PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders
The vast majority of patients suffering from a primary immunodeficiency (PID) have defects in their T- and/or B-cell compartments. Despite advances in molecular diagnostics, in many patients no underlying genetic defect has been identified. B- and T-lymphocytes are unique in their ability to create...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2011-05-01
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| Series: | Frontiers in Immunology |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fimmu.2011.00012/full |
| _version_ | 1811231881767682048 |
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| author | Menno C. Van Zelm Mirjam eVan Der Burg Anton W. Langerak Jacques J.M. Van Dongen |
| author_facet | Menno C. Van Zelm Mirjam eVan Der Burg Anton W. Langerak Jacques J.M. Van Dongen |
| author_sort | Menno C. Van Zelm |
| collection | DOAJ |
| description | The vast majority of patients suffering from a primary immunodeficiency (PID) have defects in their T- and/or B-cell compartments. Despite advances in molecular diagnostics, in many patients no underlying genetic defect has been identified. B- and T-lymphocytes are unique in their ability to create a receptor by genomic rearrangement of their antigen receptor genes via V(D)J recombination. During this process, stable circular excision products are formed that do not replicate when the cell proliferates. Excision circles can be reliably quantified using real-time quantitative (RQ-)PCR techniques. Frequently occurring δREC–ψJα T-cell receptor excision circles (TRECs) have been used to assess thymic output and intronRSS–Kde recombination excision circles (KREC) to quantify B-cell replication history. In this perspective, we describe how TRECs and KRECs are formed during precursor- T and B cell differentiation, respectively. Furthermore, we discuss new insights obtained with TRECs and KRECs and specifically how these excision circles can be applied to support therapy monitoring, patient classification and newborn screening of PID. |
| first_indexed | 2024-04-12T10:52:20Z |
| format | Article |
| id | doaj.art-b0e135c7fd6846e09ee1ad7e7d79c5e1 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-12T10:52:20Z |
| publishDate | 2011-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-b0e135c7fd6846e09ee1ad7e7d79c5e12022-12-22T03:36:11ZengFrontiers Media S.A.Frontiers in Immunology1664-32242011-05-01210.3389/fimmu.2011.000129937PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disordersMenno C. Van Zelm0Mirjam eVan Der Burg1Anton W. Langerak2Jacques J.M. Van Dongen3Erasmus MC, University Medical CenterErasmus MC, University Medical CenterErasmus MC, University Medical CenterErasmus MC, University Medical CenterThe vast majority of patients suffering from a primary immunodeficiency (PID) have defects in their T- and/or B-cell compartments. Despite advances in molecular diagnostics, in many patients no underlying genetic defect has been identified. B- and T-lymphocytes are unique in their ability to create a receptor by genomic rearrangement of their antigen receptor genes via V(D)J recombination. During this process, stable circular excision products are formed that do not replicate when the cell proliferates. Excision circles can be reliably quantified using real-time quantitative (RQ-)PCR techniques. Frequently occurring δREC–ψJα T-cell receptor excision circles (TRECs) have been used to assess thymic output and intronRSS–Kde recombination excision circles (KREC) to quantify B-cell replication history. In this perspective, we describe how TRECs and KRECs are formed during precursor- T and B cell differentiation, respectively. Furthermore, we discuss new insights obtained with TRECs and KRECs and specifically how these excision circles can be applied to support therapy monitoring, patient classification and newborn screening of PID.http://journal.frontiersin.org/Journal/10.3389/fimmu.2011.00012/fullAgammaglobulinemiaV(D)J RecombinationB cellT cellSCIDKREC |
| spellingShingle | Menno C. Van Zelm Mirjam eVan Der Burg Anton W. Langerak Jacques J.M. Van Dongen PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders Frontiers in Immunology Agammaglobulinemia V(D)J Recombination B cell T cell SCID KREC |
| title | PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders |
| title_full | PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders |
| title_fullStr | PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders |
| title_full_unstemmed | PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders |
| title_short | PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders |
| title_sort | pid comes full circle applications of v d j recombination excision circles in research diagnostics and newborn screening of primary immunodeficiency disorders |
| topic | Agammaglobulinemia V(D)J Recombination B cell T cell SCID KREC |
| url | http://journal.frontiersin.org/Journal/10.3389/fimmu.2011.00012/full |
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