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ONTOLOGY REPORT - ANNOTATIONS


Term:B cell deficiency
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Accession:DOID:2115 term browser browse the term
Definition:A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)
Synonyms:exact_synonym: B cell (antibody) deficiencies;   Immunoglobulin heavy chain deficiency;   immunoglobulin heavy chain deletion
 primary_id: RDO:9004123
For additional species annotation, visit the Alliance of Genome Resources.


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adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B-cell linker JBrowse link 1 260,187,023 260,254,490 RGD:1600518
RGD:11554173
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:1600526
RGD:8554872
RGD:11554173
G Cd19 CD19 molecule JBrowse link 1 197,815,422 197,822,123 RGD:11554173
G Cd79a CD79a molecule JBrowse link 1 81,763,609 81,768,039 RGD:11554173
G Cd79b CD79b molecule JBrowse link 10 94,497,445 94,500,591 RGD:11554173
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A JBrowse link 3 8,801,544 8,829,506 RGD:1599837
RGD:11554173
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:13592920
G Sec61a1 Sec61 translocon alpha 1 subunit JBrowse link 4 120,453,577 120,467,932 RGD:8554872
G Tcf3 transcription factor 3 JBrowse link 7 12,146,642 12,168,400 RGD:11554173
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd79a CD79a molecule JBrowse link 1 81,763,609 81,768,039 RGD:7240710
RGD:8554872
agammaglobulinemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B-cell linker JBrowse link 1 260,187,023 260,254,490 RGD:7240710
RGD:8554872
G Zfp518a zinc finger protein 518A JBrowse link 1 260,152,881 260,178,360 RGD:8554872
agammaglobulinemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A JBrowse link 3 8,801,544 8,829,506 RGD:7240710
RGD:8554872
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd79b CD79b molecule JBrowse link 10 94,497,445 94,500,591 RGD:7240710
RGD:8554872
Agammaglobulinemia 7, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:7240710
RGD:8554872
Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcf3 transcription factor 3 JBrowse link 7 12,146,642 12,168,400 RGD:8554872
RGD:7240710
Agammaglobulinemia, non-Bruton type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
G Cd79a CD79a molecule JBrowse link 1 81,763,609 81,768,039 RGD:8554872
Agammaglobulinemia, X-Linked, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 JBrowse link X 37,790,004 38,196,365 RGD:7240710
RGD:8554872
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcd protein kinase C, delta JBrowse link 16 6,655,131 6,675,746 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490298
RGD:8554872
RGD:11554173
RGD:11039457
RGD:8547781
RGD:8547779
RGD:7240710
common variable immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd19 CD19 molecule JBrowse link 1 197,815,422 197,822,123 RGD:11554173
RGD:8554872
G Cd81 Cd81 molecule JBrowse link 1 216,237,663 216,253,460 RGD:11554173
G Cr2 complement C3d receptor 2 JBrowse link 13 113,890,274 113,927,824 RGD:11554173
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:11251730
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5147988
G Icos inducible T-cell co-stimulator JBrowse link 9 67,748,157 67,786,808 RGD:8554872
RGD:11554173
G Ikzf1 IKAROS family zinc finger 1 JBrowse link 14 91,782,281 91,867,828 RGD:11554173
G Il21 interleukin 21 JBrowse link 2 123,965,021 123,972,356 RGD:11554173
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892941
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:13592920
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:4889436
G Ms4a1 membrane spanning 4-domains A1 JBrowse link 1 227,429,241 227,441,492 RGD:11554173
G Nfkb1 nuclear factor kappa B subunit 1 JBrowse link 2 240,773,520 240,890,053 RGD:11554173
G Nfkb2 nuclear factor kappa B subunit 2 JBrowse link 1 266,050,634 266,059,277 RGD:11554173
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6771226
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147864
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
RGD:11554173
G Tnfrsf13c TNF receptor superfamily member 13C JBrowse link 7 123,453,799 123,456,289 RGD:8554872
RGD:11554173
G Tnfsf12 TNF superfamily member 12 JBrowse link 10 56,290,780 56,300,137 RGD:8554872
Common Variable Immunodeficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Icos inducible T-cell co-stimulator JBrowse link 9 67,748,157 67,786,808 RGD:7240710
RGD:8554872
G Nfkb2 nuclear factor kappa B subunit 2 JBrowse link 1 266,050,634 266,059,277 RGD:8554872
Common Variable Immunodeficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkb2 nuclear factor kappa B subunit 2 JBrowse link 1 266,050,634 266,059,277 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il21 interleukin 21 JBrowse link 2 123,965,021 123,972,356 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkb1 nuclear factor kappa B subunit 1 JBrowse link 2 240,773,520 240,890,053 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikzf1 IKAROS family zinc finger 1 JBrowse link 14 91,782,281 91,867,828 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf2bp2 interferon regulatory factor 2 binding protein 2 JBrowse link 19 59,497,021 59,502,298 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd19 CD19 molecule JBrowse link 1 197,815,422 197,822,123 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Ccdc134 coiled-coil domain containing 134 JBrowse link 7 123,362,471 123,376,930 RGD:8554872
G Cenpm centromere protein M JBrowse link 7 123,464,615 123,476,336 RGD:8554872
G Csdc2 cold shock domain containing C2 JBrowse link 7 123,168,811 123,183,336 RGD:8554872
