Genes associated with ectodermal dysplasia

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype
AIRE	Autoimmune regulator	AR	Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia
CTSC	Cathepsin C	AR	Haim-Munk syndrome, Papillion-Lefevre syndrome, and periodontitis
IKBKG	Inhibitor of nuclear factor kappa B kinase subunit gamma	XLR	Ectodermal dysplasia with immunodeficiency 1
NFKB2	Nuclear factor kappa B subunit 2	AD	Common variable immunodeficiency with central adrenal insufficiency
NFKBIA	Nuclear factor kappa B inhibitor alpha	AD	Ectodermal dysplasia with immunodeficiency 2
ORAI1	ORAI calcium release-activated calcium modulator 1	AR	Immune dysfunction with T cell inactivation due to calcium entry defect 1
STIM1	Stromal interaction molecule 1	AR	Immune dysfunction with T cell inactivation due to calcium entry defect 2

Clinical signs may be present that warrant evaluation for the presence of primary immunodeficiency. Please note that the above table is not comprehensive.

AR: autosomal recessive; XLR: X-linked recessive; AD: autosomal dominant; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.

Graphic 119233 Version 2.0

خرید پکیج

Genes associated with ectodermal dysplasia