Literature DB >> 22578972

Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.

Carsten Speckmann, Carla Neumann, Stephan Borte, Giancarlo la Marca, Jörn Oliver Sass, Elisabeth Wiech, Paul Fisch, Klaus Schwarz, Bernd Buchholz, Michael Schlesier, Kerstin Felgentreff, Bodo Grimbacher, Ines Santisteban, Pawan Bali, Michael S Hershfield, Stephan Ehl.   

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Year:  2012        PMID： 22578972     DOI： 10.1016/j.jaci.2012.04.004

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  11 in total

1.  Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

Authors:  Renata Baffelli; Lucia D Notarangelo; Luisa Imberti; Michael S Hershfield; Federico Serana; Ines Santisteban; Federica Bolda; Fulvio Porta; Arnalda Lanfranchi
Journal:  J Clin Immunol       Date:  2015-09-16       Impact factor: 8.317

Review 2.  Inborn errors of metabolism underlying primary immunodeficiencies.

Authors:  Nima Parvaneh; Pierre Quartier; Parastoo Rostami; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  J Clin Immunol       Date:  2014-08-01       Impact factor: 8.317

3.  TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Authors:  M Dasouki; A Jabr; G AlDakheel; F Elbadaoui; A M Alazami; B Al-Saud; R Arnaout; H Aldhekri; I Alotaibi; H Al-Mousa; A Hawwari
Journal:  Clin Exp Immunol       Date:  2020-07-21       Impact factor: 4.330

Review 4.  Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.

Authors:  Markus G Seidel
Journal:  Blood       Date:  2014-08-27       Impact factor: 22.113

Review 5.  The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

Authors:  H B Gaspar; L Hammarström; N Mahlaoui; M Borte; S Borte
Journal:  J Clin Immunol       Date:  2014-04-02       Impact factor: 8.317

Review 6.  Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

Authors:  Donald B Kohn; Michael S Hershfield; Jennifer M Puck; Alessandro Aiuti; Annaliesse Blincoe; H Bobby Gaspar; Luigi D Notarangelo; Eyal Grunebaum
Journal:  J Allergy Clin Immunol       Date:  2018-09-05       Impact factor: 10.793

7.  Advances in neonatal screening for primary immune deficiencies.

Authors:  Tingting Jiang; Zhenguang Li; Qiuli Zhang
Journal:  Exp Ther Med       Date:  2016-03-01       Impact factor: 2.447

8.  Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Authors:  Michela Barbaro; Annika Ohlsson; Stephan Borte; Susanne Jonsson; Rolf H Zetterström; Jovanka King; Jacek Winiarski; Ulrika von Döbeln; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2016-11-21       Impact factor: 8.317

9.  First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).

Authors:  Ana Argudo-Ramírez; Andrea Martín-Nalda; Jose L Marín-Soria; Rosa M López-Galera; Sonia Pajares-García; Jose M González de Aledo-Castillo; Mónica Martínez-Gallo; Marina García-Prat; Roger Colobran; Jacques G Riviere; Yania Quintero; Tatiana Collado; Judit García-Villoria; Antonia Ribes; Pere Soler-Palacín
Journal:  Front Immunol       Date:  2019-10-22       Impact factor: 7.561

Review 10.  Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.

Authors:  Jovanka R King; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2017-11-08       Impact factor: 8.317
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