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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 2 163,726,571 163,750,239 RGD:7240710
RGD:8554872
RGD:13592920
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:8554872
agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B cell linker JBrowse link 19 40,928,927 40,994,221 RGD:1600518
RGD:11554173
G Btk Bruton agammaglobulinemia tyrosine kinase JBrowse link X 134,542,334 134,583,628 RGD:1600526
RGD:8554872
RGD:11554173
G Cd19 CD19 antigen JBrowse link 7 126,408,448 126,415,148 RGD:11554173
G Cd79a CD79A antigen (immunoglobulin-associated alpha) JBrowse link 7 24,897,497 24,901,858 RGD:11554173
G Cd79b CD79B antigen JBrowse link 11 106,311,341 106,314,562 RGD:11554173
G Ighm immunoglobulin heavy constant mu JBrowse link 12 113,418,826 113,422,730 RGD:11554173
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A JBrowse link 2 30,237,769 30,263,790 RGD:1599837
RGD:11554173
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 13 101,680,761 101,768,217 RGD:13592920
G Sec61a1 Sec61 alpha 1 subunit (S. cerevisiae) JBrowse link 6 88,503,607 88,518,800 RGD:8554872
G Tcf3 transcription factor 3 JBrowse link 10 80,409,165 80,433,976 RGD:11554173
Agammaglobulinemia 1, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighm immunoglobulin heavy constant mu JBrowse link 12 113,418,826 113,422,730 RGD:7240710
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd79a CD79A antigen (immunoglobulin-associated alpha) JBrowse link 7 24,897,497 24,901,858 RGD:7240710
RGD:8554872
agammaglobulinemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B cell linker JBrowse link 19 40,928,927 40,994,221 RGD:7240710
RGD:8554872
G Zfp518a zinc finger protein 518A JBrowse link 19 40,894,031 40,917,947 RGD:8554872
agammaglobulinemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A JBrowse link 2 30,237,769 30,263,790 RGD:7240710
RGD:8554872
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd79b CD79B antigen JBrowse link 11 106,311,341 106,314,562 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 13 101,680,761 101,768,217 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 10 80,409,165 80,433,976 RGD:8554872
RGD:7240710
Agammaglobulinemia, non-Bruton type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton agammaglobulinemia tyrosine kinase JBrowse link X 134,542,334 134,583,628 RGD:8554872
G Cd79a CD79A antigen (immunoglobulin-associated alpha) JBrowse link 7 24,897,497 24,901,858 RGD:8554872
G Ighm immunoglobulin heavy constant mu JBrowse link 12 113,418,826 113,422,730 RGD:8554872
Agammaglobulinemia, X-Linked, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3kbp1 SH3-domain kinase binding protein 1 JBrowse link X 159,626,892 159,975,920 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 14 30,595,353 30,626,414 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator JBrowse link 1 105,780,673 105,849,444 RGD:7240710
RGD:8554872
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 57,212,143 57,224,042 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 antigen JBrowse link 7 126,408,448 126,415,148 RGD:11554173
RGD:8554872
G Cd81 CD81 antigen JBrowse link 7 143,052,750 143,067,930 RGD:11554173
G Cr2 complement receptor 2 JBrowse link 1 195,136,811 195,176,880 RGD:11554173
G Dclre1c DNA cross-link repair 1C JBrowse link 2 3,424,061 3,474,211 RGD:11251730
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 JBrowse link 17 34,263,227 34,269,418 RGD:5147864
G Icos inducible T cell co-stimulator JBrowse link 1 60,960,773 61,000,322 RGD:8554872
RGD:11554173
RGD:13592920
G Ikzf1 IKAROS family zinc finger 1 JBrowse link 11 11,684,962 11,772,930 RGD:11554173
G Il21 interleukin 21 JBrowse link 3 37,222,759 37,232,636 RGD:11554173
G Il21r interleukin 21 receptor JBrowse link 7 125,603,252 125,634,397 RGD:6892941
G Lrba LPS-responsive beige-like anchor JBrowse link 3 86,223,456 86,782,694 RGD:13592920
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,687 RGD:4889436
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 JBrowse link 19 11,249,679 11,266,149 RGD:11554173
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 JBrowse link 3 135,584,655 135,691,969 RGD:11554173
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 JBrowse link 19 46,300,994 46,312,400 RGD:13592920
RGD:11554173
G Pecam1 platelet/endothelial cell adhesion molecule 1 JBrowse link 11 106,654,213 106,715,281 RGD:6771226
