Genes associated with early-onset endocrinopathies

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
AIRE	Autoimmune regulator	AR	Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia
CTLA4	Cytotoxic T-lymphocyte-associated protein 4	AD	Autoimmune lymphoproliferative syndrome, type V
FOXP3	Forkhead box P3	XLR	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome
ITCH	Itchy E3 ubiquitin protein ligase	AR	Multisystem autoimmune disease with facial dysmorphism
LRBA	LPS-responsive beige-like anchor protein	AR	Common variable immunodeficiency 8 with autoimmunity
MCM4	Minichromosome maintenance complex component 4	AR	Natural killer cell and glucocorticoid deficiency with DNA repair defect
NFKB2	Nuclear factor kappa B subunit 2	AD	Common variable immunodeficiency with central adrenal insufficiency
STAT1	Signal transducer and activator of transcription 1	AD	Immunodeficiency 31C
STAT3	Signal transducer and activator of transcription 3	AD	Autoimmune disease, multisystem, infantile onset
STAT5B	Signal transducer and activator of transcription 5B	AD, AR	Growth hormone insensitivity with immunodeficiency

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

Graphic 119236 Version 2.0

خرید پکیج

Genes associated with early-onset endocrinopathies