000			02174 a2200637 4500
005			20250516152343.0
264		0	_c20131210
008			201312s 0 0 eng d
022			_a1573-2592
024	7		_a10.1007/s10875-013-9906-1 _2doi
040			_aNLM _beng _cNLM
100	1		_aSchimke, Lena F
245	0	0	_aA novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. _h[electronic resource]
260			_bJournal of clinical immunology _cAug 2013
300			_a1088-99 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aActive Transport, Cell Nucleus _xgenetics
650	0	4	_aCell Nucleus _xmetabolism
650	0	4	_aChild, Preschool
650	0	4	_aCytokines _ximmunology
650	0	4	_aEctodermal Dysplasia _ximmunology
650	0	4	_aFibroblasts _ximmunology
650	0	4	_aHeLa Cells
650	0	4	_aHumans
650	0	4	_aI-kappa B Kinase _xgenetics
650	0	4	_aImmunologic Deficiency Syndromes _ximmunology
650	0	4	_aInfant
650	0	4	_aLymphocyte Activation _xgenetics
650	0	4	_aMale
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPolyendocrinopathies, Autoimmune _ximmunology
650	0	4	_aProteolysis
650	0	4	_aTh17 Cells _ximmunology
650	0	4	_aTransgenes _xgenetics
700	1		_aRieber, Nikolaus
700	1		_aRylaarsdam, Stacey
700	1		_aCabral-Marques, Otávio
700	1		_aHubbard, Nicholas
700	1		_aPuel, Anne
700	1		_aKallmann, Laura
700	1		_aSombke, Stephanie Anover
700	1		_aNotheis, Gundula
700	1		_aSchwarz, Hans-Peter
700	1		_aKammer, Birgit
700	1		_aHökfelt, Tomas
700	1		_aRepp, Reinald
700	1		_aPicard, Capucine
700	1		_aCasanova, Jean-Laurent
700	1		_aBelohradsky, Bernd H
700	1		_aAlbert, Michael H
700	1		_aOchs, Hans D
700	1		_aRenner, Ellen D
700	1		_aTorgerson, Troy R
773	0		_tJournal of clinical immunology _gvol. 33 _gno. 6 _gp. 1088-99
856	4	0	_uhttps://doi.org/10.1007/s10875-013-9906-1 _zAvailable from publisher's website
999			_c22781959 _d22781959