Log in

Relevant bibliographies by topics / Dada2 / Journal articles

To see the other types of publications on this topic, follow the link: Dada2.

Journal articles on the topic 'Dada2'

Author: Grafiati

Published: 10 December 2022

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Dada2.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Muratoglu, Selen, Sofia Georgieva, Gábor Pápai, et al. "Two Different Drosophila ADA2 Homologues Are Present in Distinct GCN5 Histone Acetyltransferase-Containing Complexes." Molecular and Cellular Biology 23, no. 1 (2003): 306–21. http://dx.doi.org/10.1128/mcb.23.1.306-321.2003.

Full text

Abstract:

ABSTRACT We have isolated a novel Drosophila (d) gene coding for two distinct proteins via alternative splicing: a homologue of the yeast adaptor protein ADA2, dADA2a, and a subunit of RNA polymerase II (Pol II), dRPB4. Moreover, we have identified another gene in the Drosophila genome encoding a second ADA2 homologue (dADA2b). The two dADA2 homologues, as well as many putative ADA2 homologues from different species, all contain, in addition to the ZZ and SANT domains, several evolutionarily conserved domains. The dada2a/rpb4 and dada2b genes are differentially expressed at various stages of D

APA, Harvard, Vancouver, ISO, and other styles

2

Kozlova, A. L., Z. A. Nesterenko, K. K. Egorova, et al. "THE MANY FACES OF AUTOINFLAMMATION: ADENOSINE DEAMINASE 2 (DADA2) DEFICIENCY IN A 12 YEAR OLD." Pediatria. Journal named after G.N. Speransky 100, no. 2 (2021): 246–53. http://dx.doi.org/10.24110/0031-403x-2021-100-2-246-253.

Full text

Abstract:

This article is dedicated to one of the auto-respiratory syndromes – adenosine deaminase deficiency 2 (deficiency of adenosine deaminase 2 – DADA2) in the 12-year-old. This rare disease is caused by mutations in the ADA2 gene (CECR1), that encodes the ADA2 protein. Clinical manifestations of DADA2 are very diverse and usually include systemic inflammatory reaction in the form of fever attacts, vasculopathy in the form of livedo reticulum, polyarteritis nodosa, ischemic and/or hemorrhagic strokes, as well as signs of immunodeficiency with hypogammaglobulinemia and bone marrow failure. Complex p

APA, Harvard, Vancouver, ISO, and other styles

3

Hassanzadeh, Shakiba, Mohammad Bahadoram, and Karim Mowla. "Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa." Rheumatology 61, no. 1 (2023): 45–54. http://dx.doi.org/10.5114/reum.2023.124878.

Full text

Abstract:

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. DADA2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatm

APA, Harvard, Vancouver, ISO, and other styles

4

Alabbas, Fahad, Ghaleb Elyamany, Omar Alsharif, Michael Hershfield, and Isabelle Meyts. "Childhood Hodgkin Lymphoma: Think DADA2." Journal of Clinical Immunology 39, no. 1 (2019): 26–29. http://dx.doi.org/10.1007/s10875-019-0590-7.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Collison, Joanna. "Stem cell transplantation for DADA2." Nature Reviews Rheumatology 13, no. 12 (2017): 694. http://dx.doi.org/10.1038/nrrheum.2017.175.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Lee, Pui Y., Brad A. Davidson, Roshini S. Abraham, et al. "Evaluation and Management of Deficiency of Adenosine Deaminase 2." JAMA Network Open 6, no. 5 (2023): e2315894. http://dx.doi.org/10.1001/jamanetworkopen.2023.15894.

Full text

Abstract:

ImportanceDeficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and adults. DADA2 is among the more common monogenic autoinflammatory diseases, with an estimate of more than 35 000 cases worldwide, but currently, there are no guidelines for diagnostic evaluation or management.ObjectiveTo review the available evidence and develop multidisciplinary consensus statements for the evaluation and management of DADA2.Evidence ReviewThe DADA2 Consensus

APA, Harvard, Vancouver, ISO, and other styles

7

Özen, Seza, Ezgi Deniz Batu, Ekim Z. Taşkıran, et al. "A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2." Journal of Rheumatology 47, no. 1 (2019): 117–25. http://dx.doi.org/10.3899/jrheum.181384.

Full text

Abstract:

Objective.Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.Methods.This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments of Hacettepe University. All ADA2 exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method.Re

APA, Harvard, Vancouver, ISO, and other styles

8

Kaya Akca, U., E. Sag, Ş. Ünal, M. Kasap-Cuceoglu, Y. Bilginer, and S. Özen. "OP0168 THE ROLE OF VASCULAR INFLAMMATION MARKERS IN DEFICIENCY OF ADENOSINE DEAMINASE 2." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 100.1–101. http://dx.doi.org/10.1136/annrheumdis-2021-eular.2504.

Full text

Abstract:

Background:Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease whose pathogenesis has not been clearly elucidated.Objectives:To investigate the role of vascular inflammatory factors in the pathogenesis of DADA2, to compare the vascular inflammation profiles of DADA2 patients with different phenotypes, and to compare DADA2 patients with classic polyarteritis nodosa (PAN).Methods:The study included eighteen DADA2 patients, ten PAN patients, and eight healthy controls. Plasma levels of sST2, sRAGE, Tie-2, sCD40L, Tie-1, sFlt-1, LIGHT, TNF-α, PlGF, IL-6, IL-18, IL-1

APA, Harvard, Vancouver, ISO, and other styles

9

Arts, Katrijn, Jenna R. E. Bergerson, Amanda K. Ombrello, et al. "Warts and DADA2: a Mere Coincidence?" Journal of Clinical Immunology 38, no. 8 (2018): 836–43. http://dx.doi.org/10.1007/s10875-018-0565-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Watanabe, Naoki, Shouguo Gao, Sachiko Kajigaya, et al. "Analysis of Deficiency of Adenosine Deaminase 2 Pathogenesis Based on Single Cell RNA Sequencing of Monocytes." Blood 134, Supplement_1 (2019): 2317. http://dx.doi.org/10.1182/blood-2019-123859.

Full text

Abstract:

Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function mutations in the ADA2 gene. DADA2 typically presents in childhood and is characterized by vasculopathy, stroke, inflammation, and immunodeficiency as well as hematologic manifestations, such as bone marrow failure and lymphoproliferation. The ADA2 protein is predominantly expressed in stimulated monocytes, dendritic cells and macrophages. ADA2 increases in the setting of inflammation and/or infection conditions. ADA2 has been reported to have a critical role in maintaining the balance b

APA, Harvard, Vancouver, ISO, and other styles

11

Carmona-Rivera, Carmelo, Sami S. Khaznadar, Kyawt W. Shwin, et al. "Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2." Blood 134, no. 4 (2019): 395–406. http://dx.doi.org/10.1182/blood.2018892752.

Full text

Abstract:

Abstract 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 vasculitis known as deficiency of ADA2 (DADA2). Neutrophils and a subset of neutrophils known as low-density granulocytes (LDGs) have been implicated in the pathogenesis of vasculitis, at least in part, through the formation of neutrophil extracellular traps (NETs). The study objective was to determine whether neutrophils and NETs play a pathogenic role in DADA2. In vivo evidence demonstrated NETs and macrophages in

APA, Harvard, Vancouver, ISO, and other styles

12

Bica, P. F., C. Matucci-Cerinic, E. Hysa, et al. "AB1437 NAILFOLD CAPILLAROSCOPY IN DEFICIENCY OF ADENOSINE DEAMINASE 2 (DADA2): A CASE-CONTROL STUDY." Annals of the Rheumatic Diseases 82, Suppl 1 (2023): 1946.3–1947. http://dx.doi.org/10.1136/annrheumdis-2023-eular.5400.

Full text

Abstract:

BackgroundDeficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease characterized by the presence of systemic inflammation, vasculitis, early-onset stroke, and hematologic manifestations such as cytopenia and immunodeficiency. Mucocutaneous and peripheral microvascular manifestations, such as livedo racemosa, cutaneous ulcers and Raynaud’s phenomenon (RP), can occur, in up to 50%, 22% and 8 % of DADA2 patients respectively [1].ObjectivesTo investigate the microvascular architecture in nailfold capillaries of DADA2 patients comparing them with adequate healthy con

APA, Harvard, Vancouver, ISO, and other styles

13

Yap, Jin Yan, Leen Moens, Ming-Wei Lin, et al. "Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency." Journal of Clinical Immunology 41, no. 8 (2021): 1915–35. http://dx.doi.org/10.1007/s10875-021-01141-0.

Full text

Abstract:

Abstract Purpose Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes. Methods In-depth immunophenotyping

APA, Harvard, Vancouver, ISO, and other styles

14

Hashem, Hasan, Ashish R. Kumar, Ingo Müller, et al. "Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2." Blood 130, no. 24 (2017): 2682–88. http://dx.doi.org/10.1182/blood-2017-07-798660.

Full text

Abstract:

Key Points HSCT represents an effective and definitive treatment of DADA2. HSCT can cure the immunological, hematological, and vascular phenotype of DADA2 with 100% survival at median follow-up of 18 months.

APA, Harvard, Vancouver, ISO, and other styles

15

Lee, Pui Y. "NETing the mechanism of inflammation in DADA2." Blood 134, no. 4 (2019): 338–39. http://dx.doi.org/10.1182/blood.2019001251.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Wang, W., T. Zhang, L. Wang, and H. Song. "FRI0472 DIAGNOSIS AND MANAGEMENT OF ADENOSINE DEAMINASE 2 DEFICIENCY CHILDREN: THE EXPERIENCE FROM CHINA." Annals of the Rheumatic Diseases 79, Suppl 1 (2020): 833.1–833. http://dx.doi.org/10.1136/annrheumdis-2020-eular.3481.

Full text

Abstract:

Background:Adenosine deaminase 2 deficiency (DADA2) is a rare antoinflammatory disease caused by mutations in ADA2 gene, few Chinese cases have been reported.Objectives:To describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and foreign cases.Methods:Primary immunodeficiency disease Panel or Whole Exome Sequencing was performed to suspected subjects, and assays for adenosine deaminase 2(ADA2) enzyme activity were also carried out to them and their parents. Case reports of Chinese and foreign patients with DADA2 were searched from PubMed and Chinese do

APA, Harvard, Vancouver, ISO, and other styles

17

Santo, Gustavo C., Inês Baldeiras, Rita Guerreiro, et al. "Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon’s Syndrome of Unknown Cause." Cerebrovascular Diseases 46, no. 5-6 (2018): 257–64. http://dx.doi.org/10.1159/000495794.

Full text

Abstract:

Background: The association that exists between livedo reticularis (LR) and stroke is known as Sneddon’s syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DADA2), characterized by recurrent fevers and vascular pathologic features that included LR and stroke. All the patients carried recessively inherited mutations in cat eye syndrome chrom

APA, Harvard, Vancouver, ISO, and other styles

18

Barnes, Christopher J., Linett Rasmussen, Maria Asplund, et al. "Comparing DADA2 and OTU clustering approaches in studying the bacterial communities of atopic dermatitis." Journal of Medical Microbiology 69, no. 11 (2020): 1293–302. http://dx.doi.org/10.1099/jmm.0.001256.

Full text

Abstract:

Introduction. The pathogenesis of atopic dermatitis (AD) is not yet fully understood, but the bacterial composition of AD patients’ skin has been shown to have an increased abundance of Staphylococcus aureus . More recently, coagulase-negative Staphylococcus (CoNS) species were shown to be able to inhibit S. aureus , but further studies are required to determine the effects of Staphylococcus community variation in AD. Aim. Here we investigated whether analysing metabarcoding data with the more recently developed DADA2 approach improves metabarcoding analyses compared to the previously used ope

APA, Harvard, Vancouver, ISO, and other styles

19

Alabbas, Fahad, Omar Alsharief, Isabelle Meyts, et al. "Deficiency of Adenosine Deaminase 2 (DADA2) Presenting As Familial Hodgkin Lymphoma." Blood 132, Supplement 1 (2018): 5373. http://dx.doi.org/10.1182/blood-2018-99-116431.

Full text

Abstract:

Abstract Familial Hodgkin Lymphoma (HL) accounts for 4.5% of HL. Both genetic susceptibility and shared environmental factors can play a role. The usual presentation of HL is cervical lymphadenopathy/ mediastinal mass. Subdiaphragmatic presentation is rare and hepatosplenomegaly is associated with advanced HL. Adenosine deaminase 2 (ADA2) act as an outside extracellular growth factor for integrity of endothelial cells and in the development of certain immune cells. Deficiency of ADA2 (DADA2) is a recently described inborn error of immunity caused by biallelic mutations in adenosine deaminase 2

APA, Harvard, Vancouver, ISO, and other styles

20

Lee, Seo-Young, Yeuni Yu, Jin Chung, and Hee Sam Na. "Trimming conditions for DADA2 analysis in QIIME2 platform." International Journal of Oral Biology 46, no. 3 (2021): 146–53. http://dx.doi.org/10.11620/ijob.2021.46.3.146.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Agajany, Netta, Liran Horev, Netanel Agajany, and Gilad Kenan. "Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation." Neurology Genetics 9, no. 5 (2023): e200097. http://dx.doi.org/10.1212/nxg.0000000000200097.

Full text

Abstract:

ObjectivesDeficiency of adenosine deaminase 2 (DADA2) is a rare, recessively inherited autoinflammatory disease with a wide clinical spectrum of manifestations, including strokes and vasculitis.MethodsWe report a case of a patient with DADA2 who presented with neurologic manifestations.ResultsA 42-year-old woman with a known diagnosis of polyarteritis nodosa experienced several episodes of TIAs. Neuroimaging revealed 2 aneurysms in unusual locations. Her young age, ethnic origin, absent of cardiovascular risk factors, and skin involvement raised the suspicion of DADA2. Genetic testing confirme

APA, Harvard, Vancouver, ISO, and other styles

22

Schwartz, Daniella Muallem, Moses M. Kitakule, Brian LP Dizon, et al. "Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features." Annals of the Rheumatic Diseases 80, no. 6 (2021): 788–95. http://dx.doi.org/10.1136/annrheumdis-2020-219137.

Full text

Abstract:

Background Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these mutations on allergic inflammation are unknown. Objectives We investigated allergic, immunological and clinical phenotypes in FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor-associated periodic syndrome), HIDS (hyper-IgD syndrome), PAPA (pyogenic arthritis, pyoderma gangrenosum and acne), DADA2 (deficiency of adenosine deaminase 2), HA20 (haploinsufficiency of A20), CANDLE (chronic atypical neutrophil

APA, Harvard, Vancouver, ISO, and other styles

23

Zoccolillo, Matteo, Immacolata Brigida, Federica Barzaghi, et al. "Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency." Blood Advances 5, no. 16 (2021): 3174–87. http://dx.doi.org/10.1182/bloodadvances.2020003811.

Full text

Abstract:

Abstract Adenosine deaminase 2 deficiency (DADA2) is a rare inherited disorder that is caused by autosomal recessive mutations in the ADA2 gene. Clinical manifestations include early-onset lacunar strokes, vasculitis/vasculopathy, systemic inflammation, immunodeficiency, and hematologic defects. Anti–tumor necrosis factor therapy reduces strokes and systemic inflammation. Allogeneic hematopoietic stem/progenitor cell (HSPC) transplantation can ameliorate most disease manifestations, but patients are at risk for complications. Autologous HSPC gene therapy may be an alternative curative option f

APA, Harvard, Vancouver, ISO, and other styles

24

Pardinhas, Clara, Gustavo Santo, Luís Escada, et al. "A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges." Case Reports in Nephrology and Dialysis 11, no. 3 (2021): 340–47. http://dx.doi.org/10.1159/000517141.

Full text

Abstract:

Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and thought to have clinical features of systemic polyarteritis nodosum, which negatively influenced its outcome, since TNF inhibitors seem to have efficacy on the vasculitic phenotype of DADA2. We present a case of a 28-year-old woman with a lifelong unknown syndrome and unique clinical manifestations recent

APA, Harvard, Vancouver, ISO, and other styles

25

Balažiová, Barbora, Gabriela Hrčková, Veronika Dobšinská, and Tomáš Dallos. "Deficiency of adenosine deaminase type 2 (DADA2): clinical picture, diagnosis and treatment." Vnitřní lékařství 70, no. 4 (2024): 233–40. http://dx.doi.org/10.36290/vnl.2024.046.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Kasap Cuceoglu, Muserref, Seher Sener, Ezgi Deniz Batu, et al. "Systematic review of childhood-onset polyarteritis nodosa and DADA2." Seminars in Arthritis and Rheumatism 51, no. 3 (2021): 559–64. http://dx.doi.org/10.1016/j.semarthrit.2021.04.009.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

Callahan, Benjamin J., Paul J. McMurdie, Michael J. Rosen, Andrew W. Han, Amy Jo A. Johnson, and Susan P. Holmes. "DADA2: High-resolution sample inference from Illumina amplicon data." Nature Methods 13, no. 7 (2016): 581–83. http://dx.doi.org/10.1038/nmeth.3869.

Full text

APA, Harvard, Vancouver, ISO, and other styles

28

Michniacki, Thomas F., Mark Hannibal, Charles W. Ross, et al. "Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure." Journal of Clinical Immunology 38, no. 2 (2018): 166–73. http://dx.doi.org/10.1007/s10875-018-0480-4.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Vai, Silvia, Erika Marin, Roberta Cosso, et al. "A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype." International Journal of Molecular Sciences 22, no. 15 (2021): 8331. http://dx.doi.org/10.3390/ijms22158331.

Full text

Abstract:

Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the ADA2/CECR1 gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early childhood age. DADA2 syndrome encompasses pleiotropic manifestations such as stroke, systemic vasculitis, hematologic alterations, and immunodeficiency. Although skeletal abnormalities have been reported in patients with this disease, clear information about skeletal health, with appropriate biochemical

APA, Harvard, Vancouver, ISO, and other styles

30

Cafaro, Alessia, Federica Pigliasco, Sebastiano Barco, et al. "A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot." Molecules 26, no. 18 (2021): 5707. http://dx.doi.org/10.3390/molecules26185707.

Full text

Abstract:

Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic, autoinflammatory disease caused by the loss of functional homozygous or heterozygous mutations in the ADA 2 gene (previously CECR1, Cat Eye Syndrome Chromosome Region 1). A timely diagnosis is crucial to start Anti-TNF therapies that are efficacious in controlling the disease. The confirmation of DADA2 is based on DNA sequencing and enzymatic assay. It is, thus, very important to have robust and reliable assays that can be rapidly utilized in specialized laboratories that can centralize samples from other centers. In this

APA, Harvard, Vancouver, ISO, and other styles

31

Balažiová, Barbora, Peter Čižnár, Miroslava Pozdechová, et al. "Deficiency of adenosine deaminase type 2 (DADA2) - first experiences in Slovakia: case reports." Vnitřní lékařství 70, no. 4 (2024): 246–54. http://dx.doi.org/10.36290/vnl.2024.048.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Szvetnik, Enikoe Amina, Christian Klemann, Ina Hainmann, et al. "Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2." Blood 130, Suppl_1 (2017): 874. http://dx.doi.org/10.1182/blood.v130.suppl_1.874.874.

Full text

Abstract:

Abstract Diamond-Blackfan anemia (DBA) is a prototypic ribosomopathy and remains the most common cause of congenital pure red cell aplasia (PRCA). In 2/3 of patients, ribosomal protein haploinsufficiency is disease-causing, while in remaining 1/3 the genetic etiology is unknown. Recently, deficiency of ADA2 (DADA2) due to biallelic CECR1 -mutations was reported in patients with systemic autoinflammatory disease presenting with early onset vasculopathy, strokes, antibody deficiency, and in some cases variable cytopenias. Based on the clinical findings in an ADA2-deficient patient with PRCA rese

APA, Harvard, Vancouver, ISO, and other styles

33

Miano, Maurizio, Michela Lupia, Francesca Schena, et al. "Bone Marrow Impairment in Patients with Adenosine Deaminase 2 Deficiency." Blood 144, Supplement 1 (2024): 5396. https://doi.org/10.1182/blood-2024-204733.

