Literature DB >> 1468454

Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency.

L D Notarangelo1, G Stoppoloni, R Toraldo, E Mazzolari, A Coletta, P Airò, C Bordignon, A G Ugazio.   

Abstract

We report a 2.3-year-old girl with complete lack of adenosine deaminase (ADA) activity who presented with severe atopic dermatitis and insulin-dependent diabetes mellitus but only mild recurrent infections. Abnormalities of immune function included profound depletion of CD8+ lymphocytes, hyperimmunoglobulinaemia E, and very low in vitro proliferative response to mitogens. Treatment with polyethylene glycol-conjugated ADA was followed by rapid amelioration of clinical and immunological conditions. The immunological and clinical features of this child suggest that the clinical spectrum of ADA deficiency may be broader than originally supposed.

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Year:  1992        PMID: 1468454     DOI: 10.1007/bf01957930

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  28 in total

1.  Cytotoxic T-cell precursors with low-level CD8 in the diabetes-prone Biobreeding rat: implications for generation of an autoimmune T-cell repertoire.

Authors:  D Bellgrau; A C Lagarde
Journal:  Proc Natl Acad Sci U S A       Date:  1990-01       Impact factor: 11.205

Review 2.  Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies.

Authors:  R Hirschhorn
Journal:  Clin Immunol Immunopathol       Date:  1986-07

3.  Dipyridamole and intravenous deoxycytidine therapy in a patient with adenosine deaminase deficiency.

Authors:  A J Ammann; M J Cowan; D W Martin; D W Wara
Journal:  Birth Defects Orig Artic Ser       Date:  1983

4.  Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia.

Authors:  M Carbonari; M Cherchi; R Paganelli; G Giannini; E Galli; C Gaetano; C Papetti; M Fiorilli
Journal:  N Engl J Med       Date:  1990-01-11       Impact factor: 91.245

5.  An in vivo model of somatic cell gene therapy for human severe combined immunodeficiency.

Authors:  G Ferrari; S Rossini; R Giavazzi; D Maggioni; N Nobili; M Soldati; G Ungers; F Mavilio; E Gilboa; C Bordignon
Journal:  Science       Date:  1991-03-15       Impact factor: 47.728

6.  Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations.

Authors:  H Ratech; M A Greco; G Gallo; D L Rimoin; H Kamino; R Hirschhorn
Journal:  Am J Pathol       Date:  1985-07       Impact factor: 4.307

7.  Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.

Authors:  H A Simmonds; L D Fairbanks; G S Morris; D R Webster; E H Harley
Journal:  Clin Chim Acta       Date:  1988-02-15       Impact factor: 3.786

8.  The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency.

Authors:  S D Cederbaum; I Kaitila; D L Rimoin; E R Stiehm
Journal:  J Pediatr       Date:  1976-11       Impact factor: 4.406

9.  Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase.

Authors:  M S Hershfield; R H Buckley; M L Greenberg; A L Melton; R Schiff; C Hatem; J Kurtzberg; M L Markert; R H Kobayashi; A L Kobayashi
Journal:  N Engl J Med       Date:  1987-03-05       Impact factor: 91.245

10.  A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.

Authors:  M L Markert; C Norby-Slycord; F E Ward
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

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  10 in total

1.  Increasing importance of stem cell gene therapy in adenosine deaminase deficiency?

Authors:  Oner Ozdemir
Journal:  Clin Vaccine Immunol       Date:  2006-03

2.  Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID.

Authors:  Aisha V Sauer; Immacolata Brigida; Nicola Carriglio; Raisa Jofra Hernandez; Samantha Scaramuzza; Daniela Clavenna; Francesca Sanvito; Pietro L Poliani; Nicola Gagliani; Filippo Carlucci; Antonella Tabucchi; Maria Grazia Roncarolo; Elisabetta Traggiai; Anna Villa; Alessandro Aiuti
Journal:  Blood       Date:  2011-12-19       Impact factor: 22.113

Review 3.  Connection between γδ T-cell- and Adenosine- Mediated Immune Regulation in the Pathogenesis of Experimental Autoimmune Uveitis.

Authors:  Dongchun Liang; Hui Shao; Willi K Born; Rebecca L O'Brien; Henry J Kaplan; Deming Sun
Journal:  Crit Rev Immunol       Date:  2018       Impact factor: 2.214

4.  Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy.

Authors:  Aisha V Sauer; Henner Morbach; Immacolata Brigida; Yen-Shing Ng; Alessandro Aiuti; Eric Meffre
Journal:  J Clin Invest       Date:  2012-05-24       Impact factor: 14.808

Review 5.  Clinical applications of gene therapy for primary immunodeficiencies.

Authors:  Maria Pia Cicalese; Alessandro Aiuti
Journal:  Hum Gene Ther       Date:  2015-04       Impact factor: 5.695

6.  B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

Authors:  Immacolata Brigida; Aisha V Sauer; Francesca Ferrua; Stefania Giannelli; Samantha Scaramuzza; Valentina Pistoia; Maria Carmina Castiello; Barbara H Barendregt; Maria Pia Cicalese; Miriam Casiraghi; Chiara Brombin; Jennifer Puck; Klaus Müller; Lucia Dora Notarangelo; Davide Montin; Joris M van Montfrans; Maria Grazia Roncarolo; Elisabetta Traggiai; Jacques J M van Dongen; Mirjam van der Burg; Alessandro Aiuti
Journal:  J Allergy Clin Immunol       Date:  2014-02-05       Impact factor: 10.793

7.  Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency.

Authors:  Aisha Vanessa Sauer; Immacolata Brigida; Nicola Carriglio; Alessandro Aiuti
Journal:  Front Immunol       Date:  2012-08-27       Impact factor: 7.561

8.  Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience.

Authors:  Ori Scott; Vy Hong-Diep Kim; Brenda Reid; Anne Pham-Huy; Adelle R Atkinson; Alessandro Aiuti; Eyal Grunebaum
Journal:  J Clin Immunol       Date:  2017-07-26       Impact factor: 8.542

9.  Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.

Authors:  Serena I Tripodi; Paola Corti; Silvia Giliani; Arnalda Lanfranchi; Andrea Biondi; Raffaele Badolato
Journal:  Front Pediatr       Date:  2018-10-01       Impact factor: 3.418

10.  Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID).

Authors:  Claire Booth; H Bobby Gaspar
Journal:  Biologics       Date:  2009-07-13
  10 in total

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