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b JBrowse link 11 61,126,283 61,153,170 RGD:8554872
RGD:11554173
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c JBrowse link 15 82,221,742 82,224,380 RGD:8554872
RGD:11554173
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 JBrowse link 11 69,686,240 69,696,098 RGD:8554872
G Tnfsfm13 tumor necrosis factor (ligand) superfamily, membrane-bound member 13 JBrowse link 11 69,682,577 69,696,098 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 1 60,960,773 61,000,322 RGD:7240710
RGD:8554872
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 JBrowse link 19 46,300,994 46,312,400 RGD:8554872
Common Variable Immunodeficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 JBrowse link 19 46,300,994 46,312,400 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il21 interleukin 21 JBrowse link 3 37,222,759 37,232,636 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 JBrowse link 3 135,584,655 135,691,969 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 11 11,684,962 11,772,930 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 8 126,588,296 126,593,986 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b JBrowse link 11 61,126,283 61,153,170 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd19 CD19 antigen JBrowse link 7 126,408,448 126,415,148 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 1500009C09Rik RIKEN cDNA 1500009C09 gene JBrowse link 15 82,252,397 82,260,753 RGD:8554872
G Aco2 aconitase 2, mitochondrial JBrowse link 15 81,872,463 81,915,137 RGD:8554872
G Ccdc134 coiled-coil domain containing 134 JBrowse link 15 82,127,898 82,142,203 RGD:8554872
G Cenpm centromere protein M JBrowse link 15 82,233,762 82,244,773 RGD:8554872
G Csdc2 cold shock domain containing C2, RNA binding JBrowse link 15 81,936,759 81,950,941 RGD:8554872
G Desi1 desumoylating isopeptidase 1 JBrowse link 15 81,992,523 82,016,258 RGD:8554872
G Mei1 meiotic double-stranded break formation protein 1 JBrowse link 15 82,070,074 82,126,817 RGD:8554872
G Mir33 microRNA 33 JBrowse link 15 82,198,122 82,198,190 RGD:8554872
G Naga N-acetyl galactosaminidase, alpha JBrowse link 15 82,329,532 82,338,884 RGD:8554872
G Phf5a PHD finger protein 5A JBrowse link 15 81,864,516 81,871,892 RGD:8554872
G Pmm1 phosphomannomutase 1 JBrowse link 15 81,951,106 81,960,930 RGD:8554872
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H JBrowse link 15 81,915,030 81,926,247 RGD:8554872
G Rangap1 RAN GTPase activating protein 1 JBrowse link 15 81,704,248 81,730,798 RGD:8554872
G Sept3 septin 3 JBrowse link 15 82,268,802 82,294,574 RGD:8554872
G Shisa8 shisa family member 8 JBrowse link 15 82,206,173 82,212,848 RGD:8554872
G Snu13 SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) JBrowse link 15 82,041,345 82,047,598 RGD:8554872
G Srebf2 sterol regulatory element binding factor 2 JBrowse link 15 82,147,269 82,205,379 RGD:8554872
G Tef thyrotroph embryonic factor JBrowse link 15 81,802,673 81,826,863 RGD:8554872
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c JBrowse link 15 82,221,742 82,224,380 RGD:7240710
RGD:8554872
G Tob2 transducer of ERBB2, 2 JBrowse link 15 81,848,270 81,858,326 RGD:8554872
G Wbp2nl WBP2 N-terminal like JBrowse link 15 82,298,925 82,314,647 RGD:8554872
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 JBrowse link 15 81,987,833 82,040,085 RGD:8554872
G Zc3h7b zinc finger CCCH type containing 7B JBrowse link 15 81,744,848 81,796,269 RGD:8554872
Common Variable Immunodeficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 JBrowse link 19 11,249,679 11,266,149 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd81 CD81 antigen JBrowse link 7 143,052,750 143,067,930 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cr2 complement receptor 2 JBrowse link 1 195,136,811 195,176,880 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 JBrowse link 3 86,223,456 86,782,694 RGD:7240710
RGD:8554872
dysgammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igkc immunoglobulin kappa constant JBrowse link 6 70,726,435 70,726,754 RGD:11554173
G Ung uracil DNA glycosylase JBrowse link 5 114,130,366 114,139,321 RGD:1599705
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4ra interleukin 4 receptor, alpha JBrowse link 7 125,552,271 125,579,474 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 11 100,886,806 100,939,594 RGD:6892956
RGD:13592920
RGD:7240710