Full text

Abstract:

Introduction Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory syndrome caused by biallelic mutations in the ADA2 gene characterized by early-onset inflammatory vasculopathy, strokes and immunodeficiency. Haematologic manifestations include lymphopenia, and bone marrow failure (BMF) mainly pure red cell aplasia. The diagnosis of DADA2 is confirmed by decreased enzymatic activity of ADA2 and genetic testing. TNFα inhibitors control inflammatory symptoms whereas hematopoietic stem cell transplant may be needed to treat refractory cytopenia. Objectives The aim of this st

APA, Harvard, Vancouver, ISO, and other styles

34

Pimpale Chavan, Pallavi, Divya Ramadoss, Archana Khan, Pui Y. Lee, and Raju Khubchandani. "Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces." Indian Journal of Pediatrics 88, no. 8 (2021): 828–30. http://dx.doi.org/10.1007/s12098-021-03809-2.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

Sönmez, Hafize Emine, Ezgi Deniz Batu, Ekim Z. Taşkıran, Mehmet Alikaşifoğlu, Yelda Bilginer, and Seza Özen. "Genetic testing for DADA2: How can we avoid missing patients?" European Journal of Human Genetics 26, no. 11 (2018): 1563–65. http://dx.doi.org/10.1038/s41431-018-0240-1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

36

Insalaco, Antonella, Gian Marco Moneta, Manuela Pardeo, et al. "Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency." Journal of Rheumatology 46, no. 5 (2019): 523–26. http://dx.doi.org/10.3899/jrheum.180045.

Full text

Abstract:

Objective.An upregulation of type I interferon (IFN) stimulated genes [IFN score (IS)] was described in patients with adenosine deaminase 2 deficiency (DADA2). We describe the clinical course of 5 such patients and the role of IS as a marker of disease activity and severity.Methods.Expression levels of IS were determined by quantitative real-time PCR.Results.Five white patients were identified as carrying CECR1 mutations. The IS before treatment was elevated in 4 out of 5 patients and decreased after treatment.Conclusion.Our data confirm the high variability of DADA2 and suggest type I IS as a

APA, Harvard, Vancouver, ISO, and other styles

37

Mamadapur, M., S. Mahadevan, A. Singh, R. Chakravarthy C H, R. S, and T. T N. "AB0733 DADA2 VASCULITIS PRESENTING AS POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME (PRES): AN ATYPICAL PRESENTATION." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 1396.3–1397. http://dx.doi.org/10.1136/annrheumdis-2021-eular.2660.

Full text

Abstract:

Background:Deficiency of Adenosine Aminase deficiency 2 is monogenic disease presenting with multisystem involvement of vasculitis,Stroke1,hematological manifestations. We hereby present a young child who presented with PRES initially and later diagnosed as DADA2.Only one case of DADA2 presenting as PRES is reported so far2.This case highlights the atypical presentation of DADA2.Objectives:A case report to highlight the rare presentation of DADA2 vasculits.Methods:8 year old developmentally normal male child,born out of consanguineous marriage presented with with fever,abdominal pain, seizures

APA, Harvard, Vancouver, ISO, and other styles

38

Amikishiyev, S., B. Ince, M. Bektas, et al. "AB1300 AA AMYLOIDOSIS IN A PATIENT WITH MUTATIONS IN BOTH ADA2 AND A20 GENES." Annals of the Rheumatic Diseases 81, Suppl 1 (2022): 1756.2–1757. http://dx.doi.org/10.1136/annrheumdis-2022-eular.3346.

