Literature DB >> 23014587

First reported case of Omenn syndrome in a patient with reticular dysgenesis.

Lauren A Henderson, Francesco Frugoni, Gregory Hopkins, Waleed Al-Herz, Katja Weinacht, Anne Marie Comeau, Francisco A Bonilla, Luigi D Notarangelo, Sung-Yun Pai.   

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Year:  2012        PMID： 23014587      PMCID： PMC3894621          DOI： 10.1016/j.jaci.2012.07.045

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


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  10 in total

1.  Reticular dysgenesia.

Authors:  O de VAAL; V SEYNHAEVE
Journal:  Lancet       Date:  1959-12-19       Impact factor: 79.321

2.  High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

Authors:  Jacalyn L Gerstel-Thompson; Jonathan F Wilkey; Jennifer C Baptiste; Jennifer S Navas; Sung-Yun Pai; Kenneth A Pass; Roger B Eaton; Anne Marie Comeau
Journal:  Clin Chem       Date:  2010-07-21       Impact factor: 8.327

3.  Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations.

Authors:  W M Comans-Bitter; R de Groot; R van den Beemd; H J Neijens; W C Hop; K Groeneveld; H Hooijkaas; J J van Dongen
Journal:  J Pediatr       Date:  1997-03       Impact factor: 4.406

4.  Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.

Authors:  T N Small; D A Wall; J Kurtzberg; M J Cowan; R J O'Reilly; W Friedrich
Journal:  J Pediatr       Date:  1999-09       Impact factor: 4.406

5.  Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

Authors:  Ulrich Pannicke; Manfred Hönig; Isabell Hess; Claudia Friesen; Karlheinz Holzmann; Eva-Maria Rump; Thomas F Barth; Markus T Rojewski; Ansgar Schulz; Thomas Boehm; Wilhelm Friedrich; Klaus Schwarz
Journal:  Nat Genet       Date:  2008-11-30       Impact factor: 38.330

6.  Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.

Authors:  Chantal Lagresle-Peyrou; Emmanuelle M Six; Capucine Picard; Frédéric Rieux-Laucat; Vincent Michel; Andrea Ditadi; Corinne Demerens-de Chappedelaine; Estelle Morillon; Françoise Valensi; Karen L Simon-Stoos; James C Mullikin; Lenora M Noroski; Céline Besse; Nicolas M Wulffraat; Alina Ferster; Manuel M Abecasis; Fabien Calvo; Christine Petit; Fabio Candotti; Laurent Abel; Alain Fischer; Marina Cavazzana-Calvo
Journal:  Nat Genet       Date:  2008-11-30       Impact factor: 38.330

7.  Cardiac chamber hypertrophy following hematopoietic stem cell transplantation for primary immunodeficiency.

Authors:  Sean R Bulley; Lee Benson; Eyal Grunebaum; Chaim M Roifman
Journal:  Biol Blood Marrow Transplant       Date:  2008-02       Impact factor: 5.742

8.  Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study.

Authors:  William T Shearer; Howard M Rosenblatt; Rebecca S Gelman; Rebecca Oyomopito; Susan Plaeger; E Richard Stiehm; Diane W Wara; Steven D Douglas; Katherine Luzuriaga; Elizabeth J McFarland; Ram Yogev; Mobeen H Rathore; Wende Levy; Bobbie L Graham; Stephen A Spector
Journal:  J Allergy Clin Immunol       Date:  2003-11       Impact factor: 10.793

9.  Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study.

Authors:  Karin C Straathof; Kanchan Rao; Matthias Eyrich; Geoff Hale; Prudence Bird; Eleanor Berrie; Lucinda Brown; Stuart Adams; Paul G Schlegel; Nicholas Goulden; H Bobby Gaspar; Andrew R Gennery; Paul Landais; E G Davies; Malcolm K Brenner; Paul A Veys; Persis Jal Amrolia
Journal:  Lancet       Date:  2009-09-02       Impact factor: 79.321

Review 10.  Omenn syndrome: inflammation in leaky severe combined immunodeficiency.

Authors:  Anna Villa; Luigi D Notarangelo; Chaim M Roifman
Journal:  J Allergy Clin Immunol       Date:  2008-11-06       Impact factor: 10.793
  10 in total
  10 in total

Review 1.  Atopic Dermatitis and Allergic Urticaria: Cutaneous Manifestations of Immunodeficiency.

Authors:  Martin Robert Gaudinski; Joshua D Milner
Journal:  Immunol Allergy Clin North Am       Date:  2016-10-28       Impact factor: 3.479

2.  Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Authors:  Manfred Hoenig; Chantal Lagresle-Peyrou; Ulrich Pannicke; Luigi D Notarangelo; Fulvio Porta; Andrew R Gennery; Mary Slatter; Morton J Cowan; Polina Stepensky; Hamoud Al-Mousa; Daifulah Al-Zahrani; Sung-Yun Pai; Waleed Al Herz; Hubert B Gaspar; Paul Veys; Koichi Oshima; Kohsuke Imai; Hiromasa Yabe; Lenora M Noroski; Nico M Wulffraat; Karl-Walter Sykora; Pere Soler-Palacin; Hideki Muramatsu; Mariam Al Hilali; Despina Moshous; Klaus-Michael Debatin; Catharina Schuetz; Eva-Maria Jacobsen; Ansgar S Schulz; Klaus Schwarz; Alain Fischer; Wilhelm Friedrich; Marina Cavazzana
Journal:  Blood       Date:  2017-03-22       Impact factor: 22.113

Review 3.  Inborn Errors of the Immune System Associated With Atopy.

Authors:  Ryan W Nelson; Raif S Geha; Douglas R McDonald
Journal:  Front Immunol       Date:  2022-04-27       Impact factor: 8.786

Review 4.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

5.  Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Authors:  Sebastian Fuchs; Anne Rensing-Ehl; Ulrich Pannicke; Myriam R Lorenz; Paul Fisch; Yogesh Jeelall; Jan Rohr; Carsten Speckmann; Thomas Vraetz; Susan Farmand; Annette Schmitt-Graeff; Marcus Krüger; Brigitte Strahm; Philipp Henneke; Anselm Enders; Keisuke Horikawa; Christopher Goodnow; Klaus Schwarz; Stephan Ehl
Journal:  Blood       Date:  2015-08-19       Impact factor: 22.113

6.  Inborn errors of purine metabolism: clinical update and therapies.

Authors:  Shanti Balasubramaniam; John A Duley; John Christodoulou
Journal:  J Inherit Metab Dis       Date:  2014-06-28       Impact factor: 4.982

7.  Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.

Authors:  Alberto Rissone; Katja Gabriele Weinacht; Giancarlo la Marca; Kevin Bishop; Elisa Giocaliere; Jayashree Jagadeesh; Kerstin Felgentreff; Kerry Dobbs; Waleed Al-Herz; Marypat Jones; Settara Chandrasekharappa; Martha Kirby; Stephen Wincovitch; Karen Lyn Simon; Yuval Itan; Alex DeVine; Thorsten Schlaeger; Axel Schambach; Raman Sood; Luigi D Notarangelo; Fabio Candotti
Journal:  J Exp Med       Date:  2015-07-06       Impact factor: 14.307

Review 8.  Primary immunodeficiencies associated with eosinophilia.

Authors:  Behdad Navabi; Julia Elizabeth Mainwaring Upton
Journal:  Allergy Asthma Clin Immunol       Date:  2016-05-24       Impact factor: 3.406

9.  A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress.

Authors:  Alberto Rissone; Erin Jimenez; Kevin Bishop; Blake Carrington; Claire Slevin; Stephen M Wincovitch; Raman Sood; Fabio Candotti; Shawn M Burgess
Journal:  Dis Model Mech       Date:  2019-12-20       Impact factor: 5.758

Review 10.  Powering the immune system: mitochondria in immune function and deficiency.

Authors:  Melissa A Walker; Stefano Volpi; Katherine B Sims; Jolan E Walter; Elisabetta Traggiai
Journal:  J Immunol Res       Date:  2014-09-21       Impact factor: 4.818
  10 in total

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