Tunnus
Recurrent infections
Increased susceptibility to infections as manifested by repeated bouts of infection.
Kokkuvõte
- Teised nimetused
- Frequent infections, Frequent, severe infections, Increased frequency of infection, infections, recurrent, Predisposition to infections, Susceptibility to infection
- Kehasüsteem
- Abnormality of the immune system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Recurrent infections, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test282 geeni on seotud tunnusega Recurrent infections
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Recurrent infections. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alati | Esineb 1 haiguses |
| BCL10BCL10 immune signaling adaptor | Alati | Esineb 1 haiguses |
| CARD11caspase recruitment domain family member 11 | Alati | Esineb 1 haiguses |
| CCT3chaperonin containing TCP1 subunit 3 | Alati | Esineb 1 haiguses |
| CDCA7cell division cycle associated 7 | Alati | Esineb 1 haiguses |
| COG6component of oligomeric golgi complex 6 | Alati | Esineb 1 haiguses |
| COPZ1coat protein complex I subunit zeta 1 | Alati | Esineb 1 haiguses |
| CSF3Rcolony stimulating factor 3 receptor | Alati | Esineb 1 haiguses |
| DAND5DAN domain BMP antagonist family member 5 | Alati | Esineb 1 haiguses |
| DEAF1DEAF1 transcription factor | Alati | Esineb 2 haiguses |
| DPP9dipeptidyl peptidase 9 | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 2 haiguses |
| GINS1GINS complex subunit 1 | Alati | Esineb 1 haiguses |
| GON4Lgon-4 like | Alati | Esineb 1 haiguses |
| GOT2glutamic-oxaloacetic transaminase 2 | Alati | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Alati | Esineb 2 haiguses |
| IGKCimmunoglobulin kappa constant | Alati | Esineb 2 haiguses |
| IKBKBinhibitor of nuclear factor kappa B kinase subunit beta | Alati | Esineb 1 haiguses |
| IL21Rinterleukin 21 receptor | Alati | Esineb 1 haiguses |
| ITGB2integrin subunit beta 2 | Alati | Esineb 1 haiguses |
| ITKIL2 inducible T cell kinase | Alati | Esineb 1 haiguses |
| LATlinker for activation of T cells | Alati | Esineb 1 haiguses |
| LCP2lymphocyte cytosolic protein 2 | Alati | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Alati | Esineb 1 haiguses |
| LIG1DNA ligase 1 | Alati | Esineb 1 haiguses |
| LRBALPS responsive beige-like anchor protein | Alati | Esineb 1 haiguses |
| MVKmevalonate kinase | Alati | Esineb 2 haiguses |
| MYH11myosin heavy chain 11 | Alati | Esineb 1 haiguses |
| NCF2neutrophil cytosolic factor 2 | Alati | Esineb 1 haiguses |
| NCKAP1LNCK associated protein 1 like | Alati | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Alati | Esineb 1 haiguses |
| PEPDpeptidase D | Alati | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alati | Esineb 2 haiguses |
| PRIM1DNA primase subunit 1 | Alati | Esineb 1 haiguses |
| PRKCDprotein kinase C delta | Alati | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 3 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
| RASGRP1RAS guanyl releasing protein 1 | Alati | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
Näita veel 242 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RNF113Aring finger protein 113A | Alati | Esineb 2 haiguses |
| RPL10ribosomal protein L10 | Alati | Esineb 3 haiguses |
| SLC46A1solute carrier family 46 member 1 | Alati | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Alati | Esineb 1 haiguses |
| STING1stimulator of interferon response cGAMP interactor 1 | Alati | Esineb 1 haiguses |
| TCF3transcription factor 3 | Alati | Esineb 3 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Alati | Esineb 2 haiguses |
| VPS45vacuolar protein sorting 45 homolog | Alati | Esineb 1 haiguses |
| WDR1WD repeat domain 1 | Alati | Esineb 1 haiguses |
| WIPF1WAS/WASL interacting protein family member 1 | Alati | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| BLNKB cell linker | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD247CD247 molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD3DCD3 delta subunit of T-cell receptor complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD79ACD79a molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD79BCD79b molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLEC7AC-type lectin domain containing 7A | Väga sageli (80–99%) | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXN1forkhead box N1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IGHMimmunoglobulin heavy constant mu | Väga sageli (80–99%) | Esineb 1 haiguses |
| IGLL1immunoglobulin lambda like polypeptide 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL17Finterleukin 17F | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL17RAinterleukin 17 receptor A | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL17RCinterleukin 17 receptor C | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL7Rinterleukin 7 receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PGM3phosphoglucomutase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPI1Spi-1 proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPINK5serine peptidase inhibitor Kazal type 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STAT3signal transducer and activator of transcription 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAF3IP2TRAF3 interacting protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UROC1urocanate hydratase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Sageli (30–79%) | Esineb 1 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 2 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BCL11BBCL11 transcription factor B | Sageli (30–79%) | Esineb 1 haiguses |
| BLMBLM RecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| C1GALT1C1C1GALT1 specific chaperone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| C1Rcomplement C1r | Sageli (30–79%) | Esineb 2 haiguses |
| C1Scomplement C1s | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Sageli (30–79%) | Esineb 1 haiguses |
| CBLIFcobalamin binding intrinsic factor | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Sageli (30–79%) | Esineb 1 haiguses |
| CD70CD70 molecule | Sageli (30–79%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Sageli (30–79%) | Esineb 2 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CPSF3cleavage and polyadenylation specific factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Sageli (30–79%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Sageli (30–79%) | Esineb 2 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 1 haiguses |
| DIAPH1diaphanous related formin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DOHHdeoxyhypusine hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DRG1developmentally regulated GTP binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sageli (30–79%) | Esineb 2 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EOMESeomesodermin | Sageli (30–79%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Sageli (30–79%) | Esineb 1 haiguses |
| GINS3GINS complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| GUK1guanylate kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HELLShelicase, lymphoid specific | Sageli (30–79%) | Esineb 1 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Sageli (30–79%) | Esineb 1 haiguses |