Full text

Abstract:

BackgroundAdenosine Deaminase 2 Deficiency (DADA2) and Haploinsufficiency of A20 (HA20) are two recently described monogenic autoinflammatory diseases (AID). The uncontrolled inflammatory response has been associated with an increased risk of AA amyloidosis in other AID, but there are only two reported patients with DADA2-related amyloidosis so far.1,2ObjectivesWe herein report a patient with AA amyloidosis and AID associated with both DADA2 and HA20.MethodsWe used the Ion Torrent platform for deep sequencing.ResultsCase: A 20-year-old male patient born to consanguineous parents (Figure 1), wa

APA, Harvard, Vancouver, ISO, and other styles

39

Mortellaro, Alessandra, Matteo Zoccolillo, Cristina Mesa Nuñez, et al. "Lentiviral-Mediated Gene Therapy for the Treatment of Adenosine Deaminase 2 Deficiency." Blood 138, Supplement 1 (2021): 2937. http://dx.doi.org/10.1182/blood-2021-152127.

Full text

Abstract:

Abstract Adenosine deaminase 2 deficiency (DADA2) is a recently defined inborn error of immunity caused by loss-of-function mutations in the ADA2 gene. Patients suffer from severe manifestations, including early-onset lacunar strokes, intracranial hemorrhages, vasculitis/vasculopathy, systemic inflammation, immunodeficiency, and hematologic abnormalities. The therapeutic benefit of the current treatments is unsatisfactory. Anti-tumor necrosis factor therapy reduces strokes and systemic inflammation but does not correct cytopenia and bone marrow failure. Allogeneic hematopoietic stem/progenitor

APA, Harvard, Vancouver, ISO, and other styles

40

Motto, Cristina, Federica Teutonico, Nicola Tovaglieri, et al. "Ischemic stroke as presentation of DADA2: Case report and literature review." Journal of the Neurological Sciences 429 (October 2021): 118886. http://dx.doi.org/10.1016/j.jns.2021.118886.

Full text

APA, Harvard, Vancouver, ISO, and other styles

41

Pilania, Rakesh Kumar, Aaqib Zaffar Banday, Saniya Sharma, et al. "Deficiency of Human Adenosine Deaminase Type 2 – A Diagnostic Conundrum for the Hematologist." Frontiers in Immunology 13 (May 3, 2022). http://dx.doi.org/10.3389/fimmu.2022.869570.

Full text

Abstract:

Deficiency of adenosine deaminase type 2 (DADA2) was first described in 2014 as a monogenic cause of polyartertitis nodosa (PAN), early onset lacunar stroke and livedo reticularis. The clinical phenotype of DADA2 is, however, very broad and may involve several organ systems. Apart from vasculitis, children may present with i) Hematological manifestations (ii) Lymphoproliferation and iii) Immunodeficiencies. Patients with DADA2 can have variable patterns of cytopenias and bone marrow failure syndromes. Patients with DADA2 who have predominant haematological manifestations are associated with AD

APA, Harvard, Vancouver, ISO, and other styles

42

Maximiliano, Barbosa. "Trophic State Drives the Diversity of Protists in a Tropical River (New River, Belize)." December 7, 2022. https://doi.org/10.3390/microorganisms10122425.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

Papatriantafyllou, Maria. "DADA2 prevalence in China." Nature Reviews Rheumatology, December 2, 2024. https://doi.org/10.1038/s41584-024-01191-9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

44

Öztürk, Admir, Lara Yağcı, and Serdal Ugurlu. "Mimics and Challenging Presentations of DADA2." Clinical and Experimental Immunology, March 21, 2025. https://doi.org/10.1093/cei/uxaf017.

Full text

Abstract:

Abstract Deficiency of adenosine deaminase 2 (DADA2) has been a challenging diagnosis to make since it was first described in 2014. The disease represents a wide range of phenotypes. Therefore, it may present with various clinical patterns. Throughout the years, several difficult-to-diagnose cases of DADA2 were reported in the literature. Although several studies and reviews were published regarding different phenotypes and manifestations of DADA2, a review of challenging cases with diverse combinations of DADA2 manifestations was needed to integrate the knowledge from the literature into the

APA, Harvard, Vancouver, ISO, and other styles

45

Asna Ashari, Kosar, Nahid Aslani, Nima Parvaneh, et al. "A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran." Pediatric Rheumatology 21, no. 1 (2023). http://dx.doi.org/10.1186/s12969-023-00838-3.

