Literature DB >> 23374272

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.

Darrell L Dinwiddie, Stephen F Kingsmore, Sonia Caracciolo, Giuseppe Rossi, Daniele Moratto, Cinzia Mazza, Cristiano Sabelli, Rosa Bacchetta, Laura Passerini, Chiara Magri, Callum J Bell, Neil A Miller, Shannon L Hateley, Carol J Saunders, Lu Zhang, Gary P Schroth, Sergio Barlati, Raffaele Badolato.   

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Year:  2013        PMID： 23374272      PMCID： PMC3570814          DOI： 10.1016/j.jaci.2012.10.062

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


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  9 in total

1.  Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Authors:  Raffaele Badolato; Alberto Prandini; Sonia Caracciolo; Francesca Colombo; Giovanna Tabellini; Mauro Giacomelli; Maria E Cantarini; Andrea Pession; Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Carol J Saunders; Lu Zhang; Gary P Schroth; Alessandro Plebani; Silvia Parolini; Stephen F Kingsmore
Journal:  Blood       Date:  2012-03-29       Impact factor: 22.113

Review 2.  Immunodeficiencies with autoimmune consequences.

Authors:  Luigi D Notarangelo; Eleonora Gambineri; Raffaele Badolato
Journal:  Adv Immunol       Date:  2006       Impact factor: 3.543

3.  Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors:  Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2011-01-12       Impact factor: 17.956

4.  Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Authors:  Karin R Engelhardt; Sean McGhee; Sabine Winkler; Atfa Sassi; Cristina Woellner; Gabriela Lopez-Herrera; Andrew Chen; Hong Sook Kim; Maria Garcia Lloret; Ilka Schulze; Stephan Ehl; Jens Thiel; Dietmar Pfeifer; Hendrik Veelken; Tim Niehues; Kathrin Siepermann; Sebastian Weinspach; Ismail Reisli; Sevgi Keles; Ferah Genel; Necil Kutukculer; Necil Kutuculer; Yildiz Camcioğlu; Ayper Somer; Elif Karakoc-Aydiner; Isil Barlan; Andrew Gennery; Ayse Metin; Aydan Degerliyurt; Maria C Pietrogrande; Mehdi Yeganeh; Zeina Baz; Salem Al-Tamemi; Christoph Klein; Jennifer M Puck; Steven M Holland; Edward R B McCabe; Bodo Grimbacher; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

5.  Combined immunodeficiency associated with DOCK8 mutations.

Authors:  Qian Zhang; Jeremiah C Davis; Ian T Lamborn; Alexandra F Freeman; Huie Jing; Amanda J Favreau; Helen F Matthews; Joie Davis; Maria L Turner; Gulbu Uzel; Steven M Holland; Helen C Su
Journal:  N Engl J Med       Date:  2009-09-23       Impact factor: 91.245

6.  Human dectin-1 deficiency and mucocutaneous fungal infections.

Authors:  Bart Ferwerda; Gerben Ferwerda; Theo S Plantinga; Janet A Willment; Annemiek B van Spriel; Hanka Venselaar; Clara C Elbers; Melissa D Johnson; Alessandra Cambi; Cristal Huysamen; Liesbeth Jacobs; Trees Jansen; Karlijn Verheijen; Laury Masthoff; Servaas A Morré; Gert Vriend; David L Williams; John R Perfect; Leo A B Joosten; Cisca Wijmenga; Jos W M van der Meer; Gosse J Adema; Bart Jan Kullberg; Gordon D Brown; Mihai G Netea
Journal:  N Engl J Med       Date:  2009-10-29       Impact factor: 91.245

Review 7.  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells.

Authors:  Troy R Torgerson; Hans D Ochs
Journal:  J Allergy Clin Immunol       Date:  2007-10       Impact factor: 10.793

8.  Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

Authors:  Rosa Bacchetta; Laura Passerini; Eleonora Gambineri; Minyue Dai; Sarah E Allan; Lucia Perroni; Franca Dagna-Bricarelli; Claudia Sartirana; Susanne Matthes-Martin; Anita Lawitschka; Chiara Azzari; Steven F Ziegler; Megan K Levings; Maria Grazia Roncarolo
Journal:  J Clin Invest       Date:  2006-06       Impact factor: 14.808

9.  "GenotypeColour": colour visualisation of SNPs and CNVs.

Authors:  Sergio Barlati; Sergio Chiesa; Chiara Magri
Journal:  BMC Bioinformatics       Date:  2009-02-04       Impact factor: 3.169
  9 in total
  6 in total

Review 1.  Atopic dermatitis in children: clinical features, pathophysiology, and treatment.

Authors:  Jonathan J Lyons; Joshua D Milner; Kelly D Stone
Journal:  Immunol Allergy Clin North Am       Date:  2014-11-21       Impact factor: 3.479

Review 2.  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

3.  Utility of next generation sequencing in clinical primary immunodeficiencies.

Authors:  Nikita Raje; Sarah Soden; Douglas Swanson; Christina E Ciaccio; Stephen F Kingsmore; Darrell L Dinwiddie
Journal:  Curr Allergy Asthma Rep       Date:  2014-10       Impact factor: 4.919

4.  Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Authors:  Vera Gallo; Laura Dotta; Giuliana Giardino; Emilia Cirillo; Vassilios Lougaris; Roberta D'Assante; Alberto Prandini; Rita Consolini; Emily G Farrow; Isabelle Thiffault; Carol J Saunders; Antonio Leonardi; Alessandro Plebani; Raffaele Badolato; Claudio Pignata
Journal:  Front Immunol       Date:  2016-11-07       Impact factor: 7.561

5.  Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Authors:  Eleonora Gambineri; Sara Ciullini Mannurita; David Hagin; Marina Vignoli; Stephanie Anover-Sombke; Stacey DeBoer; Gesmar R S Segundo; Eric J Allenspach; Claudio Favre; Hans D Ochs; Troy R Torgerson
Journal:  Front Immunol       Date:  2018-11-01       Impact factor: 7.561

6.  Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.

Authors:  Francesco Saettini; Grazia Fazio; Daniele Moratto; Marta Galbiati; Nicola Zucchini; Davide Ippolito; Marco Emilio Dinelli; Luisa Imberti; Mario Mauri; Maria Luisa Melzi; Sonia Bonanomi; Alessio Gerussi; Marinella Pinelli; Chiara Barisani; Cristina Bugarin; Marco Chiarini; Mauro Giacomelli; Rocco Piazza; Giovanni Cazzaniga; Pietro Invernizzi; Silvia Clara Giliani; Raffaele Badolato; Andrea Biondi
Journal:  Front Immunol       Date:  2021-04-16       Impact factor: 7.561
  6 in total

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