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Year Number of Results
1993 1
2003 1
2010 2
2011 4
2012 2
2013 5
2014 3
2015 1
2017 2
2018 5
2019 3
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2022 4
2023 4

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38 results

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Page 1
Adenosine deaminase deficiency: a review.
Flinn AM, Gennery AR. Flinn AM, et al. Orphanet J Rare Dis. 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5. Orphanet J Rare Dis. 2018. PMID: 29690908 Free PMC article. Review.
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. ...This a …
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently af …
Polyarteritis nodosa.
Bilginer Y, Ozen S. Bilginer Y, et al. Curr Opin Pediatr. 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. Curr Opin Pediatr. 2022. PMID: 35081554 Review.
PURPOSE OF REVIEW: The aim is to review recent reports on childhood polyarteritis nodosa, including recent reports on treatment and outcome. Recently deficiency of adenosine deaminase-2 (ADA2), which may present as a polyarteritis nodosa-mimic, is becoming an …
PURPOSE OF REVIEW: The aim is to review recent reports on childhood polyarteritis nodosa, including recent reports on treatment and outcome. …
Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S. Fischer A, et al. J Exp Med. 2020 Jan 6;217(2):e20190607. doi: 10.1084/jem.20190607. J Exp Med. 2020. PMID: 31826240 Free PMC article. Review.
Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by gammac-deficiency (SCID X1) and adenosine deaminase (ADA) deficiency. The rationale was brought up by the observatio …
Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by gamm …
Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.
Signa S, Bertoni A, Penco F, Caorsi R, Cafaro A, Cangemi G, Volpi S, Gattorno M, Schena F. Signa S, et al. Front Immunol. 2022 Jul 11;13:935957. doi: 10.3389/fimmu.2022.935957. eCollection 2022. Front Immunol. 2022. PMID: 35898506 Free PMC article. Review.
Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disorder presenting with a broad spectrum of clinical manifestations, including immunodeficiency, vasculopathy and hematologic disease. Biallelic mutations in ADA2 gene have be …
Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disorder presenting with a broad spectrum o …
Gene therapy for primary immunodeficiencies.
Fox TA, Booth C. Fox TA, et al. Br J Haematol. 2021 Jun;193(6):1044-1059. doi: 10.1111/bjh.17269. Epub 2020 Dec 18. Br J Haematol. 2021. PMID: 33336808 Free article. Review.
HSC GT for PID has been in development for the last two decades and the first licensed HSC-GT product for adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is now available. ...
HSC GT for PID has been in development for the last two decades and the first licensed HSC-GT product for adenosine deaminase- …
How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).
Kohn DB, Gaspar HB. Kohn DB, et al. J Clin Immunol. 2017 May;37(4):351-356. doi: 10.1007/s10875-017-0373-y. Epub 2017 Feb 14. J Clin Immunol. 2017. PMID: 28194615 Review.
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the develo …
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases o …
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK, Banday AZ, Sharma S, Kumrah R, Joshi V, Loganathan S, Dhaliwal M, Jindal AK, Vignesh P, Suri D, Rawat A, Singh S. Pilania RK, et al. Front Immunol. 2022 May 3;13:869570. doi: 10.3389/fimmu.2022.869570. eCollection 2022. Front Immunol. 2022. PMID: 35592317 Free PMC article. Review.
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. ...Affected patients have variable hypogammaglobulinemia, decrease in B cells, …
Deficiency of adenosine deaminase type 2 (DADA2) was first described in 2014 as a monogenic cause of polyartertitis nod …
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Miyazawa H, Wada T. Miyazawa H, et al. Front Immunol. 2021 Nov 16;12:783022. doi: 10.3389/fimmu.2021.783022. eCollection 2021. Front Immunol. 2021. PMID: 34868061 Free PMC article. Review.
Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. ...In this paper, we review the recent findings of reversion mosaicism i …
Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Sever …
Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency.
Montiel-Equihua CA, Thrasher AJ, Gaspar HB. Montiel-Equihua CA, et al. Curr Gene Ther. 2012 Feb 1;12(1):57-65. doi: 10.2174/156652312799789253. Curr Gene Ther. 2012. PMID: 22348551 Review.
The severe combined immunodeficiency caused by the absence of adenosine deaminase (SCID-ADA) was the first monogenic disorder for which gene therapy was developed. ...
The severe combined immunodeficiency caused by the absence of adenosine deaminase (SCID-ADA) was the firs …
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM. Grunebaum E, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. Curr Opin Allergy Clin Immunol. 2013. PMID: 24113229 Review.
PURPOSE OF THE REVIEW: To review the recent advances in the understanding and management of the immune and nonimmune effects of inherited adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies. ...Animal studies suggest that defects in surf …
PURPOSE OF THE REVIEW: To review the recent advances in the understanding and management of the immune and nonimmune effects of inherited …
38 results