Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region

Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region

We evaluated a baby boy with severe combined immunodeficiency (SCID) and X-linked nephrogenic diabetes insipidus (NDI). This patient had less than 10% CD3+ T cells, almost all of which were positive for CD4 and CD45RO. Genetic studies demonstrated a 34.4 kb deletion at Xq28 which included AVPR2, the...

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Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 120(2006), 2 vom: 15. Aug., Seite 147-55
1. Verfasser: Broides, Arnon (VerfasserIn)
Weitere Verfasser: Ault, Bettina H, Arthus, Marie-Françoise, Bichet, Daniel G, Conley, Mary Ellen
Format: Aufsatz
Sprache:English
Veröffentlicht: 2006
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't ARHGAP4 protein, human GTPase-Activating Proteins Neural Cell Adhesion Molecule L1 Receptors, Vasopressin Acetyltransferases EC 2.3.1.- mehr... N-Terminal Acetyltransferase A EC 2.3.1.254 NAA10 protein, human EC 2.3.1.255 N-Terminal Acetyltransferase E EC 2.3.1.258