skip to content
Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system Preview this item
ClosePreview this item
Checking...

Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system

Author: J G Noordzij; et al
Publisher: [S.l.] : [The Author] ; Rotterdam : Erasmus University [Host], 2002
Dissertation: Thesis Erasmus University Rotterdam.
Edition/Format:   Thesis/dissertation : Document : Thesis/dissertation : eBook   Computer File : English
Summary:
This thesis focuses on the immunological phenotype, the mutation analysis, and the residual activity of mutated proteins in patients with PID of the lymphoid system. During this project, we have investigated possible genotype-(immuno)phenotype relationships in patients with antibody deficiencies and SCID. Consequently, mutation analysis of the relevant genes formed an essential part of the study. Part 2 focuses on  Read more...
Rating:

(not yet rated) 0 with reviews - Be the first.

Subjects
More like this

Find a copy online

Links to this item

Find a copy in the library

&AllPage.SpinnerRetrieving; Finding libraries that hold this item...

Details

Genre/Form: Proefschriften (vorm)
Additional Physical Format: Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system
(NL-LeOCL)238890473
Material Type: Document, Thesis/dissertation, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: J G Noordzij; et al
ISBN: 9073436591 9789073436596
OCLC Number: 780553325
Notes: ook verschenen in gedrukte versie.
Description: 1 online resource.
Responsibility: Jeroen Gijsbert Noordzij ; [ill.: Tar van Os ... et al.].

Abstract:

This thesis focuses on the immunological phenotype, the mutation analysis, and the residual activity of mutated proteins in patients with PID of the lymphoid system. During this project, we have investigated possible genotype-(immuno)phenotype relationships in patients with antibody deficiencies and SCID. Consequently, mutation analysis of the relevant genes formed an essential part of the study. Part 2 focuses on the laboratory diagnosis of patients with PID of the lymphoid system. In combination with clinical data. detailed immunophenotyping of PB and BM appeared to be essential to select possible candidate genes for mutation analysis (Chapter 2). Chapter 3 describes the pre-analytical. analytical, and post-analytical phases of mutation analysis and comments on the pitfalls that might occur when trying to establish a molecular diagnosis. Part 3 focuses on antibody deficiencies, with primary forms of agammaglobulinemia as the main topic (Chapters 6, 7 and 8). As agammaglobulinemia can result from an arrest in precursor B-ee!! differentiation in the BM. we have used detailed immunophenotyping of BM samples for assessment of the precise differentiation arrest. for identifying possible target genes, and for studying possible genotype-immunophenotype relationships. Part 4 focuses on SCID, especially patients suffering from T-B-NK+ SCID or OS caused by mutations in the RAG genes (Chapters II and 12). Whenever available, the BM samples of these B- SCID patients were subjected to detailed immunophenotyping. Furthermore, we tried to unravel the residual recombination activity of mutated RAG proteins via several approaches. In addition to in vitro analyses with RAG gene transfection and subsequent recombination of a plasmid recombination substrate as read-out system. we used Ig gene rearrangement patterns in BM samples as an in vivo read-out system of RAG protein function. Finally, Part 5 describes two patients with mycobacterial infections due to mutations in the gene encoding the interferon gamma receptor I chain (IFNGRJ). Although both patients suffered from complete signaling defects from the IFN-yR, one patient died at young age while the other patient is still alive without BM transplantation, showing the variability in clinical phenotypes in patients suffering from complete IFN-[gamma]R signaling defects.

Reviews

User-contributed reviews
Retrieving GoodReads reviews...
Retrieving DOGObooks reviews...

Tags

Be the first.

Similar Items

Related Subjects:(1)

Confirm this request

You may have already requested this item. Please select Ok if you would like to proceed with this request anyway.

