Human ADA2 Deficiency: Ten Years Later
M Wouters, L Ehlers, M Dzhus, V Kienapfel… - Current Allergy and …, 2024 - Springer
Abstract Purpose of Review In this review, an update is provided on the current knowledge
and pending questions about human adenosine deaminase type 2 deficiency. Patients have …
and pending questions about human adenosine deaminase type 2 deficiency. Patients have …
Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus
R Goldbach-Mansky, S Alehashemi… - Nature Reviews …, 2024 - nature.com
Over the past two decades, the number of genetically defined autoinflammatory
interferonopathies has steadily increased. Aicardi–Goutières syndrome and proteasome …
interferonopathies has steadily increased. Aicardi–Goutières syndrome and proteasome …
Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data
L Yan, X Sun, B Lou, Y Zhang, D Zhuang, J Jia… - Clinical …, 2024 - Elsevier
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory
disease characterised by early onset stroke, recurrent fever, and diverse vascular …
disease characterised by early onset stroke, recurrent fever, and diverse vascular …
Features of hyperinflammation link the biology of EBV infection and cytokine storm syndromes
M Liu, KE Brodeur, JR Bledsoe, CN Harris… - Journal of Allergy and …, 2024 - Elsevier
Background Overt immune activation by viral infections can lead to cytokine storm
syndromes, such as hemophagocytic lymphohistiocytosis (HLH) and macrophage activation …
syndromes, such as hemophagocytic lymphohistiocytosis (HLH) and macrophage activation …
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
M Wouters, L Ehlers, W Van Eynde, ME Kars… - medRxiv, 2024 - medrxiv.org
Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical
phenotype which encompasses vasculopathy including livedo racemosa and lacunar …
phenotype which encompasses vasculopathy including livedo racemosa and lacunar …
Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2
L Ehlers, A Hombrouck, M Wouters, B Pillay… - bioRxiv, 2023 - biorxiv.org
Pathogenic variants in ADA2 underlie human deficiency of adenosine deaminase 2
(DADA2) and lead to impaired ADA2 protein secretion and reduced deaminase activity. Yet …
(DADA2) and lead to impaired ADA2 protein secretion and reduced deaminase activity. Yet …
Deficiency of adenosine deaminase 2: a genetic autoinflammatory disorder mimicking childhood polyarteritis nodosa
S Mhatre, M Muranjan, S Karande… - … Case Reports CP, 2024 - casereports.bmj.com
A girl in the early adolescent age group presented with multisystem manifestations in the
form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the …
form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the …