KEGG   DISEASE: Disorders of adaptive immunity
Entry
H02526                      Disease                                
Name
Disorders of adaptive immunity
  Subgroup
Agammaglobulinemias [DS:H00085]
Hyper IgM syndromes, autosomal recessive type [DS:H00086]
Common variable immunodeficiency [DS:H00088]
T-B+Severe combined immunodeficiency (SCIDs) [DS:H00091]
T-B-Severe combined immunodeficiency (SCIDs) [DS:H00092]
T+B+Severe combined immunodeficiencies (SCIDs) [DS:H01244]
Combined immunodeficiency [DS:H00093]
Activated PI3K-delta syndrome [DS:H01387]
Other humoral immunodeficiencies [DS:H00087]
Autoimmune lymphoproliferative syndromes [DS:H00108]
Familial hemophagocytic lymphohistiocytosis [DS:H00109]
Immunodeficiency associated with DNA repair defects [DS:H00094]
  Supergrp
Primary immunodeficiency disease [DS:H01725]
Description
T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses. Since B-cell-mediated antibody production requires intact T-cell function, most T-cell defects lead to "Combined immunodeficiency disorders".
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H02526  Disorders of adaptive immunity
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02526  Disorders of adaptive immunity
Related
pathway
hsa04660 T cell receptor signaling pathway   
hsa04611 Platelet activation   
hsa04650 Natural killer cell mediated cytotoxicity   
hsa04659 Th17 cell differentiation   
hsa04658 Th1 and Th2 cell differentiation   
hsa04014 Ras signaling pathway   
hsa04064 NF-kappa B signaling pathway   
hsa04810 Regulation of actin cytoskeleton   
Gene
(IMD13) UNC119 [HSA:9094] [KO:K23539]
(IMD46) TFRC [HSA:7037] [KO:K06503]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD52) LAT [HSA:27040] [KO:K07362]
(IMD53) RELB [HSA:5971] [KO:K09253]
(IMD56) IL21R [HSA:50615] [KO:K05075]
(IMD60) BACH2 [HSA:60468] [KO:K09042]
(IMD62) ARHGEF1 [HSA:9138] [KO:K12330]
(IMD64) RASGRP1 [HSA:10125] [KO:K04350]
(IMD66) MRTFA [HSA:57591] [KO:K22525]
(IMD70) IVNS1ABP [HSA:10625] [KO:K15046]
(IMD72) NCKAP1L [HSA:3071] [KO:K05750]
(IMD76) FCHO1 [HSA:23149] [KO:K20042]
(IMD78) TPP2 [HSA:7174] [KO:K01280]
(IMD79) CD4 [HSA:920] [KO:K06454]
(IMD81) LCP2 [HSA:3937] [KO:K07361]
(IMD82) SYK [HSA:6850] [KO:K05855]
(IMD84) IKZF3 [HSA:22806] [KO:K09220]
(IMD86) SPPL2A [HSA:84888] [KO:K09596]
(IMD87) DEF6 [HSA:50619] [KO:K20072]
Other DBs
ICD-11: 4A01
ICD-10: D80 D81
MeSH: D000081207
OMIM: 615518 616740 300988 617514 617585 615207 618394 618459 618534 618847 618969 618982 619164 619220 619238 619374 619381 619437 619549 619573
Reference
  Authors
McCusker C, Warrington R
  Title
Primary immunodeficiency.
  Journal
Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
DOI:10.1186/1710-1492-7-S1-S11
Reference
PMID:22184408 (IMD13)
  Authors
Gorska MM, Alam R
  Title
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.
  Journal
Blood 119:1399-406 (2012)
DOI:10.1182/blood-2011-04-350686
Reference
PMID:26642240 (IMD46)
  Authors
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS
  Title
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
  Journal
Nat Genet 48:74-8 (2016)
DOI:10.1038/ng.3465
Reference
PMID:27405666 (IMD50)
  Authors
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, Andre-Schmutz I
  Title
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
  Journal
J Allergy Clin Immunol 138:1681-1689.e8 (2016)
DOI:10.1016/j.jaci.2016.04.032
Reference
PMID:27242165 (IMD52)
  Authors
Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P
  Title
Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.
  Journal
J Exp Med 213:1185-99 (2016)
DOI:10.1084/jem.20151110
Reference
PMID:26385063 (IMD53)
  Authors
Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM
  Title
The effects of RelB deficiency on lymphocyte development and function.
  Journal
J Autoimmun 65:90-100 (2015)
DOI:10.1016/j.jaut.2015.09.001
Reference
PMID:28530713 (IMD60)
  Authors
Afzali B, Gronholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ
  Title
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
  Journal
Nat Immunol 18:813-823 (2017)
DOI:10.1038/ni.3753
Reference
PMID:30521495 (IMD62)
  Authors
Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, Andre-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S
  Title
Loss of ARHGEF1 causes a human primary antibody deficiency.
  Journal
J Clin Invest 129:1047-1060 (2019)
DOI:10.1172/JCI120572
Reference
PMID:29155103 (IMD64)
  Authors
Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J, Ni K, Lv M, Liu C, Huang H, Chan KW, Pui-Wah Lee P, Tu W, Fischer A, Lau YL
  Title
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.
  Journal
J Allergy Clin Immunol 142:595-604.e16 (2018)
DOI:10.1016/j.jaci.2017.10.026
Reference
PMID:26224645 (IMD66)
  Authors
Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO
  Title
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
  Journal
Blood 126:1527-35 (2015)
DOI:10.1182/blood-2014-12-611012
Reference
PMID:32499645 (IMD70)
  Authors
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
  Title
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
  Journal
Nature 583:90-95 (2020)
DOI:10.1038/s41586-020-2265-1
Reference
PMID:32647003 (IMD72)
  Authors
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ
  Title
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
  Journal
Science 369:202-207 (2020)
DOI:10.1126/science.aay5663
Reference
PMID:32098969 (IMD76)
  Authors
Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E, Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A, Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K, Klein C
  Title
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
  Journal
Nat Commun 11:1031 (2020)
DOI:10.1038/s41467-020-14809-9
Reference
PMID:25414442 (IMD78)
  Authors
Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brummendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S
  Title
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
  Journal
Blood 125:753-61 (2015)
DOI:10.1182/blood-2014-08-593202
Reference
PMID:33471124 (IMD79)
  Authors
Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I
  Title
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
  Journal
J Infect Dis 223:645-654 (2021)
DOI:10.1093/infdis/jiab025
Reference
PMID:33231617 (IMD81)
  Authors
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R
  Title
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
  Journal
J Exp Med 218:e20201062 (2021)
DOI:10.1084/jem.20201062
Reference
PMID:33782605 (IMD82)
  Authors
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM
  Title
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
  Journal
Nat Genet 53:500-510 (2021)
DOI:10.1038/s41588-021-00803-4
Reference
PMID:34155405 (IMD84)
  Authors
Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, Imai K, Takagi M, Kanegane H, Takeuchi M, Shimojo N, Tsumura M, Padhi AK, Zhang KYJ, Boisson B, Casanova JL, Ohara O, Rosenzweig SD, Taniuchi I, Morio T
  Title
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
  Journal
Nat Immunol 22:893-903 (2021)
DOI:10.1038/s41590-021-00951-z
Reference
PMID:30127434 (IMD86)
  Authors
Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schroder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL
  Title
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
  Journal
Nat Immunol 19:973-985 (2018)
DOI:10.1038/s41590-018-0178-z
Reference
PMID:32562707 (IMD87)
  Authors
Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S
  Title
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.
  Journal
J Allergy Clin Immunol 147:740-743.e9 (2021)
DOI:10.1016/j.jaci.2020.05.052
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