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 …

Type I interferons (IFNs) play a central role in the immune defense against viral infections.
Type I IFN activation is induced by pattern-recognition receptors of the innate immune …

Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early
onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation …

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of
1,000,000 live births and has been associated with mutations in components of the …

Castleman disease (CD) describes a heterogeneous group of hematologic disorders that
share characteristic lymph node histopathology. Patients of all ages present with either a …

Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations
in CECR1. DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers …

Objective To describe the clinical features, genotype, and treatment in a series of subjects
with confirmed adenosine deaminase 2 (ADA2) deficiency. Methods All symptomatic …

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic
mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the …

Objective. To determine the genotype–phenotype association in patients with adenosine
deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations in CECR1 …

Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of
immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo …