Literature DB >> 19187738

Congenital T cell deficiency in a patient with CHARGE syndrome.

Julie Hoover-Fong1, William J Savage, Emily Lisi, Jerry Winkelstein, George H Thomas, Lies H Hoefsloot, David M Loeb.   

Abstract

CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.

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Year:  2009        PMID： 19187738      PMCID： PMC4293037          DOI： 10.1016/j.jpeds.2008.07.049

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  18 in total

1.  Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.

Authors:  J Amiel; T Attieé-Bitach; R Marianowski; V Cormier-Daire; V Abadie; D Bonnet; M Gonzales; S Chemouny; F Brunelle; A Munnich; Y Manach; S Lyonnet
Journal:  Am J Med Genet       Date:  2001-03-01

2.  Updated diagnostic criteria for CHARGE syndrome: a proposal.

Authors:  Alain Verloes
Journal:  Am J Med Genet A       Date:  2005-03-15       Impact factor: 2.802

Review 3.  The many faces of IL-7: from lymphopoiesis to peripheral T cell maintenance.

Authors:  Terry J Fry; Crystal L Mackall
Journal:  J Immunol       Date:  2005-06-01       Impact factor: 5.422

Review 4.  Restoration of T-cell homeostasis after T-cell depletion.

Authors:  C L Mackall; F T Hakim; R E Gress
Journal:  Semin Immunol       Date:  1997-12       Impact factor: 11.130

Review 5.  CHARGE association: an update and review for the primary pediatrician.

Authors:  K D Blake; S L Davenport; B D Hall; M A Hefner; R A Pagon; M S Williams; A E Lin; J M Graham
Journal:  Clin Pediatr (Phila)       Date:  1998-03       Impact factor: 1.168

6.  Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Authors:  D Sanlaville; H C Etchevers; M Gonzales; J Martinovic; M Clément-Ziza; A-L Delezoide; M-C Aubry; A Pelet; S Chemouny; C Cruaud; S Audollent; C Esculpavit; G Goudefroye; C Ozilou; C Fredouille; N Joye; N Morichon-Delvallez; Y Dumez; J Weissenbach; A Munnich; J Amiel; F Encha-Razavi; S Lyonnet; M Vekemans; T Attié-Bitach
Journal:  J Med Genet       Date:  2005-09-16       Impact factor: 6.318

7.  CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.

Authors:  G Pinto; V Abadie; R Mesnage; J Blustajn; S Cabrol; J Amiel; L Hertz-Pannier; A M Bertrand; S Lyonnet; R Rappaport; I Netchine
Journal:  J Clin Endocrinol Metab       Date:  2005-07-19       Impact factor: 5.958

8.  Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Authors:  M Louise Markert; Blythe H Devlin; Marilyn J Alexieff; Jie Li; Elizabeth A McCarthy; Stephanie E Gupton; Ivan K Chinn; Laura P Hale; Thomas B Kepler; Min He; Marcella Sarzotti; Michael A Skinner; Henry E Rice; Jeffrey C Hoehner
Journal:  Blood       Date:  2007-02-06       Impact factor: 22.113

Review 9.  Immunological abnormalities in CHARGE syndrome.

Authors:  Karin Writzl; Catherine M Cale; Christine M Pierce; Louise C Wilson; Raoul C M Hennekam
Journal:  Eur J Med Genet       Date:  2007-05-27       Impact factor: 2.708

10.  T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome.

Authors:  Danièle Bensoussan; Françoise Le Deist; Véronique Latger-Cannard; Marie José Grégoire; Odile Avinens; Pierre Feugier; Violaine Bourdon; Christine André-Botté; Claudine Schmitt; Philippe Jonveaux; Jean François Eliaou; Jean François Stoltz; Pierre Bordigoni
Journal:  Br J Haematol       Date:  2002-06       Impact factor: 6.998
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  7 in total

1.  Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly.

Authors:  Ales Janda; Petr Sedlacek; Manfred Hönig; Wilhelm Friedrich; Martin Champagne; Tadashi Matsumoto; Alain Fischer; Benedicte Neven; Audrey Contet; Danielle Bensoussan; Pierre Bordigoni; David Loeb; William Savage; Nada Jabado; Francisco A Bonilla; Mary A Slatter; E Graham Davies; Andrew R Gennery
Journal:  Blood       Date:  2010-06-07       Impact factor: 22.113

Review 2.  Chromodomain proteins in development: lessons from CHARGE syndrome.

Authors:  W S Layman; E A Hurd; D M Martin
Journal:  Clin Genet       Date:  2010-04-08       Impact factor: 4.438

Review 3.  CHARGE syndrome: a review of the immunological aspects.

Authors:  Monica T Y Wong; Elisabeth H Schölvinck; Annechien J A Lambeck; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2015-02-18       Impact factor: 4.246

4.  More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Authors:  N Corsten-Janssen; S C Saitta; L H Hoefsloot; D M McDonald-McGinn; D A Driscoll; R Derks; K A Dickinson; W S Kerstjens-Frederikse; B S Emanuel; E H Zackai; C M A van Ravenswaaij-Arts
Journal:  Mol Syndromol       Date:  2013-05-28

Review 5.  Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.

Authors:  Cathleen Collins; Emily Sharpe; Abigail Silber; Sarah Kulke; Elena W Y Hsieh
Journal:  J Clin Immunol       Date:  2021-05-13       Impact factor: 8.317

6.  Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene.

Authors:  Cong Tian; Heping Yu; Bin Yang; Fengchan Han; Ye Zheng; Cynthia F Bartels; Deborah Schelling; James E Arnold; Peter C Scacheri; Qing Yin Zheng
Journal:  PLoS One       Date:  2012-04-23       Impact factor: 3.240

Review 7.  T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features.

Authors:  Giuliana Giardino; Carla Borzacchiello; Martina De Luca; Roberta Romano; Rosaria Prencipe; Emilia Cirillo; Claudio Pignata
Journal:  Front Immunol       Date:  2020-08-14       Impact factor: 7.561
  7 in total

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