{ "url": "https://dantelabs.com/tr/genes/tnfrsf13b", "gene": { "slug": "tnfrsf13b", "symbol": "TNFRSF13B", "name": "TNF receptor superfamily member 13B", "hgnc": "HGNC:18153", "summary": null, "location": "17p11.2", "locusType": "gene with protein product", "aliases": [ "TACI", "CD267", "IGAD2" ], "previousSymbols": [], "ensemblId": "ENSG00000240505", "entrezId": 23495, "omim": [ "604907" ], "uniprot": [ "O14836" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 16939081, "end": 16972118, "strand": "-", "ensemblTranscript": "ENST00000261652.7", "refseqTranscript": "NM_012452.3", "ensemblProtein": "ENSP00000261652.2", "refseqProtein": "NP_036584.1", "exons": [ { "start": 16939081, "end": 16939797 }, { "start": 16940326, "end": 16940511 }, { "start": 16948738, "end": 16948983 }, { "start": 16952446, "end": 16952583 }, { "start": 16972015, "end": 16972118 } ], "cds": { "start": 16939547, "end": 16972075 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 16832849, "end": 16875432, "strand": "-" }, "neighbourhood": { "release": "116", "start": 16455600, "end": 17455599, "genes": [ { "symbol": "LRRC75A", "ensemblId": "ENSG00000181350", "biotype": "protein_coding", "start": 16441493, "end": 16492237, "strand": "-", "slug": "lrrc75a" }, { "symbol": "ZNF287", "ensemblId": "ENSG00000141040", "biotype": "protein_coding", "start": 16546954, "end": 16569218, "strand": "-", "slug": "znf287" }, { "symbol": "ZNF624", "ensemblId": "ENSG00000197566", "biotype": "protein_coding", "start": 16620734, "end": 16653860, "strand": "-", "slug": "znf624" }, { "symbol": "CCDC144A", "ensemblId": "ENSG00000170160", "biotype": "protein_coding", "start": 16689537, "end": 16777974, "strand": "+", "slug": "ccdc144a" }, { "symbol": "", "ensemblId": "ENSG00000266302", "biotype": "protein_coding", "start": 16690261, "end": 16804453, "strand": "+" }, { "symbol": "MPRIP", "ensemblId": "ENSG00000133030", "biotype": "protein_coding", "start": 17042381, "end": 17217679, "strand": "+", "slug": "mprip" }, { "symbol": "PLD6", "ensemblId": "ENSG00000179598", "biotype": "protein_coding", "start": 17200622, "end": 17206369, "strand": "-", "slug": "pld6" }, { "symbol": "", "ensemblId": "ENSG00000264187", "biotype": "protein_coding", "start": 17202649, "end": 17237185, "strand": "-" }, { "symbol": "FLCN", "ensemblId": "ENSG00000154803", "biotype": "protein_coding", "start": 17212200, "end": 17237326, "strand": "-", "slug": "flcn" }, { "symbol": "COPS3", "ensemblId": "ENSG00000141030", "biotype": "protein_coding", "start": 17244686, "end": 17281311, "strand": "-", "slug": "cops3" }, { "symbol": "NT5M", "ensemblId": "ENSG00000205309", "biotype": "protein_coding", "start": 17303316, "end": 17347663, "strand": "+", "slug": "nt5m" } ], "truncated": false }, "reports": [ { "slug": "common-variable-immunodeficiency", "name": "Yaygın Değişken İmmün Yetmezlik (Monogenik CVID)", "diseases": [ { "mondoId": "MONDO:0015517", "name": "Yaygın değişken immün yetmezlik", "genes": 10, "inheritance": null, "description": "Düşük IgG ile birlikte düşük IgA ve/veya IgM ve zayıf aşı yanıtı; tek genli formlar arasında NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 ve TNFRSF13B (TACI) bulunur.", "management": "İmmünoglobulin replasmanı ve enfeksiyonların erken tedavisi standart uygulamadır; genetik bir neden, otoimmünite, lenfoma ve akciğer hastalığının izlenmesine yol açabilir ve LRBA yetmezliği gibi bazı formlar hedefe yönelik tedaviye yanıt verir.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/common-variable-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Diğer Doğuştan İmmün Yetmezlikler", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Bağışıklık yetmezliğinin kalıtsal formu", "genes": 114, "inheritance": null, "description": "Tek genlerdeki değişikliklerden kaynaklanan, vücudun enfeksiyonlarla savaşma veya iltihaplanmayı düzenleme becerisini etkileyen kalıtsal bağışıklık sistemi bozuklukları.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "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", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-lymphocyte-morphology", "name": "Abnormal lymphocyte morphology", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/abnormal-lymphocyte-morphology" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "combined-immunodeficiency", "name": "Combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/combined-immunodeficiency" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "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-iga-concentration" }, { "slug": "decreased-circulating-igg-concentration", "name": "Decreased circulating IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "follicular-hyperplasia", "name": "Follicular hyperplasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/follicular-hyperplasia" }, { "slug": "abnormal-t-cell-physiology", "name": "Impaired T cell function", "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/abnormal-t-cell-physiology" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide", "name": "Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "conjunctivitis", "name": "Pink eye", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/conjunctivitis" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" }, { "slug": "recurrent-bronchitis", "name": "Recurrent bronchitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-bronchitis" }, { "slug": "recurrent-infection-of-the-gastrointestinal-tract", "name": "Recurrent infection of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-infection-of-the-gastrointestinal-tract" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "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" ], "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": "obligate", "url": "https://dantelabs.com/traits/recurrent-sinusitis" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/lymphadenopathy" } ], "related": [ { "slug": "cd19", "symbol": "CD19", "name": "CD19 molecule", "shared": 3, "url": "https://dantelabs.com/tr/genes/cd19" }, { "slug": "cr2", "symbol": "CR2", "name": "complement C3d receptor 2", "shared": 3, "url": "https://dantelabs.com/tr/genes/cr2" }, { "slug": "icos", "symbol": "ICOS", "name": "inducible T cell costimulator", "shared": 3, "url": "https://dantelabs.com/tr/genes/icos" }, { "slug": "ikzf1", "symbol": "IKZF1", "name": "IKAROS family zinc finger 1", "shared": 3, "url": "https://dantelabs.com/tr/genes/ikzf1" }, { "slug": "irf2bp2", "symbol": "IRF2BP2", "name": "interferon regulatory factor 2 binding protein 2", "shared": 3, "url": "https://dantelabs.com/tr/genes/irf2bp2" }, { "slug": "lrba", "symbol": "LRBA", "name": "LPS responsive beige-like anchor protein", "shared": 3, "url": "https://dantelabs.com/tr/genes/lrba" }, { "slug": "nfkb1", "symbol": "NFKB1", "name": "nuclear factor kappa B subunit 1", "shared": 3, "url": "https://dantelabs.com/tr/genes/nfkb1" }, { "slug": "nfkb2", "symbol": "NFKB2", "name": "nuclear factor kappa B subunit 2", "shared": 3, "url": "https://dantelabs.com/tr/genes/nfkb2" }, { "slug": "sec61a1", "symbol": "SEC61A1", "name": "SEC61 translocon subunit alpha 1", "shared": 3, "url": "https://dantelabs.com/tr/genes/sec61a1" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/tr/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/tr/genes/bcl10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }