

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

PY Lee, ES Kellner, Y Huang, E Furutani… - Journal of allergy and …, 2020 - Elsevier
Background Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic
manifestations including vasculitis and hematologic compromise. A systematic definition of …

The spectrum of the deficiency of adenosine deaminase 2: an observational analysis of a 60 patient cohort

KS Barron, I Aksentijevich, NT Deuitch… - Frontiers in …, 2022 - frontiersin.org
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited
disease that has undergone extensive phenotypic expansion since being first described in …

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

C Carmona-Rivera, SS Khaznadar… - Blood, The Journal …, 2019 - ashpublications.org
Reduction of adenosine deaminase 2 (ADA2) activity due to autosomal-recessive loss-of-
function mutations in the ADA2 gene (previously known as CECR1) results in a systemic …

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

H Hashem, AR Kumar, I Müller, F Babor… - Blood, The Journal …, 2017 - ashpublications.org
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations
in CECR1. DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers …