Comprehensive insights into pathogenesis, diagnosis, treatment, and prognosis in adult autoimmune enteropathy

Table 1 Gene variants associated with autoimmune enteropathy

Condition	Associated genetic variants	Gene Function	Clinical presentation related to the pathogenic genetic variants
IPEX	FOXP3	Regulatory T cells function	X-linked, endocrinopathy (type 1 DM, thyroiditis), AIE, dermatitis (eczema)
APECED	AIRE	Immune tolerance and elimination of autoreactive T cell	Autosomal recessive, candidiasis, hypoparathyroidism, adrenal insufficiency
Adult AIE	CTLA4	Regulatory T cell function, transmits inhibitory signal to T cells	Celiac disease, insulin-dependent DM, Hashimoto thyroiditis, systemic lupus erythematosus, CHAI
	TNFRSF13B	Play a crucial role in humoral immunity by interacting with a TNF ligand	Immunoglobulin A deficiency 2, CVID 2
	STAT3	transcription activators	Infantile-onset multisystem autoimmune disease (insulin-dependent DM, AIE, or celiac disease, autoimmune hematologic disorders), hyper-immunoglobulin E syndrome.
	LRBA	LRBA regulates CTLA4 expression, LRBA deficiency leads to reduced CTLA4 in regulatory T cells and activated T cells.	CVID 8, LATAIE
	C1S	A major constituent of the human complement subcomponent C1	C1s deficiency, Ehlers-Danlos syndrome periodontal type 2
	STAT1	Helper T cell response	Immunodeficiency
	NFKB1	Pleiotropic transcription factor	CVID 12
	ICOS	Enhances all basic T-cell responses to a foreign antigen	CVID 1

IPEX, immune-dysregulation poly-endocrinopathy enteropathy X-linked syndrome; APECED, autoimmune poly-endocrinopathy, candidiasis, and ectodermal dystrophy; FOXP3, Forkhead Box P3; AIRE, autoimmune regulator; CTLA-4, cytotoxic T-lymphocyte associated protein 4; TNFRSF13B, tumor necrosis factor receptor superfamily member 13B; STAT3, signal transducer and activator of transcription 3; LRBA, lipopolysaccharide-responsive and beige-like anchor protein; C1S, Complement C1s; STAT1, signal transducer and activator of transcription 1; NFKB1, nuclear factor kappa B subunit 1; ICOS, Inducible T Cell Co-stimulator; DM, diabetes mellitus; AIE, autoimmune enteropathy; CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration; CVID, common variable immunodeficiency; LATAIE, LRBA deficiency with autoantibodies, regulatory T cell defects, autoimmune infiltration and enteropathy

ISSN: 1750-1172