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Immunodeficiency due to Functional Defects

MedGen UID:
1780510
Concept ID:
C5447360
Disease or Syndrome

Definition

An indication that an immunodeficiency disorder is caused by the presence of immune cells that are dysfunctional. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to Functional Defects

Professional guidelines

PubMed

Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113

Recent clinical studies

Etiology

Ballow M, Sánchez-Ramón S, Walter JE
Front Immunol 2022;13:928062. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.928062. PMID: 35924244Free PMC Article
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
Sawada T, Fujimori D, Yamamoto Y
Immunol Med 2019 Mar;42(1):1-9. Epub 2019 Jun 17 doi: 10.1080/25785826.2019.1628466. PMID: 31204893
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article

Diagnosis

Demirdag Y, Fuleihan R, Orange JS, Yu JE
Curr Opin Pediatr 2021 Dec 1;33(6):657-675. doi: 10.1097/MOP.0000000000001075. PMID: 34670265
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
Amaya-Uribe L, Rojas M, Azizi G, Anaya JM, Gershwin ME
J Autoimmun 2019 May;99:52-72. Epub 2019 Feb 20 doi: 10.1016/j.jaut.2019.01.011. PMID: 30795880
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Peacock ME, Arce RM, Cutler CW
Oral Dis 2017 Oct;23(7):866-888. Epub 2016 Oct 10 doi: 10.1111/odi.12584. PMID: 27630012Free PMC Article

Therapy

van Leeuwen LPM, GeurtsvanKessel CH, Ellerbroek PM, de Bree GJ, Potjewijd J, Rutgers A, Jolink H, van de Veerdonk F, van Gorp ECM, de Wilt F, Bogers S, Gommers L, Geers D, Bruns AHW, Leavis HL, van Haga JW, Lemkes BA, van der Veen A, de Kruijf-Bazen SFJ, van Paassen P, de Leeuw K, van de Ven AAJM, Verbeek-Menken PH, van Wengen A, Arend SM, Ruten-Budde AJ, van der Ent MW, van Hagen PM, Sanders RW, Grobben M, van der Straten K, Burger JA, Poniman M, Nierkens S, van Gils MJ, de Vries RD, Dalm VASH
J Allergy Clin Immunol 2022 Jun;149(6):1949-1957. Epub 2022 Apr 11 doi: 10.1016/j.jaci.2022.04.002. PMID: 35421449Free PMC Article
Egri N, Esteve-Solé A, Deyà-Martínez À, Ortiz de Landazuri I, Vlagea A, García AP, Cardozo C, Garcia-Vidal C, Bartolomé CS, Español-Rego M, Yiyi L, Bosch-Amate X, Ferrando J, Yagüe J, Juan M, Alsina L
Allergol Immunopathol (Madr) 2021;49(1):118-127. Epub 2021 Jan 2 doi: 10.15586/aei.v49i1.20. PMID: 33528939
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K
Blood 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. PMID: 32603431Free PMC Article
Sawada T, Fujimori D, Yamamoto Y
Immunol Med 2019 Mar;42(1):1-9. Epub 2019 Jun 17 doi: 10.1080/25785826.2019.1628466. PMID: 31204893
Dhalla F, Misbah SA
Curr Opin Allergy Clin Immunol 2015 Dec;15(6):505-13. doi: 10.1097/ACI.0000000000000215. PMID: 26406183

Prognosis

Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505
Song J, Lleo A, Yang GX, Zhang W, Bowlus CL, Gershwin ME, Leung PSC
Clin Rev Allergy Immunol 2018 Dec;55(3):340-351. doi: 10.1007/s12016-017-8638-z. PMID: 28785926Free PMC Article
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article

Clinical prediction guides

Anginot A, Nguyen J, Abou Nader Z, Rondeau V, Bonaud A, Kalogeraki M, Boutin A, Lemos JP, Bisio V, Koenen J, Hanna Doumit Sakr L, Picart A, Coudert A, Provot S, Dulphy N, Aurrand-Lions M, Mancini SJC, Lazennec G, McDermott DH, Guidez F, Blin-Wakkach C, Murphy PM, Cohen-Solal M, Espéli M, Rouleau M, Balabanian K
Nat Commun 2023 Apr 12;14(1):2058. doi: 10.1038/s41467-023-37791-4. PMID: 37045841Free PMC Article
Tomkinson AE, Naila T, Khattri Bhandari S
Mutagenesis 2020 Feb 13;35(1):51-60. doi: 10.1093/mutage/gez026. PMID: 31630206Free PMC Article
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ
J Clin Immunol 2018 May;38(4):484-493. Epub 2018 May 9 doi: 10.1007/s10875-018-0496-9. PMID: 29744787
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article

Recent systematic reviews

Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM
Front Immunol 2021;12:671755. Epub 2021 Aug 10 doi: 10.3389/fimmu.2021.671755. PMID: 34447369Free PMC Article
Zhang W, Chen X, Gao G, Xing S, Zhou L, Tang X, Zhao X, An Y
Front Immunol 2021;12:654406. Epub 2021 Mar 11 doi: 10.3389/fimmu.2021.654406. PMID: 33777053Free PMC Article
Terpos E, Ntanasis-Stathopoulos I, Elalamy I, Kastritis E, Sergentanis TN, Politou M, Psaltopoulou T, Gerotziafas G, Dimopoulos MA
Am J Hematol 2020 Jul;95(7):834-847. Epub 2020 May 23 doi: 10.1002/ajh.25829. PMID: 32282949Free PMC Article
Rosen MJ, Ireland B, Narasimhan M, French C, Irwin RS; CHEST Expert Cough Panel
Chest 2017 Nov;152(5):1038-1042. Epub 2017 Aug 19 doi: 10.1016/j.chest.2017.07.039. PMID: 28830820Free PMC Article

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