X-linked lymphoproliferative syndromes and related autosomal recessive disorders
PURPOSE OF REVIEW: X-linked lymphoproliferative (XLP) syndromes and related autosomal disorders are severe primary immune deficiencies triggered by infection with Epstein-Barr virus (EBV), the causative agent of infectious mononucleosis. Recent findings reviewed herein provided key new insights into the genetic and immunological basis of these diseases. They also improved our comprehension of the immunological mechanisms controlling EBV infection.
RECENT FINDINGS: Mutations of an X-linked gene, SH2D1A, which encodes the signaling lymphocytic activation molecule (SLAM)-associated protein (SAP), are responsible for most cases of XLP disorders. More recently, other genetic causes for XLP syndromes and autosomal recessive variants of this disease were elucidated. Mutations in genes such as XIAP, ITK, and CD27 were identified. The clinical manifestations and immunological defects seen in these patients were characterized.
SUMMARY: The similarities and differences in immunological defects and clinical manifestations between XLP syndromes and related autosomal recessive disorders enabled important new insights into the pathogenesis of these diseases. They also helped our comprehension of the mechanisms implicated in the control of EBV infection. They suggested that CD8+ T cells, natural killer (NK) cells, and NKT cells are critically involved.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2013 |
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| Erschienen: |
2013 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:13 |
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| Enthalten in: |
Current opinion in allergy and clinical immunology - 13(2013), 6 vom: 08. Dez., Seite 614-22 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Veillette, André [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 02.06.2014 Date Revised 16.11.2017 published: Print Citation Status MEDLINE |
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| doi: |
10.1097/ACI.0000000000000008 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM231580258 |
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| 100 | 1 | |a Veillette, André |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a X-linked lymphoproliferative syndromes and related autosomal recessive disorders |
| 264 | 1 | |c 2013 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 02.06.2014 | ||
| 500 | |a Date Revised 16.11.2017 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a PURPOSE OF REVIEW: X-linked lymphoproliferative (XLP) syndromes and related autosomal disorders are severe primary immune deficiencies triggered by infection with Epstein-Barr virus (EBV), the causative agent of infectious mononucleosis. Recent findings reviewed herein provided key new insights into the genetic and immunological basis of these diseases. They also improved our comprehension of the immunological mechanisms controlling EBV infection | ||
| 520 | |a RECENT FINDINGS: Mutations of an X-linked gene, SH2D1A, which encodes the signaling lymphocytic activation molecule (SLAM)-associated protein (SAP), are responsible for most cases of XLP disorders. More recently, other genetic causes for XLP syndromes and autosomal recessive variants of this disease were elucidated. Mutations in genes such as XIAP, ITK, and CD27 were identified. The clinical manifestations and immunological defects seen in these patients were characterized | ||
| 520 | |a SUMMARY: The similarities and differences in immunological defects and clinical manifestations between XLP syndromes and related autosomal recessive disorders enabled important new insights into the pathogenesis of these diseases. They also helped our comprehension of the mechanisms implicated in the control of EBV infection. They suggested that CD8+ T cells, natural killer (NK) cells, and NKT cells are critically involved | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Review | |
| 650 | 7 | |a Intracellular Signaling Peptides and Proteins |2 NLM | |
| 650 | 7 | |a SH2D1A protein, human |2 NLM | |
| 650 | 7 | |a Signaling Lymphocytic Activation Molecule Associated Protein |2 NLM | |
| 650 | 7 | |a Tumor Necrosis Factor Receptor Superfamily, Member 7 |2 NLM | |
| 650 | 7 | |a X-Linked Inhibitor of Apoptosis Protein |2 NLM | |
| 650 | 7 | |a XIAP protein, human |2 NLM | |
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| 700 | 1 | |a Pérez-Quintero, Luis-Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Latour, Sylvain |e verfasserin |4 aut | |
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