{ "url": "https://dantelabs.com/tr/genes/ikbkb", "gene": { "slug": "ikbkb", "symbol": "IKBKB", "name": "inhibitor of nuclear factor kappa B kinase subunit beta", "hgnc": "HGNC:5960", "summary": null, "location": "8p11.21", "locusType": "gene with protein product", "aliases": [ "IKK2", "NFKBIKB", "IKK-beta", "IKKB" ], "previousSymbols": [], "ensemblId": "ENSG00000104365", "entrezId": 3551, "omim": [ "603258" ], "uniprot": [ "O14920" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "8", "start": 42271302, "end": 42332460, "strand": "+", "ensemblTranscript": "ENST00000520810.6", "refseqTranscript": "NM_001556.3", "ensemblProtein": "ENSP00000430684.1", "refseqProtein": "NP_001547.1", "exons": [ { "start": 42271302, "end": 42271469 }, { "start": 42272083, "end": 42272205 }, { "start": 42288634, "end": 42288728 }, { "start": 42290156, "end": 42290273 }, { "start": 42293443, "end": 42293512 }, { "start": 42305187, "end": 42305275 }, { "start": 42306343, "end": 42306432 }, { "start": 42308901, "end": 42309025 }, { "start": 42314322, "end": 42314429 }, { "start": 42316210, "end": 42316339 }, { "start": 42316710, "end": 42316904 }, { "start": 42317657, "end": 42317771 }, { "start": 42318552, "end": 42318675 }, { "start": 42319270, "end": 42319421 }, { "start": 42319585, "end": 42319646 }, { "start": 42320735, "end": 42320844 }, { "start": 42321896, "end": 42321945 }, { "start": 42322054, "end": 42322153 }, { "start": 42322347, "end": 42322494 }, { "start": 42325970, "end": 42326097 }, { "start": 42329124, "end": 42329214 }, { "start": 42330914, "end": 42332460 } ], "cds": { "start": 42272101, "end": 42330979 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "8", "start": 42128820, "end": 42189973, "strand": "+" }, "neighbourhood": { "release": "116", "start": 41801881, "end": 42801880, "genes": [ { "symbol": "ANK1", "ensemblId": "ENSG00000029534", "biotype": "protein_coding", "start": 41653220, "end": 41896812, "strand": "-", "slug": "ank1" }, { "symbol": "KAT6A", "ensemblId": "ENSG00000083168", "biotype": "protein_coding", "start": 41929479, "end": 42051998, "strand": "-", "slug": "kat6a" }, { "symbol": "AP3M2", "ensemblId": "ENSG00000070718", "biotype": "protein_coding", "start": 42152946, "end": 42171673, "strand": "+", "slug": "ap3m2" }, { "symbol": "PLAT", "ensemblId": "ENSG00000104368", "biotype": "protein_coding", "start": 42174718, "end": 42207709, "strand": "-", "slug": "plat" }, { "symbol": "POLB", "ensemblId": "ENSG00000070501", "biotype": "protein_coding", "start": 42338454, "end": 42373513, "strand": "+", "slug": "polb" }, { "symbol": "DKK4", "ensemblId": "ENSG00000104371", "biotype": "protein_coding", "start": 42373195, "end": 42384830, "strand": "-", "slug": "dkk4" }, { "symbol": "VDAC3", "ensemblId": "ENSG00000078668", "biotype": "protein_coding", "start": 42391624, "end": 42407493, "strand": "+", "slug": "vdac3" }, { "symbol": "SLC20A2", "ensemblId": "ENSG00000168575", "biotype": "protein_coding", "start": 42416449, "end": 42542530, "strand": "-", "slug": "slc20a2" }, { "symbol": "SMIM19", "ensemblId": "ENSG00000176209", "biotype": "protein_coding", "start": 42541132, "end": 42555195, "strand": "+", "slug": "smim19" }, { "symbol": "CHRNB3", "ensemblId": "ENSG00000147432", "biotype": "protein_coding", "start": 42697341, "end": 42738553, "strand": "+", "slug": "chrnb3" }, { "symbol": "CHRNA6", "ensemblId": "ENSG00000147434", "biotype": "protein_coding", "start": 42752620, "end": 42796392, "strand": "-", "slug": "chrna6" } ], "truncated": false }, "reports": [ { "slug": "severe-combined-immunodeficiency", "name": "Ağır Kombine İmmün Yetmezlik", "diseases": [ { "mondoId": "MONDO:0015974", "name": "Ağır Kombine İmmün Yetmezlik", "genes": 31, "inheritance": "autosomal-recessive", "description": "Ağır kombine immün yetmezlik (SCID), fonksiyonel periferik T lenfositlerinin eksikliğiyle karakterize, erken başlangıçlı ağır solunum yolu enfeksiyonlarına ve gelişme geriliğine yol açan, nadir monogenik primer immün yetmezlik hastalıkları grubudur. İmmünolojik fenotipe göre, T hücrelerinin yokluğu ancak B hücrelerinin varlığıyla seyreden SCID (T-B+ SCID) veya her ikisinin de yokluğuyla seyreden SCID (T-B- SCID) olarak sınıflandırılır. Bu gruplardan her ikisi de doğal öldürücü (NK) hücrelerin varlığı veya yokluğuna bağlı olarak birkaç formu içerir.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/severe-combined-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Diğer Doğuştan İmmün Yetmezlikler", "diseases": [ { "mondoId": "MONDO:0021094", "name": "İmmün Yetmezlik Hastalığı", "genes": 170, "inheritance": null, "description": "Hücresel veya humoral bağışıklık mekanizmalarında eksiklik ya da bozukluk bulunan hastalık.", "management": "Ağır kombine immün yetmezlik (SCID) ve ağır primer immün yetmezlikler için HSCT; antikor eksikliklerinde immünoglobulin replasmanı (IVIG/SCIG); APDS için lenyolisib (Joenja, FDA 2023); ADA-SCID için gen tedavisi; CTLA4/LRBA eksikliği için abatasept; profilaktik antibiyotikler; KGH için G-CSF", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acne-inversa", "name": "Acne inversa", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acne-inversa" }, { "slug": "agammaglobulinemia", "name": "Agammaglobulinemia", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agammaglobulinemia" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "recurrent-oral-thrush", "name": "Chronic oral thrush", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-oral-thrush" }, { "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" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "decreased-memory-b-cell-proportion", "name": "Decreased memory B cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-memory-b-cell-proportion" }, { "slug": "decreased-mitogen-induced-t-cell-proliferation", "name": "Decreased mitogen-induced T-cell proliferation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-mitogen-induced-t-cell-proliferation" }, { "slug": "decreased-total-cd4-t-cell-proportion", "name": "Decreased total CD4+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion" }, { "slug": "decreased-total-cd8-t-cell-proportion", "name": "Decreased total CD8+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-cd8-t-cell-proportion" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "increased-total-monocyte-count", "name": "High blood monocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-monocyte-count" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-mucocutaneous-candidiasis", "name": "Recurrent mucocutaneous candidiasis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-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": "frequent", "url": "https://dantelabs.com/traits/recurrent-sinusitis" }, { "slug": "reduced-total-natural-killer-cell-count", "name": "Reduced total natural killer cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count" }, { "slug": "cutaneous-abscess", "name": "Skin abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cutaneous-abscess" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 2, "url": "https://dantelabs.com/tr/genes/ada" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/ak2" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/tr/genes/bcl11b" }, { "slug": "card11", "symbol": "CARD11", "name": "caspase recruitment domain family member 11", "shared": 2, "url": "https://dantelabs.com/tr/genes/card11" }, { "slug": "carmil2", "symbol": "CARMIL2", "name": "capping protein regulator and myosin 1 linker 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/carmil2" }, { "slug": "cd247", "symbol": "CD247", "name": "CD247 molecule", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd247" }, { "slug": "cd3d", "symbol": "CD3D", "name": "CD3 delta subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd3d" }, { "slug": "cd3e", "symbol": "CD3E", "name": "CD3 epsilon subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd3e" }, { "slug": "cd70", "symbol": "CD70", "name": "CD70 molecule", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd70" }, { "slug": "ciita", "symbol": "CIITA", "name": "class II major histocompatibility complex transactivator", "shared": 2, "url": "https://dantelabs.com/tr/genes/ciita" }, { "slug": "coro1a", "symbol": "CORO1A", "name": "coronin 1A", "shared": 2, "url": "https://dantelabs.com/tr/genes/coro1a" }, { "slug": "dclre1c", "symbol": "DCLRE1C", "name": "DNA cross-link repair 1C", "shared": 2, "url": "https://dantelabs.com/tr/genes/dclre1c" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }