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ONTOLOGY REPORT - ANNOTATIONS


Term:combined T cell and B cell immunodeficiency
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Accession:DOID:628 term browser browse the term
Definition:Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.
Synonyms:exact_synonym: CIDX;   COMBINED T AND B CELL IMMUNODEFICIENCY;   Congenital Combined Immunodeficiency;   IMD6;   Immunodeficiency 6;   X Linked Immunodeficiency Disease;   X Linked Immunodeficiency Syndrome;   X-Linked Combined Immunodeficiencies;   X-Linked Combined Immunodeficiency Diseases;   X-Linked Immunodeficiency Diseases;   X-Linked Immunodeficiency Syndromes;   X-linked combined immunodeficiency;   XCID;   combined immunodeficiency
 narrow_synonym: Combined immunodeficiency, X-linked, moderate
 primary_id: MESH:D053632
 alt_id: OMIA:000899;   OMIM:312863;   RDO:0002416
 xref: ICD10CM:D81;   ICD10CM:D81.9;   ICD9CM:279.2;   NCI:C27871;   ORDO:101972
For additional species annotation, visit the Alliance of Genome Resources.


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combined T cell and B cell immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 1 133,549,380 133,595,115 RGD:9068941
G BCL11B BAF chromatin remodeling complex subunit BCL11B JBrowse link 14 99,122,231 99,205,962 RGD:9068941
G CARMIL2 capping protein regulator and myosin 1 linker 2 JBrowse link 16 67,378,283 67,390,760 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 70,433,355 70,437,590 RGD:7240710
RGD:9068941
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G TFRC transferrin receptor JBrowse link 3 203,333,953 203,365,586 RGD:9068941
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 20 42,044,613 42,076,868 RGD:7240710
RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:7240710
RGD:9068941
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDOA aldolase, fructose-bisphosphate A JBrowse link 16 30,428,190 30,444,910 RGD:9068941
G CORO1A coronin 1A JBrowse link 16 30,549,880 30,555,093 RGD:7240710
RGD:9068941
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 16 30,479,684 30,488,868 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 16 30,489,362 30,498,026 RGD:9068941
G PPP4C protein phosphatase 4 catalytic subunit JBrowse link 16 30,450,550 30,459,889 RGD:9068941
G RHOH ras homolog family member H JBrowse link 4 40,374,816 40,420,753 RGD:9068941
G TBX6 T-box transcription factor 6 JBrowse link 16 30,460,305 30,467,090 RGD:9068941
G YPEL3 yippee like 3 JBrowse link 16 30,467,490 30,471,256 RGD:9068941
DNA ligase IV deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIG4 DNA ligase 4 JBrowse link 13 108,474,718 108,485,421 RGD:7240710
RGD:9068941
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 153,843,092 153,860,675 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:7240710
RGD:9068941
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ORAI1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 122,601,227 122,614,990 RGD:7240710
RGD:9068941
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 11 3,839,958 4,066,644 RGD:7240710
RGD:9068941
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:7240710
RGD:9068941
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD40 CD40 molecule JBrowse link 20 43,541,619 43,552,994 RGD:9068941
RGD:7240710
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXTL3 exostosin like glycosyltransferase 3 JBrowse link 8 25,079,531 25,233,599 RGD:9068941
RGD:7240710
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
leukocyte adhesion deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGB2 integrin subunit beta 2 JBrowse link 21 44,470,999 44,505,963 RGD:9068941
leukocyte adhesion deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FERMT3 fermitin family member 3 JBrowse link 11 62,909,030 62,928,191 RGD:9068941
G ITGB2 integrin subunit beta 2 JBrowse link 21 44,470,999 44,505,963 RGD:7240710
RGD:9068941
leukocyte adhesion deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FERMT3 fermitin family member 3 JBrowse link 11 62,909,030 62,928,191 RGD:7240710
RGD:9068941
G RASGRP2 RAS guanyl releasing protein 2 JBrowse link 11 63,423,112 63,443,240 RGD:9068941
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAP1 transporter 1, ATP binding cassette subfamily B member JBrowse link 6 33,530,170 33,538,978 RGD:7240710
RGD:9068941
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 6 33,513,321 33,523,780 RGD:7240710
RGD:9068941
G TAPBP TAP binding protein JBrowse link 6 33,986,058 34,000,190 RGD:7240710
RGD:9068941
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CIITA class II major histocompatibility complex transactivator JBrowse link 16 11,041,434 11,090,485 RGD:9068941
RGD:7240710
G NR2C2AP nuclear receptor 2C2 associated protein JBrowse link 19 19,640,163 19,642,179 RGD:9068941
G RFX5 regulatory factor X5 JBrowse link 1 130,345,977 130,352,728 RGD:7240710
RGD:9068941
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 19 19,631,847 19,640,622 RGD:7240710
RGD:9068941
G RFXAP regulatory factor X associated protein JBrowse link 13 36,461,048 36,470,935 RGD:7240710
RGD:9068941
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:7240710
RGD:9068941
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNP purine nucleoside phosphorylase JBrowse link 14 19,396,114 19,403,907 RGD:7240710
RGD:9068941
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:9068941
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK2 adenylate kinase 2 JBrowse link 1 33,480,074 33,508,697 RGD:7240710
RGD:9068941
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 20 42,044,613 42,076,868 RGD:9068941
G AK2 adenylate kinase 2 JBrowse link 1 33,480,074 33,508,697 RGD:9068941
G CD247 CD247 molecule JBrowse link 1 146,648,733 146,736,071 RGD:9068941
G CD3D CD3d molecule JBrowse link 11 117,105,868 117,111,051 RGD:9068941
G CD3E CD3e molecule JBrowse link 11 117,074,041 117,085,625 RGD:9068941
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:9068941
G EPO erythropoietin JBrowse link 7 106,148,062 106,150,974 RGD:9068941
G IFTAP intraflagellar transport associated protein JBrowse link 11 36,433,550 36,496,487 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 70,433,355 70,437,590 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 5 79,769,859 79,792,566 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G MYOC myocilin JBrowse link 1 150,841,630 150,858,628 RGD:9068941
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 8 41,593,022 41,778,299 RGD:9068941
G PTPRC protein tyrosine phosphatase receptor type C JBrowse link 1 178,555,803 178,674,089 RGD:9068941
G RAC2 Rac family small GTPase 2 JBrowse link 22 35,973,229 35,992,026 RGD:9068941
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:9068941
G RFX5 regulatory factor X5 JBrowse link 1 130,345,977 130,352,728 RGD:9068941
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 19 19,631,847 19,640,622 RGD:9068941
G TAPBP TAP binding protein JBrowse link 6 33,986,058 34,000,190 RGD:9068941
G TFRC transferrin receptor JBrowse link 3 203,333,953 203,365,586 RGD:9068941
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHEJ1 non-homologous end joining factor 1 JBrowse link 2B 224,926,183 225,012,551 RGD:7240710
RGD:9068941
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:7240710
RGD:9068941
G LIG4 DNA ligase 4 JBrowse link 13 108,474,718 108,485,421 RGD:9068941
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:9068941
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 8 41,593,022 41,778,299 RGD:9068941
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:7240710
RGD:9068941
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD3D CD3d molecule JBrowse link 11 117,105,868 117,111,051 RGD:9068941
G CORO1A coronin 1A JBrowse link 16 30,549,880 30,555,093 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 5 79,769,859 79,792,566 RGD:7240710
RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G PTPRC protein tyrosine phosphatase receptor type C JBrowse link 1 178,555,803 178,674,089 RGD:7240710
RGD:9068941
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXN1 forkhead box N1 JBrowse link 17 28,740,775 28,773,592 RGD:7240710
RGD:9068941
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STK4 serine/threonine kinase 4 JBrowse link 20 42,389,611 42,503,014 RGD:7240710
RGD:9068941
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAGT1 magnesium transporter 1 JBrowse link X 77,122,801 77,190,690 RGD:7240710
RGD:9068941
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 70,433,355 70,437,590 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11950
    syndrome 4859
      primary immunodeficiency disease 892
        combined T cell and B cell immunodeficiency 56
          CD40 ligand deficiency + 3
          DNA ligase IV deficiency 1
          Woods Black Norbury Syndrome 0
          X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 1
          immunodeficiency with hyper IgM type 3 1
          leukocyte adhesion deficiency + 3
          purine nucleoside phosphorylase deficiency 1
          severe combined immunodeficiency + 44
Path 2
Term Annotations click to browse term
  disease 11950
    Developmental Diseases 8325
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7160
        genetic disease 6682
          monogenic disease 4581
            X-linked monogenic disease 839
              combined T cell and B cell immunodeficiency 56
                CD40 ligand deficiency + 3
                DNA ligase IV deficiency 1
                Woods Black Norbury Syndrome 0
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 1
                immunodeficiency with hyper IgM type 3 1
                leukocyte adhesion deficiency + 3
                purine nucleoside phosphorylase deficiency 1
                severe combined immunodeficiency + 44
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.