{ "url": "https://dantelabs.com/sv/genes/nfkb1", "gene": { "slug": "nfkb1", "symbol": "NFKB1", "name": "nuclear factor kappa B subunit 1", "hgnc": "HGNC:7794", "summary": null, "location": "4q24", "locusType": "gene with protein product", "aliases": [ "KBF1", "p105", "NFKB-p50", "p50", "NF-kappaB", "NFkappaB", "NF-kB1" ], "previousSymbols": [], "ensemblId": "ENSG00000109320", "entrezId": 4790, "omim": [ "164011" ], "uniprot": [ "P19838" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 102501359, "end": 102617302, "strand": "+", "ensemblTranscript": "ENST00000226574.9", "refseqTranscript": "NM_003998.4", "ensemblProtein": "ENSP00000226574.4", "refseqProtein": "NP_003989.2", "exons": [ { "start": 102501359, "end": 102501788 }, { "start": 102525512, "end": 102525557 }, { "start": 102529836, "end": 102529914 }, { "start": 102533845, "end": 102533885 }, { "start": 102537858, "end": 102537956 }, { "start": 102566987, "end": 102567135 }, { "start": 102576876, "end": 102577039 }, { "start": 102578881, "end": 102579039 }, { "start": 102580535, "end": 102580639 }, { "start": 102582866, "end": 102582957 }, { "start": 102584682, "end": 102584820 }, { "start": 102593425, "end": 102593568 }, { "start": 102594892, "end": 102594981 }, { "start": 102596138, "end": 102596332 }, { "start": 102597520, "end": 102597661 }, { "start": 102600895, "end": 102601009 }, { "start": 102606496, "end": 102606697 }, { "start": 102607150, "end": 102607319 }, { "start": 102607649, "end": 102607751 }, { "start": 102610575, "end": 102610699 }, { "start": 102612044, "end": 102612110 }, { "start": 102612434, "end": 102612606 }, { "start": 102613425, "end": 102613581 }, { "start": 102616434, "end": 102617302 } ], "cds": { "start": 102525519, "end": 102616594 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 103422486, "end": 103538459, "strand": "+" }, "neighbourhood": { "release": "116", "start": 102059331, "end": 103059330, "genes": [ { "symbol": "BANK1", "ensemblId": "ENSG00000153064", "biotype": "protein_coding", "start": 101411286, "end": 102074904, "strand": "+", "slug": "bank1" }, { "symbol": "SLC39A8", "ensemblId": "ENSG00000138821", "biotype": "protein_coding", "start": 102251037, "end": 102431258, "strand": "-", "slug": "slc39a8" }, { "symbol": "MANBA", "ensemblId": "ENSG00000109323", "biotype": "protein_coding", "start": 102630770, "end": 102761000, "strand": "-", "slug": "manba" }, { "symbol": "UBE2D3", "ensemblId": "ENSG00000109332", "biotype": "protein_coding", "start": 102793516, "end": 102869287, "strand": "-", "slug": "ube2d3" }, { "symbol": "CISD2", "ensemblId": "ENSG00000145354", "biotype": "protein_coding", "start": 102868738, "end": 102903259, "strand": "+", "slug": "cisd2" }, { "symbol": "SLC9B1", "ensemblId": "ENSG00000164037", "biotype": "protein_coding", "start": 102870501, "end": 103019793, "strand": "-", "slug": "slc9b1" }, { "symbol": "SLC9B2", "ensemblId": "ENSG00000164038", "biotype": "protein_coding", "start": 103019868, "end": 103085829, "strand": "-", "slug": "slc9b2" } ], "truncated": false }, "reports": [ { "slug": "common-variable-immunodeficiency", "name": "Common Variable Immunodeficiency (monogen CVID)", "diseases": [ { "mondoId": "MONDO:0015517", "name": "Common variable immunodeficiency", "genes": 10, "inheritance": null, "description": "Låg IgG med låg IgA och/eller IgM och dålig vaccinrespons; monogena former omfattar NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 och TNFRSF13B (TACI).", "management": "Immunglobulinersättning och tidig behandling av infektioner är standard; en genetisk orsak kan vägleda uppföljningen för autoimmunitet, lymfom och lungsjukdom, och vissa former (till exempel LRBA-brist) svarar på riktad behandling.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/common-variable-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Andra medfödda immunbristsjukdomar", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Medfödd immunbrist", "genes": 114, "inheritance": null, "description": "Ärftliga sjukdomar i immunsystemet orsakade av förändringar i enskilda gener, som påverkar hur kroppen bekämpar infektioner eller reglerar inflammation.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immunbristsjukdom", "genes": 170, "inheritance": null, "description": "Sjukdom där det finns en brist eller defekt i immunförsvarets mekanismer, antingen cellulära eller humorala.", "management": "HSCT vid SCID och allvarliga PID; immunglobulinersättning (IVIG/SCIG) vid antikroppsbrist; leniolisib (Joenja, FDA 2023) vid APDS; genterapi vid ADA-SCID; abatacept vid CTLA4- och LRBA-brist; profylaktiska antibiotika; G-CSF vid CGD", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "atrophic-gastritis", "name": "Atrophic gastritis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrophic-gastritis" }, { "slug": "autoimmune-hemolytic-anemia", "name": "Autoimmune hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia" }, { "slug": "chronic-pulmonary-obstruction", "name": "Chronic pulmonary obstruction", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-pulmonary-obstruction" }, { "slug": "combined-immunodeficiency", "name": "Combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/combined-immunodeficiency" }, { "slug": "decreased-circulating-immunoglobulin-concentration", "name": "Decreased circulating antibody level", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "pyoderma-gangrenosum", "name": "Pyoderma gangrenosum", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyoderma-gangrenosum" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "recurrent-sinopulmonary-infections", "name": "Recurrent sinus and lung infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections" }, { "slug": "recurrent-sinusitis", "name": "Recurrent sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-sinusitis" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-skin-infections" } ], "related": [ { "slug": "cd19", "symbol": "CD19", "name": "CD19 molecule", "shared": 3, "url": "https://dantelabs.com/sv/genes/cd19" }, { "slug": "cr2", "symbol": "CR2", "name": "complement C3d receptor 2", "shared": 3, "url": "https://dantelabs.com/sv/genes/cr2" }, { "slug": "icos", "symbol": "ICOS", "name": "inducible T cell costimulator", "shared": 3, "url": "https://dantelabs.com/sv/genes/icos" }, { "slug": "ikzf1", "symbol": "IKZF1", "name": "IKAROS family zinc finger 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/ikzf1" }, { "slug": "irf2bp2", "symbol": "IRF2BP2", "name": "interferon regulatory factor 2 binding protein 2", "shared": 3, "url": "https://dantelabs.com/sv/genes/irf2bp2" }, { "slug": "lrba", "symbol": "LRBA", "name": "LPS responsive beige-like anchor protein", "shared": 3, "url": "https://dantelabs.com/sv/genes/lrba" }, { "slug": "nfkb2", "symbol": "NFKB2", "name": "nuclear factor kappa B subunit 2", "shared": 3, "url": "https://dantelabs.com/sv/genes/nfkb2" }, { "slug": "sec61a1", "symbol": "SEC61A1", "name": "SEC61 translocon subunit alpha 1", "shared": 3, "url": "https://dantelabs.com/sv/genes/sec61a1" }, { "slug": "tnfrsf13b", "symbol": "TNFRSF13B", "name": "TNF receptor superfamily member 13B", "shared": 3, "url": "https://dantelabs.com/sv/genes/tnfrsf13b" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/sv/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/sv/genes/bcl10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }