Požymis
Decreased immune function
Klinikinis pavadinimas: Immunodeficiency
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Santrauka
- Taip pat vadinama
- Immune deficiency
- Kūno sistema
- Abnormality of the immune system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test173 genų susiję su Decreased immune function
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Decreased immune function. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AK2adenylate kinase 2 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARPC5actin related protein 2/3 complex subunit 5 | Visada | 1 ligoje |
| CARD11caspase recruitment domain family member 11 | Visada | 1 ligoje |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Visada | 1 ligoje |
| CORO1Acoronin 1A | Visada | 1 ligoje |
| DCLRE1BDNA cross-link repair 1B | Visada | 1 ligoje |
| DCLRE1CDNA cross-link repair 1C | Visada | 1 ligoje |
| DPP9dipeptidyl peptidase 9 | Visada | 1 ligoje |
| GATA2GATA binding protein 2 | Visada | 1 ligoje |
| GUK1guanylate kinase 1 | Visada | 1 ligoje |
| HYOU1hypoxia up-regulated 1 | Visada | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Visada | 2 ligose |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| LCKLCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| LCP2lymphocyte cytosolic protein 2 | Visada | 1 ligoje |
| MALT1MALT1 paracaspase | Visada | 1 ligoje |
| MAN2B2mannosidase alpha class 2B member 2 | Visada | 1 ligoje |
| MCM10minichromosome maintenance 10 replication initiation factor | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 2 ligose |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
| RAG1recombination activating 1 | Visada | 2 ligose |
| RAG2recombination activating 2 | Visada | 1 ligoje |
| RNF31ring finger protein 31 | Visada | 1 ligoje |
| SIK3SIK family kinase 3 | Visada | 1 ligoje |
| SLC19A1solute carrier family 19 member 1 | Visada | 1 ligoje |
| STAT1signal transducer and activator of transcription 1 | Visada | 3 ligose |
| STIM1stromal interaction molecule 1 | Visada | 1 ligoje |
| STK4serine/threonine kinase 4 | Visada | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Labai dažnai (80–99%) | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Labai dažnai (80–99%) | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Labai dažnai (80–99%) | 1 ligoje |
| ATMATM serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BLNKB cell linker | Labai dažnai (80–99%) | 1 ligoje |
| BTKBruton tyrosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| CD79ACD79a molecule | Labai dažnai (80–99%) | 1 ligoje |
| CD79BCD79b molecule | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 133 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CDCA7cell division cycle associated 7 | Labai dažnai (80–99%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Labai dažnai (80–99%) | 2 ligose |
| DNMT3BDNA methyltransferase 3 beta | Labai dažnai (80–99%) | 2 ligose |
| FOXN1forkhead box N1 | Labai dažnai (80–99%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| HELLShelicase, lymphoid specific | Labai dažnai (80–99%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Labai dažnai (80–99%) | 1 ligoje |
| IGHMimmunoglobulin heavy constant mu | Labai dažnai (80–99%) | 1 ligoje |
| IGLL1immunoglobulin lambda like polypeptide 1 | Labai dažnai (80–99%) | 1 ligoje |
| IL12RB1interleukin 12 receptor subunit beta 1 | Labai dažnai (80–99%) | 2 ligose |
| IRAK4interleukin 1 receptor associated kinase 4 | Labai dažnai (80–99%) | 2 ligose |
| JMJD1Cjumonji domain containing 1C | Labai dažnai (80–99%) | 1 ligoje |
| LAMTOR2late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 | Labai dažnai (80–99%) | 2 ligose |
| LIG4DNA ligase 4 | Labai dažnai (80–99%) | 1 ligoje |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Labai dažnai (80–99%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Labai dažnai (80–99%) | 2 ligose |
| MAN2B1mannosidase alpha class 2B member 1 | Labai dažnai (80–99%) | 2 ligose |
| MYD88MYD88 innate immune signal transduction adaptor | Labai dažnai (80–99%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Labai dažnai (80–99%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Labai dažnai (80–99%) | 2 ligose |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| POLEDNA polymerase epsilon, catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| RAB27ARAB27A, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAC2Rac family small GTPase 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNF168ring finger protein 168 | Labai dažnai (80–99%) | 2 ligose |
| RREB1ras responsive element binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Labai dažnai (80–99%) | 2 ligose |
| SEC24CSEC24 homolog C, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| SKIC2SKI2 subunit of superkiller complex | Labai dažnai (80–99%) | 2 ligose |
| SKIC3SKI3 subunit of superkiller complex | Labai dažnai (80–99%) | 1 ligoje |
| SPI1Spi-1 proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCF3transcription factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| TERCtelomerase RNA component | Labai dažnai (80–99%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Labai dažnai (80–99%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Labai dažnai (80–99%) | 1 ligoje |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| WASWASP actin nucleation promoting factor | Labai dažnai (80–99%) | 1 ligoje |