G Desi1 desumoylating isopeptidase 1 JBrowse link 7 123,238,332 123,259,636 RGD:8554872
G Mei1 meiotic double-stranded break formation protein 1 JBrowse link 7 123,308,041 123,361,391 RGD:8554872
G Mir33 microRNA 33 JBrowse link 7 123,431,612 123,431,680 RGD:8554872
G Naga alpha-N-acetylgalactosaminidase JBrowse link 7 123,563,047 123,572,074 RGD:8554872
G Phf5a PHD finger protein 5A JBrowse link 7 123,095,286 123,101,851 RGD:8554872
G Pmm1 phosphomannomutase 1 JBrowse link 7 123,183,504 123,193,874 RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
G Rangap1 RAN GTPase activating protein 1 JBrowse link 7 122,939,266 122,967,178 RGD:8554872
G Septin3 septin 3 JBrowse link 7 123,506,535 123,526,542 RGD:8554872
G Shisa8 shisa family member 8 JBrowse link 7 123,440,163 123,445,613 RGD:8554872
G Snu13 small nuclear ribonucleoprotein 13 JBrowse link 7 123,282,754 123,287,721 RGD:8554872
G Srebf2 sterol regulatory element binding transcription factor 2 JBrowse link 7 123,381,082 123,438,605 RGD:8554872
G Tef TEF transcription factor, PAR bZIP family member JBrowse link 7 123,033,971 123,058,606 RGD:8554872
G Tnfrsf13c TNF receptor superfamily member 13C JBrowse link 7 123,453,799 123,456,289 RGD:7240710
RGD:8554872
G Tob2 transducer of ERBB2, 2 JBrowse link 7 123,079,520 123,088,240 RGD:8554872
G Wbp2nl WBP2 N-terminal like JBrowse link 7 123,531,657 123,548,574 RGD:8554872
G Xrcc6 X-ray repair cross complementing 6 JBrowse link 7 123,259,881 123,280,613 RGD:8554872
G Zc3h7b zinc finger CCCH-type containing 7B JBrowse link 7 122,978,999 123,027,166 RGD:8554872
Common Variable Immunodeficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ms4a1 membrane spanning 4-domains A1 JBrowse link 1 227,429,241 227,441,492 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd81 Cd81 molecule JBrowse link 1 216,237,663 216,253,460 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cr2 complement C3d receptor 2 JBrowse link 13 113,890,274 113,927,824 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 8, with Autoimmunity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:7240710
RGD:8554872
dysgammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:1599480
G Igkc immunoglobulin kappa constant RGD:11554173
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:1599705
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6892956
RGD:7240710
hyper IgE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 JBrowse link 1 242,958,912 242,961,750 RGD:8554872
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:8554872
RGD:11554173
G Dop1a DOP1 leucine zipper like protein A JBrowse link 8 94,122,733 94,225,131 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Pgm3 phosphoglucomutase 3 JBrowse link 8 94,225,513 94,243,230 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
RGD:8554872
Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp341 zinc finger protein 341 JBrowse link 3 150,114,853 150,172,425 RGD:8554872
RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 4, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6st interleukin 6 signal transducer JBrowse link 2 44,279,199 44,319,427 RGD:8554872
RGD:7240710
hyperimmunoglobulin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:1598906
RGD:11554173
RGD:8554872
RGD:11039485
RGD:11039483
RGD:11039457
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:1599479
RGD:11554173
RGD:8554872
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:11554173
Hypogammaglobulinemia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8554872
RGD:7240710
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:7240710
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
RGD:7240710
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:7240710
RGD:8554872
immunoglobulin alpha deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:11554173
G Clec16a C-type lectin domain containing 16A JBrowse link 10 5,002,196 5,196,914 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:11344917
G Icos inducible T-cell co-stimulator JBrowse link 9 67,748,157 67,786,808 RGD:11344917
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Pvt1 Pvt1 oncogene JBrowse link 7 102,648,394 102,871,316 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041755
RGD:11041756
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:13592920
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
selective IgG deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:10755693
Tyrosine Kinase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyk2 tyrosine kinase 2 JBrowse link 8 22,118,224 22,149,807 RGD:7240710
RGD:8554872
X-linked agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
RGD:11040698
RGD:11040588
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:13592920
X-linked hyper IgM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        B cell deficiency 77
          agammaglobulinemia + 55
          congenital hypogammaglobulinemia 0
          hyperimmunoglobulin syndrome + 16
          immunoglobulin alpha deficiency + 8
          immunoglobulin beta deficiency 0
          lambda 5 deficiency 0
          selective immunoglobulin deficiency disease + 25
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Immune & Inflammatory Diseases 3092
        immune system disease 2518
          primary immunodeficiency disease 957
            B cell deficiency 77
              agammaglobulinemia + 55
              congenital hypogammaglobulinemia 0
              hyperimmunoglobulin syndrome + 16
              immunoglobulin alpha deficiency + 8
              immunoglobulin beta deficiency 0
              lambda 5 deficiency 0
              selective immunoglobulin deficiency disease + 25
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.