Genes associated with early- or very-early-onset inflammatory bowel disease or enteropathy

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
ALPI	Intestinal alkaline phosphatase	AR	ALPI deficiency
ARPC1B	Actin-related protein 2/3 complex subunit 1B	AR	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
CD55	CD55 molecule (Cromer blood group)	AR	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
CTLA4	Cytotoxic T-lymphocyte-associated protein 4	AD	Autoimmune lymphoproliferative syndrome (ALPS), type V
CYBA	Cytochrome b-245 alpha chain	AR	CYBA-related chronic granulomatous disease
CYBB	Cytochrome b-245 beta chain	XLR	X-linked chronic granulomatous disease
CYBC1	Cytochrome b-254 chaperone 1	AR	Chronic granulomatous disease 5
DEF6	DEF6 guanine nucleotide exchange factor	AR	DEF6 deficiency
FCHO1	FCH domain only protein 1	AR	Immunodeficiency 76
FOXP3	Forkhead box P3	XLR	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome
IKBKG	Inhibitor of nuclear factor kappa B kinase subunit gamma	XLR	Ectodermal dysplasia with immunodeficiency 1
IL2RA	Interleukin 2 receptor subunit alpha	AR	Immunodeficiency 41 with lymphoproliferation and autoimmunity
IL2RB	Interleukin 2 receptor beta	AR	Immunodeficiency 63 with lymphoproliferation and autoimmunity
IL10	Interleukin 10	AR	Early-onset inflammatory bowel disease
IL10RA	Interleukin 10 receptor subunit alpha	AR	Early-onset inflammatory bowel disease 28
IL10RB	Interleukin 10 receptor subunit beta	AR	Early-onset inflammatory bowel disease 25
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
NCF1	Neutrophil cytosolic factor 1 (p47-phox)	AR	Chronic granulomatous disease 1
NCF2	Neutrophil cytosolic factor 2 (p67-phox)	AR	Chronic granulomatous disease 2
NCF4	Neutrophil cytosolic factor 4 (p40-phox)	AR	Chronic granulomatous disease 3
NLRC4	NLR family CARD domain-containing 4	AD	Familial cold autoinflammatory syndrome 4
NOD2	Nucleotide-binding oligomerization domain-containing 2	AD	Inflammatory bowel disease 1 (Crohn disease)
PIK3CD	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	AR	Immunodeficiency 14B
RELA	RelA protooncogene, NFkB subunit	AD	Chronic mucocutaneous ulceration
RIPK1	Receptor-interacting serine/threonine kinase 1	AR	Immunodeficiency 57 with autoinflammation
SKIV2L	SKI2-like RNA helicase	AR	Trichohepatoenteric syndrome 2
TGFB1	Transforming growth factor beta 1	AR	Inflammatory bowel disease, immunodeficiency, and encephalopathy
TNFAIP3	Tumor necrosis factor alpha-induced protein 3	AD	Behçet-like familial autoinflammatory syndrome
TRIM22	Tripartite motif-containing protein 22	AR	TRIM22 deficiency
TTC7A	Tetratricopeptide repeat domain 7A	AR	Gastrointestinal defects and immunodeficiency syndrome
TTC37	Tetratricopeptide repeat domain 37	AR	Trichohepatoenteric syndrome 1
WAS	Wiskott-Aldrich syndrome	XLR	Wiskott-Aldrich syndrome (WAS)/eczema, thrombocytopenia, and immunodeficiency
WDR1	WD repeat-containing protein 1	AR	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
XIAP	X-linked inhibitor of apoptosis	XLR	X-linked lymphoproliferative syndrome (XLP) 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; AD: autosomal dominant; XLR: X-linked recessive; NFkB: nuclear factor kappa B; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.

Graphic 119229 Version 3.0

خرید پکیج

Genes associated with early- or very-early-onset inflammatory bowel disease or enteropathy