Full text

Abstract:

Abstract Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can categorize most of the signs and symptoms of DADA2 into the three groups of vasculitis, hematologic abnormalities, and immunologic dysregulations. The most dominant vasculitis features are skin manifestations, mostly in the form of livedo racemosa/reticularis, and early onset ischemic or hemorrhagic strokes. Hypogammaglobulinemia that is found in m

APA, Harvard, Vancouver, ISO, and other styles

46

Hashem, Hasan, Dimana Dimitrova, and Isabelle Meyts. "Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations." Frontiers in Immunology 13 (July 7, 2022). http://dx.doi.org/10.3389/fimmu.2022.932385.

Full text

Abstract:

Deficiency of adenosine deaminase 2 (DADA2) is an inherited autosomal recessive disease characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages, end organ vasculitis), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure. Allogeneic hematopoietic cell transplantation (HCT) is curative for DADA2 as it reverses the hematological, immune and vascular phenotype of DADA2. The primary goal of HCT in DADA2, like in other non-malignant diseases, is engraftment with the

APA, Harvard, Vancouver, ISO, and other styles

47

Zhao, Xiaozhen, Junmei Zhang, Caifeng Li, et al. "Early onset is an indication of the severity of DADA2 disease." Rheumatology, April 26, 2022. http://dx.doi.org/10.1093/rheumatology/keac233.

Full text

Abstract:

Abstract Objective To find indicators of disease severity and factors of early remission in patients with the deficiency of adenosine deaminase 2 (DADA2). We enrolled 6 DADA2 patients from 6 families. Methods Direct sequencing of ADA2 was performed by Sanger analysis. A literature review was conducted for articles regarding pediatric DADA2. Results We have found that more organs were involved in early-onset DADA2 patients and early-onset patients had high level inflammatory responses, such as elevated ESR, SF, serum amyloid A (SAA) and CRP. Disease severity was not significantly different from

APA, Harvard, Vancouver, ISO, and other styles

48

Dzhus, Mariia, Lisa Ehlers, Marjon Wouters, et al. "A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency." Journal of Clinical Immunology, August 7, 2023. http://dx.doi.org/10.1007/s10875-023-01555-y.

Full text

Abstract:

AbstractDeficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic autoinflammatory disorder characterized by vasculopathy, immune dysregulation, and hematologic abnormalities. The most notable neurological manifestations of DADA2 are strokes that can manifest with various neurological symptoms and are potentially fatal. However, neurological presentations can be diverse. We here present a review of the neurological manifestations of DADA2 to increase clinical awareness of DADA2 as the underlying diagnosis. We reviewed all published cases of DADA2 from 1 January 2014 until 19

APA, Harvard, Vancouver, ISO, and other styles

49

Lee, Pui Y., Ezgi D. Batu, and Seza Ozen. "Editorial: DADA2 and other monogenic vasculitides." Frontiers in Immunology 13 (December 8, 2022). http://dx.doi.org/10.3389/fimmu.2022.1108853.

Full text

APA, Harvard, Vancouver, ISO, and other styles

50

Gardner, Logan S., Lachlin Vaughan, Danielle T. Avery, et al. "Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection." Journal of Clinical Immunology 44, no. 5 (2024). http://dx.doi.org/10.1007/s10875-024-01712-x.

Full text

Abstract:

AbstractDeficiency of Adenosine Deaminase 2 (DADA2) patients presenting with primary immunodeficiency are at risk of uncontrolled EBV infection and secondary malignancies including EBV-related lymphoproliferative disorders (LPD). This paper describes the first case of EBV related diffuse large B-cell lymphoma in a patient with DADA2 and uncontrolled EBV infection. Consideration should be given to monitoring for EBV viraemia and to preventative EBV specific therapy in DADA2 and patients with at risk primary immunodeficiencies. A type I interferon (IFN) gene signature is associated with DADA2 th

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!