Literature DB >> 32016651

Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency.

Baran Erman1,2, Sinem Fırtına3, Tunc Fışgın4, Ceyhun Bozkurt5, Funda Erol Çipe5.   

Abstract

Entities:  

Keywords:  CD3ε deficiency; Primary immunodeficiency; Severe combined immunodeficiency

Mesh：

Substances：

Year:  2020        PMID： 32016651     DOI： 10.1007/s10875-020-00752-3

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


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  12 in total

Review 1.  Selected signalling proteins recruited to the T-cell receptor-CD3 complex.

Authors:  Jatuporn Ngoenkam; Wolfgang W Schamel; Sutatip Pongcharoen
Journal:  Immunology       Date:  2017-09-05       Impact factor: 7.397

2.  Clinical Features and HSCT Outcome for SCID in Turkey.

Authors:  Aydan Ikinciogullari; Deniz Cagdas; Figen Dogu; Tuba Tugrul; Gulsum Karasu; Sule Haskologlu; Serap Aksoylar; Vedat Uygun; Alphan Kupesiz; Alisan Yildiran; Orhan Gursel; Can Ates; Atilla Elhan; Savas Kansoy; Akif Yesilipek; Ilhan Tezcan
Journal:  J Clin Immunol       Date:  2019-03-28       Impact factor: 8.317

3.  A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.

Authors:  Sinem Firtina; Yuk Yin Ng; Ozden Hatirnaz Ng; Serdar Nepesov; Osman Yesilbas; Meltem Kilercik; Nihan Burtecene; Suzan Cinar; Yildiz Camcioglu; Ugur Ozbek; Muge Sayitoglu
Journal:  Immunogenetics       Date:  2017-06-09       Impact factor: 2.846

4.  Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.

Authors:  C Soudais; J P de Villartay; F Le Deist; A Fischer; B Lisowska-Grospierre
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

Review 5.  Organization of proximal signal initiation at the TCR:CD3 complex.

Authors:  Clifford S Guy; Dario A A Vignali
Journal:  Immunol Rev       Date:  2009-11       Impact factor: 12.988

6.  Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient.

Authors:  G Thoenes; C Soudais; F le Deist; C Griscelli; A Fischer; B Lisowska-Grospierre
Journal:  J Biol Chem       Date:  1992-01-05       Impact factor: 5.157

7.  Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later.

Authors:  M Fuehrer; U Pannicke; C Schuetz; E-M Jacobsen; A Schulz; W Friedrich; K Schwarz; M Hönig
Journal:  Klin Padiatr       Date:  2014-02-10       Impact factor: 1.349

Review 8.  B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment?

Authors:  Elie Haddad; Sandrine Leroy; Rebecca H Buckley
Journal:  J Allergy Clin Immunol       Date:  2013-03-05       Impact factor: 10.793

9.  Long-term follow-up of children conditioned with Treosulfan: German and Austrian experience.

Authors:  R Beier; A Schulz; M Hönig; M Eyrich; P-G Schlegel; W Holter; K D Stachel; K Ehlert; J Greil; W Nürnberger; W Wössmann; P Bader; C Urban; I Müller; M Suttorp; M Sauer; B Gruhn; R Meisel; M Zimmermann; K-W Sykora
Journal:  Bone Marrow Transplant       Date:  2012-10-22       Impact factor: 5.483

10.  Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.

Authors:  Geneviève de Saint Basile; Frédéric Geissmann; Elisabeth Flori; Béatrice Uring-Lambert; Claire Soudais; Marina Cavazzana-Calvo; Anne Durandy; Nada Jabado; Alain Fischer; Françoise Le Deist
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808
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