Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion
Defects causing severe combined immunodeficiency (SCID) have been reported in pathways mediating antigen receptor rearrangement, antigen receptor and cytokine signaling, and purine metabolism. Recognizing that the actin regulator Coronin-1A is essential for development of a normal peripheral T cell...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 131(2009), 1 vom: 09. Apr., Seite 24-30
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| 1. Verfasser: |
Shiow, Lawrence R
(VerfasserIn) |
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| Weitere Verfasser: |
Paris, Kenneth,
Akana, Matthew C,
Cyster, Jason G,
Sorensen, Ricardo U,
Puck, Jennifer M |
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| Format: | Online-Aufsatz
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| Sprache: | English |
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| Veröffentlicht: |
2009
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| Zugriff auf das übergeordnete Werk: | Clinical immunology (Orlando, Fla.)
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| Schlagworte: | Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Microfilament Proteins
coronin proteins
145420-64-0
DNA
9007-49-2 |
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