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

PMID:22165913

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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Disease (20)   
   OMIM (20)   
Gene (40)   
   KEGG ORTHOLOGY (20)   
   KEGG GENES (20)   
Literature (20)   
   PubMed (20)   
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