Linked Data


Primary Entity

<http://www.worldcat.org/oclc/780553325> # Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system
    a schema:Book, bgn:Thesis, schema:CreativeWork, schema:MediaObject, pto:Web_document ;
   bgn:inSupportOf "Thesis Erasmus University Rotterdam." ;
   library:oclcnum "780553325" ;
   library:placeOfPublication <http://id.loc.gov/vocabulary/countries/ne> ;
   library:placeOfPublication <http://experiment.worldcat.org/entity/work/data/50528867#Place/s_l> ; # S.l.
   library:placeOfPublication <http://experiment.worldcat.org/entity/work/data/50528867#Place/rotterdam> ; # Rotterdam
   schema:about <http://experiment.worldcat.org/entity/work/data/50528867#Topic/immunodeficientie> ; # Immunodeficiëntie
   schema:creator <http://viaf.org/viaf/291653210> ; # Jeroen Gijsbert Noordzij
   schema:datePublished "2002" ;
   schema:description "This thesis focuses on the immunological phenotype, the mutation analysis, and the residual activity of mutated proteins in patients with PID of the lymphoid system. During this project, we have investigated possible genotype-(immuno)phenotype relationships in patients with antibody deficiencies and SCID. Consequently, mutation analysis of the relevant genes formed an essential part of the study. Part 2 focuses on the laboratory diagnosis of patients with PID of the lymphoid system. In combination with clinical data. detailed immunophenotyping of PB and BM appeared to be essential to select possible candidate genes for mutation analysis (Chapter 2). Chapter 3 describes the pre-analytical. analytical, and post-analytical phases of mutation analysis and comments on the pitfalls that might occur when trying to establish a molecular diagnosis. Part 3 focuses on antibody deficiencies, with primary forms of agammaglobulinemia as the main topic (Chapters 6, 7 and 8). As agammaglobulinemia can result from an arrest in precursor B-ee!! differentiation in the BM. we have used detailed immunophenotyping of BM samples for assessment of the precise differentiation arrest. for identifying possible target genes, and for studying possible genotype-immunophenotype relationships. Part 4 focuses on SCID, especially patients suffering from T-B-NK+ SCID or OS caused by mutations in the RAG genes (Chapters II and 12). Whenever available, the BM samples of these B- SCID patients were subjected to detailed immunophenotyping. Furthermore, we tried to unravel the residual recombination activity of mutated RAG proteins via several approaches. In addition to in vitro analyses with RAG gene transfection and subsequent recombination of a plasmid recombination substrate as read-out system. we used Ig gene rearrangement patterns in BM samples as an in vivo read-out system of RAG protein function. Finally, Part 5 describes two patients with mycobacterial infections due to mutations in the gene encoding the interferon gamma receptor I chain (IFNGRJ). Although both patients suffered from complete signaling defects from the IFN-yR, one patient died at young age while the other patient is still alive without BM transplantation, showing the variability in clinical phenotypes in patients suffering from complete IFN-[gamma]R signaling defects." ;
   schema:exampleOfWork <http://worldcat.org/entity/work/id/50528867> ;
   schema:genre "Proefschriften (vorm)" ;
   schema:inLanguage "en" ;
   schema:isSimilarTo <http://worldcat.org/entity/work/data/50528867#CreativeWork/genotypic_and_phenotypic_aspects_of_primary_immunodeficiency_diseases_of_the_lymphoid_system> ;
   schema:name "Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system" ;
   schema:productID "780553325" ;
   schema:publication <http://www.worldcat.org/title/-/oclc/780553325#PublicationEvent/s_l_the_author_rotterdam_erasmus_university_host_2002_ridderkerk_ridderprint> ;
   schema:publisher <http://experiment.worldcat.org/entity/work/data/50528867#Agent/the_author> ; # [The Author]
   schema:publisher <http://experiment.worldcat.org/entity/work/data/50528867#Agent/erasmus_university_host> ; # Erasmus University [Host]
   schema:url <http://hdl.handle.net/1765/31933> ;
   schema:workExample <http://worldcat.org/isbn/9789073436596> ;
   wdrs:describedby <http://www.worldcat.org/title/-/oclc/780553325> ;
    .


Related Entities

<http://experiment.worldcat.org/entity/work/data/50528867#Agent/erasmus_university_host> # Erasmus University [Host]
    a bgn:Agent ;
   schema:name "Erasmus University [Host]" ;
    .

<http://experiment.worldcat.org/entity/work/data/50528867#Topic/immunodeficientie> # Immunodeficiëntie
    a schema:Intangible ;
   schema:name "Immunodeficiëntie" ;
    .

<http://viaf.org/viaf/291653210> # Jeroen Gijsbert Noordzij
    a schema:Person ;
   schema:birthDate "1972" ;
   schema:familyName "Noordzij" ;
   schema:givenName "Jeroen Gijsbert" ;
   schema:givenName "J.G" ;
   schema:name "Jeroen Gijsbert Noordzij" ;
    .

<http://worldcat.org/entity/work/data/50528867#CreativeWork/genotypic_and_phenotypic_aspects_of_primary_immunodeficiency_diseases_of_the_lymphoid_system>
    a schema:CreativeWork ;
   rdfs:label "Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system" ;
   schema:isSimilarTo <http://www.worldcat.org/oclc/780553325> ; # Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system
    .

<http://worldcat.org/isbn/9789073436596>
    a schema:ProductModel ;
   schema:isbn "9073436591" ;
   schema:isbn "9789073436596" ;
    .

<http://www.worldcat.org/title/-/oclc/780553325>
    a genont:InformationResource, genont:ContentTypeGenericResource ;
   schema:about <http://www.worldcat.org/oclc/780553325> ; # Genotypic and phenotypic aspects of primary immunodeficiency diseases of the lymphoid system
   schema:dateModified "2018-03-12" ;
   void:inDataset <http://purl.oclc.org/dataset/WorldCat> ;
    .


Content-negotiable representations

Close Window

Please sign in to WorldCat 

Don't have an account? You can easily create a free account.