| XIAPX-linked inhibitor of apoptosis | Labai dažnai (80–99%) | 3 ligose |
| ZBTB24zinc finger and BTB domain containing 24 | Labai dažnai (80–99%) | 2 ligose |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Dažnai (30–79%) | 2 ligose |
| ATRXATRX chromatin remodeler | Dažnai (30–79%) | 2 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Dažnai (30–79%) | 1 ligoje |
| CD28CD28 molecule | Dažnai (30–79%) | 1 ligoje |
| CDH23cadherin related 23 | Dažnai (30–79%) | 1 ligoje |
| CHD1chromodomain helicase DNA binding protein 1 | Dažnai (30–79%) | 2 ligose |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Dažnai (30–79%) | 2 ligose |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MMUTmethylmalonyl-CoA mutase | Dažnai (30–79%) | 1 ligoje |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 2 ligose |
| RNU6ATACRNA, U6atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| TNFRSF1BTNF receptor superfamily member 1B | Dažnai (30–79%) | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Dažnai (30–79%) | 1 ligoje |
| TP53tumor protein p53 | Dažnai (30–79%) | 1 ligoje |
| TTC7Atetratricopeptide repeat domain 7A | Dažnai (30–79%) | 1 ligoje |
| USP48ubiquitin specific peptidase 48 | Dažnai (30–79%) | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Dažnai (30–79%) | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| LMNB2lamin B2 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MEIS2Meis homeobox 2 | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| SLC46A1solute carrier family 46 member 1 | Kartais (5–29%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Kartais (5–29%) | 1 ligoje |
| TICAM1TIR domain containing adaptor molecule 1 | Kartais (5–29%) | 1 ligoje |
| TLR3toll like receptor 3 | Kartais (5–29%) | 1 ligoje |
| TRAF3TNF receptor associated factor 3 | Kartais (5–29%) | 1 ligoje |
| UNC93B1unc-93B1 regulator of TLR signaling | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Retai (1–4 %) | 1 ligoje |
| CUBNcubilin | Retai (1–4 %) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Retai (1–4 %) | 1 ligoje |
| EFL1elongation factor like GTPase 1 | Retai (1–4 %) | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Retai (1–4 %) | 1 ligoje |
| AICDAactivation induced cytidine deaminase | Neužfiksuota | 1 ligoje |
| BCL10BCL10 immune signaling adaptor | Neužfiksuota | 1 ligoje |
| CARD9caspase recruitment domain family member 9 | Neužfiksuota | 1 ligoje |
| CD247CD247 molecule | Neužfiksuota | 1 ligoje |
| CD3GCD3 gamma subunit of T-cell receptor complex | Neužfiksuota | 1 ligoje |
| CD40CD40 molecule | Neužfiksuota | 1 ligoje |
| CD40LGCD40 ligand | Neužfiksuota | 1 ligoje |
| CTPS1CTP synthase 1 | Neužfiksuota | 1 ligoje |
| CYBAcytochrome b-245 alpha chain | Neužfiksuota | 1 ligoje |
| CYBBcytochrome b-245 beta chain | Neužfiksuota | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Neužfiksuota | 1 ligoje |
| FCGR3AFc gamma receptor IIIa | Neužfiksuota | 1 ligoje |
| ICOSinducible T cell costimulator | Neužfiksuota | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Neužfiksuota | 1 ligoje |
| IFNGR2interferon gamma receptor 2 | Neužfiksuota | 1 ligoje |
| IKBKBinhibitor of nuclear factor kappa B kinase subunit beta | Neužfiksuota | 1 ligoje |
| IL12Binterleukin 12B | Neužfiksuota | 1 ligoje |
| IL21Rinterleukin 21 receptor | Neužfiksuota | 1 ligoje |
| IL2RAinterleukin 2 receptor subunit alpha | Neužfiksuota | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Neužfiksuota | 1 ligoje |
| IRF7interferon regulatory factor 7 | Neužfiksuota | 1 ligoje |
| IRF8interferon regulatory factor 8 | Neužfiksuota | 2 ligose |
| ISG15ISG15 ubiquitin like modifier | Neužfiksuota | 1 ligoje |
| IVNS1ABPinfluenza virus NS1A binding protein | Neužfiksuota | 1 ligoje |
| LATlinker for activation of T cells | Neužfiksuota | 1 ligoje |
| LRBALPS responsive beige-like anchor protein | Neužfiksuota | 1 ligoje |
| MAGT1magnesium transporter 1 | Neužfiksuota | 1 ligoje |
| MYCMYC proto-oncogene, bHLH transcription factor | Neužfiksuota | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Neužfiksuota | 1 ligoje |
| NCF2neutrophil cytosolic factor 2 | Neužfiksuota | 1 ligoje |
| NFE2L2NFE2 like bZIP transcription factor 2 | Neužfiksuota | 1 ligoje |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Neužfiksuota | 1 ligoje |
| OTULINOTU deubiquitinase with linear linkage specificity | Neužfiksuota | 1 ligoje |
| PGM3phosphoglucomutase 3 | Neužfiksuota | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Neužfiksuota | 1 ligoje |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Neužfiksuota | 1 ligoje |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Neužfiksuota | 1 ligoje |
| SH2D1ASH2 domain containing 1A | Neužfiksuota | 1 ligoje |
| SP110SP110 nuclear body protein | Neužfiksuota | 1 ligoje |
| TFRCtransferrin receptor | Neužfiksuota | 1 ligoje |
| TNFRSF4TNF receptor superfamily member 4 | Neužfiksuota | 1 ligoje |
| TYK2tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Neužfiksuota | 1 ligoje |
| UNGuracil DNA glycosylase | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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