Literature DB >> 28631025

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

Catherine M Biggs1,2, Svetlana Kostjukovits3,4, Kerry Dobbs5, Saila Laakso3, Paula Klemetti3, Helena Valta3, Mervi Taskinen3, Outi Mäkitie3,4,6, Luigi D Notarangelo7.   

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Year:  2017        PMID： 28631025      PMCID： PMC6104642          DOI： 10.1007/s10875-017-0408-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  9 in total

1.  Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Authors:  Elena Crestani; Stefano Volpi; Fabio Candotti; Silvia Giliani; Lucia Dora Notarangelo; Julia Chu; Juan Carlos Aldave Becerra; David Buchbinder; Janet Chou; Raif S Geha; Maria Kanariou; Alejandra King; Cinzia Mazza; Daniele Moratto; Robert Sokolic; Elizabeth Garabedian; Fulvio Porta; Maria Caterina Putti; Rima H Wakim; Erdyni Tsitsikov; Sung-Yun Pai; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2015-09-26       Impact factor: 10.793

2.  Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

Authors:  Miguel A de la Fuente; Mike Recher; Nicholas L Rider; Kevin A Strauss; D Holmes Morton; Margaret Adair; Francisco A Bonilla; Hans D Ochs; Erwin W Gelfand; Itai M Pessach; Jolan E Walter; Alejandra King; Silvia Giliani; Sung-Yun Pai; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2011-05-13       Impact factor: 10.793

3.  Decreased telomere length in children with cartilage-hair hypoplasia.

Authors:  Svetlana Kostjukovits; Sofie Degerman; Minna Pekkinen; Paula Klemetti; Mattias Landfors; Göran Roos; Mervi Taskinen; Outi Mäkitie
Journal:  J Med Genet       Date:  2016-12-16       Impact factor: 6.318

4.  Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Authors:  Victoria Bordon; Andrew R Gennery; Mary A Slatter; Els Vandecruys; Genevieve Laureys; Paul Veys; Waseem Qasim; Qasim Waseem; Wilhelm Friedrich; Nico M Wulfraat; Franziska Scherer; Andrew J Cant; Alain Fischer; Marina Cavazzana-Calvo; Marina Cavazanna-Calvo; Robbert G M Bredius; Luigi D Notarangelo; Evelina Mazzolari; Benedicte Neven; Tayfun Güngör; Güngör Tayfun
Journal:  Blood       Date:  2010-04-07       Impact factor: 22.113

Review 5.  Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.

Authors:  Kai Kisand; Pärt Peterson
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

6.  Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Authors:  O Mäkitie; I Kaitila
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

7.  Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Authors:  Jolan E Walter; Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Bleesing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz T Costa-Carvalho; Joao Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D Notarangelo
Journal:  J Clin Invest       Date:  2015-10-12       Impact factor: 14.808

8.  Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.

Authors:  Nicholas L Rider; D Holmes Morton; Erik Puffenberger; Christine L Hendrickson; Donna L Robinson; Kevin A Strauss
Journal:  Clin Immunol       Date:  2009-01-16       Impact factor: 3.969

9.  Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.

Authors:  Pietro Luigi Poliani; Fabio Facchetti; Maria Ravanini; Andrew Richard Gennery; Anna Villa; Chaim M Roifman; Luigi D Notarangelo
Journal:  Blood       Date:  2009-05-04       Impact factor: 22.113
  9 in total
  2 in total

1.  Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Authors:  Giovanni Del Borrello; Maurizio Miano; Concetta Micalizzi; Michela Lupia; Isabella Ceccherini; Alice Grossi; Andrea Cavalli; Stefano Gustincich; Marta Rusmini; Maura Faraci; Gianluca Dell'Orso; Ugo Ramenghi; Alessio Mesini; Erica Ricci; Maurizio Schiavone; Natascia Di Iorgi; Carlo Dufour
Journal:  Front Immunol       Date:  2022-05-19       Impact factor: 8.786

2.  A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.

Authors:  Svetlana Vakkilainen; Riikka Mäkitie; Paula Klemetti; Helena Valta; Mervi Taskinen; Eystein Sverre Husebye; Outi Mäkitie
Journal:  Front Immunol       Date:  2018-10-25       Impact factor: 7.561
  2 in total

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