Literature DB >> 33006108

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.

Eveline Y Wu1, Hye Sun Kuehn2, Sergio D Rosenzweig2, Ivona Aksentijevich3, Diana B McShane4.   

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Year:  2020        PMID： 33006108      PMCID： PMC7855407          DOI： 10.1007/s10875-020-00877-5

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


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  6 in total

Review 1.  Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

Authors:  D Roos; M de Boer; F Kuribayashi; C Meischl; R S Weening; A W Segal; A Ahlin; K Nemet; J P Hossle; E Bernatowska-Matuszkiewicz; H Middleton-Price
Journal:  Blood       Date:  1996-03-01       Impact factor: 22.113

2.  Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis.

Authors:  Gulbu Uzel; Jordan S Orange; Nina Poliak; Beatriz E Marciano; Theo Heller; Steven M Holland
Journal:  Clin Infect Dis       Date:  2010-11-08       Impact factor: 9.079

3.  Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary to Burkholderia cepacia complex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: 'cepacia syndrome' revisited.

Authors:  Nicolás Urriola; Andrew Williams; Karuna Keat
Journal:  BMJ Case Rep       Date:  2019-08-30

4.  X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.

Authors:  Beatriz E Marciano; Christa S Zerbe; E Liana Falcone; Li Ding; Suk See DeRavin; Janine Daub; Samantha Kreuzburg; Lynne Yockey; Sally Hunsberger; Ladan Foruraghi; Lisa A Barnhart; Kabir Matharu; Victoria Anderson; Dirk N Darnell; Cathleen Frein; Danielle L Fink; Karen P Lau; Debra A Long Priel; John I Gallin; Harry L Malech; Gulbu Uzel; Alexandra F Freeman; Douglas B Kuhns; Sergio D Rosenzweig; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2017-05-18       Impact factor: 10.793

Review 5.  Chronic granulomatous disease.

Authors:  Steven M Holland
Journal:  Hematol Oncol Clin North Am       Date:  2012-11-22       Impact factor: 3.722

6.  A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

Authors:  Gudny A Arnadottir; Gudmundur L Norddahl; Steinunn Gudmundsdottir; Arna B Agustsdottir; Snaevar Sigurdsson; Brynjar O Jensson; Kristbjorg Bjarnadottir; Fannar Theodors; Stefania Benonisdottir; Erna V Ivarsdottir; Asmundur Oddsson; Ragnar P Kristjansson; Gerald Sulem; Kristjan F Alexandersson; Thorhildur Juliusdottir; Kjartan R Gudmundsson; Jona Saemundsdottir; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Sigurdsson; Paolo Manzanillo; Sigurjon A Gudjonsson; Gudmundur A Thorisson; Olafur Th Magnusson; Gisli Masson; Kjartan B Orvar; Hilma Holm; Sigurdur Bjornsson; Reynir Arngrimsson; Daniel F Gudbjartsson; Unnur Thorsteinsdottir; Ingileif Jonsdottir; Asgeir Haraldsson; Patrick Sulem; Kari Stefansson
Journal:  Nat Commun       Date:  2018-10-25       Impact factor: 14.919
  6 in total

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