hyper IgE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 19 24,999,321 25,202,432 RGD:8554872
RGD:11554173
G Dop1a DOP1 leucine zipper like protein A JBrowse link 9 86,467,141 86,555,806 RGD:8554872
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:11554173
G Pgm3 phosphoglucomutase 3 JBrowse link 9 86,552,476 86,571,878 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 11 100,886,806 100,939,594 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 19 24,999,321 25,202,432 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 2 154,611,816 154,646,821 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 13 112,464,070 112,506,860 RGD:8554872
RGD:7240710
hyperimmunoglobulin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 6 122,553,809 122,564,180 RGD:1598906
RGD:11554173
RGD:8554872
RGD:11039485
RGD:11039483
RGD:11039457
G Cd40 CD40 antigen JBrowse link 2 165,055,614 165,071,654 RGD:1599479
RGD:11554173
RGD:8554872
G Ung uracil DNA glycosylase JBrowse link 5 114,130,366 114,139,321 RGD:8554872
RGD:11554173
Hypogammaglobulinemia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton agammaglobulinemia tyrosine kinase JBrowse link X 134,542,334 134,583,628 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pdx glucose-6-phosphate dehydrogenase X-linked JBrowse link X 74,409,483 74,428,880 RGD:8554872
G Ikbkg inhibitor of kappaB kinase gamma JBrowse link X 74,393,233 74,456,792 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 antigen JBrowse link 2 165,055,614 165,071,654 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 5 114,130,366 114,139,321 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 6 122,553,809 122,564,180 RGD:8554872
RGD:7240710
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b JBrowse link 11 61,126,283 61,153,170 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 10 20,952,232 21,080,429 RGD:11554173
G Clec16a C-type lectin domain family 16, member A JBrowse link 16 10,545,309 10,744,878 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 1 60,909,025 60,915,832 RGD:11344917
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 JBrowse link 17 34,263,227 34,269,418 RGD:11041755
RGD:11041756
G Icos inducible T cell co-stimulator JBrowse link 1 60,960,773 61,000,322 RGD:11344917
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 2 62,595,618 62,646,255 RGD:11554173
G Pvt1 Pvt1 oncogene JBrowse link 15 62,037,986 62,260,215 RGD:11554173
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b JBrowse link 11 61,126,283 61,153,170 RGD:13592920
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton agammaglobulinemia tyrosine kinase JBrowse link X 134,542,334 134,583,628 RGD:7240710
RGD:8554872
selective IgG deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:10755693
Tyrosine Kinase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyk2 tyrosine kinase 2 JBrowse link 9 21,104,068 21,131,393 RGD:7240710
RGD:8554872
X-linked agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton agammaglobulinemia tyrosine kinase JBrowse link X 134,542,334 134,583,628 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11040698
RGD:11040588
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 13 101,680,761 101,768,217 RGD:13592920
X-linked hyper IgM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 57,212,143 57,224,042 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12526
    syndrome 4811
      primary immunodeficiency disease 898
        B cell deficiency 78
          agammaglobulinemia + 57
          congenital hypogammaglobulinemia 0
          hyperimmunoglobulin syndrome + 15
          immunoglobulin alpha deficiency + 8
          immunoglobulin beta deficiency 0
          lambda 5 deficiency 0
          selective immunoglobulin deficiency disease + 24
Path 2
Term Annotations click to browse term
  disease 12526
    disease of anatomical entity 12146
      Immune & Inflammatory Diseases 2705
        immune system disease 2200
          primary immunodeficiency disease 898
            B cell deficiency 78
              agammaglobulinemia + 57
              congenital hypogammaglobulinemia 0
              hyperimmunoglobulin syndrome + 15
              immunoglobulin alpha deficiency + 8
              immunoglobulin beta deficiency 0
              lambda 5 deficiency 0
              selective immunoglobulin deficiency disease + 24
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.