| INSRinsulin receptor | Sageli (30–79%) | Esineb 2 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Sageli (30–79%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 2 haiguses |
| KMT2Clysine methyltransferase 2C | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 2 haiguses |
| LMBRD1LMBR1 domain containing 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MC2Rmelanocortin 2 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| MECP2methyl-CpG binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MGME1mitochondrial genome maintenance exonuclease 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MRAPmelanocortin 2 receptor accessory protein | Sageli (30–79%) | Esineb 1 haiguses |
| NNTnicotinamide nucleotide transhydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sageli (30–79%) | Esineb 1 haiguses |
| PNPpurine nucleoside phosphorylase | Sageli (30–79%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Sageli (30–79%) | Esineb 1 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| SEC61A1SEC61 translocon subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sageli (30–79%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 2 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| STARsteroidogenic acute regulatory protein | Sageli (30–79%) | Esineb 1 haiguses |
| STAT1signal transducer and activator of transcription 1 | Sageli (30–79%) | Esineb 2 haiguses |
| STAT4signal transducer and activator of transcription 4 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Sageli (30–79%) | Esineb 1 haiguses |
| SYKspleen associated tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TFtransferrin | Sageli (30–79%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Sageli (30–79%) | Esineb 1 haiguses |
| TXNRD2thioredoxin reductase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TYMSthymidylate synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Sageli (30–79%) | Esineb 1 haiguses |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABCA12ATP binding cassette subfamily A member 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASPRV1aspartic peptidase retroviral like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX6DEAD-box helicase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Mõnikord (5–29%) | Esineb 2 haiguses |
| EFL1elongation factor like GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP3forkhead box P3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GIMAP5GTPase, IMAP family member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLIS3GLIS family zinc finger 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT14keratin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT5keratin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIPNlipase family member N | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NBEAneurobeachin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPAL4NIPA like domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRF1perforin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SBDSSBDS ribosome maturation factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKIC2SKI2 subunit of superkiller complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLF2SMC5/6 complex localization factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SULT2B1sulfotransferase family 2B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TERCtelomerase RNA component | Mõnikord (5–29%) | Esineb 1 haiguses |
| TERTtelomerase reverse transcriptase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGM1transglutaminase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| XIAPX-linked inhibitor of apoptosis | Mõnikord (5–29%) | Esineb 2 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Harva (1–4%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Harva (1–4%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Harva (1–4%) | Esineb 2 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Pole registreeritud | Esineb 1 haiguses |
| BTKBruton tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| C1QAcomplement C1q A chain | Pole registreeritud | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| CCR2C-C motif chemokine receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| CD27CD27 molecule | Pole registreeritud | Esineb 1 haiguses |
| CD55CD55 molecule (Cromer blood group) | Pole registreeritud | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Pole registreeritud | Esineb 1 haiguses |
| CR2complement C3d receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| CYBC1cytochrome b-245 chaperone 1 | Pole registreeritud | Esineb 1 haiguses |
| DGCR2DiGeorge syndrome critical region gene 2 | Pole registreeritud | Esineb 1 haiguses |
| DGCR6DiGeorge syndrome critical region gene 6 | Pole registreeritud | Esineb 1 haiguses |
| DGCR8DGCR8 microprocessor complex subunit | Pole registreeritud | Esineb 1 haiguses |
| ESS2ess-2 spliceosome associated protein | Pole registreeritud | Esineb 1 haiguses |
| FADDFas associated via death domain | Pole registreeritud | Esineb 1 haiguses |
| IL12RB1interleukin 12 receptor subunit beta 1 | Pole registreeritud | Esineb 1 haiguses |
| IRF8interferon regulatory factor 8 | Pole registreeritud | Esineb 2 haiguses |
| LMNB2lamin B2 | Pole registreeritud | Esineb 1 haiguses |
| MANBAmannosidase beta | Pole registreeritud | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Pole registreeritud | Esineb 1 haiguses |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| NCF4neutrophil cytosolic factor 4 | Pole registreeritud | Esineb 1 haiguses |
| NFKB1nuclear factor kappa B subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| NPHS1NPHS1 adhesion molecule, nephrin | Pole registreeritud | Esineb 1 haiguses |
| PSMB4proteasome 20S subunit beta 4 | Pole registreeritud | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Pole registreeritud | Esineb 1 haiguses |
| SERAC1serine active site containing 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Pole registreeritud | Esineb 1 haiguses |
| SRP54signal recognition particle 54 | Pole registreeritud | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Pole registreeritud | Esineb 2 haiguses |
| TLR8toll like receptor 8 | Pole registreeritud | Esineb 1 haiguses |
| ZBTB24zinc finger and BTB domain containing 24 | Pole registreeritud | Esineb 1 haiguses |
| ZNF341zinc finger protein 341 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
- Recurrent respiratory infections417 geeni
- Recurrent middle ear infection242 geeni
- Frequent urinary tract infections169 geeni
- Recurrent bacterial infections103 geeni
- Recurrent viral infections54 geeni
- Recurrent fungal infections33 geeni
- Recurrent ear infections23 geeni
- Recurrent infection of the gastrointestinal tract21 geeni
- Recurrent inflammation of tonsils17 geeni
- Recurrent abscess formation11 geeni
- Recurrent opportunistic infections10 geeni
- Recurrent protozoan infections4 geeni
- Recurrent gingivitis2 geeni
- Recurrent infections in infancy and early childhood1 geen
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast