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Immune dysregulation disease with immunodeficiency

MedGen UID:
1826081
Concept ID:
C5680458
Disease or Syndrome
Orphanet: ORPHA169361

Professional guidelines

PubMed

Zhao EJ, Cheng CV, Mattman A, Chen LYC
Lancet Haematol 2021 May;8(5):e365-e375. doi: 10.1016/S2352-3026(21)00056-9. PMID: 33894171
Henderson LA, Cron RQ
Paediatr Drugs 2020 Feb;22(1):29-44. doi: 10.1007/s40272-019-00367-1. PMID: 31732958Free PMC Article
Feinstein MJ, Hsue PY, Benjamin LA, Bloomfield GS, Currier JS, Freiberg MS, Grinspoon SK, Levin J, Longenecker CT, Post WS
Circulation 2019 Jul 9;140(2):e98-e124. Epub 2019 Jun 3 doi: 10.1161/CIR.0000000000000695. PMID: 31154814Free PMC Article

Recent clinical studies

Etiology

Carbone A, Vaccher E, Gloghini A
Blood 2022 Feb 17;139(7):995-1012. doi: 10.1182/blood.2020005469. PMID: 34469512
Bailin SS, Gabriel CL, Wanjalla CN, Koethe JR
Curr HIV/AIDS Rep 2020 Apr;17(2):138-150. doi: 10.1007/s11904-020-00483-5. PMID: 32072466Free PMC Article
Henderson LA, Cron RQ
Paediatr Drugs 2020 Feb;22(1):29-44. doi: 10.1007/s40272-019-00367-1. PMID: 31732958Free PMC Article
Tavakol M, Jamee M, Azizi G, Sadri H, Bagheri Y, Zaki-Dizaji M, Mahdavi FS, Jadidi-Niaragh F, Tajfirooz S, Kamali AN, Aghamahdi F, Noorian S, Kojidi HT, Mosavian M, Matani R, Dolatshahi E, Porrostami K, Elahimehr N, Fatemi-Abhari M, Sharifi L, Arjmand R, Haghi S, Zainaldain H, Yazdani R, Shaghaghi M, Abolhassani H, Aghamohammadi A
Endocr Metab Immune Disord Drug Targets 2020;20(2):157-171. doi: 10.2174/1871530319666190828125316. PMID: 31456526
Feinstein MJ, Hsue PY, Benjamin LA, Bloomfield GS, Currier JS, Freiberg MS, Grinspoon SK, Levin J, Longenecker CT, Post WS
Circulation 2019 Jul 9;140(2):e98-e124. Epub 2019 Jun 3 doi: 10.1161/CIR.0000000000000695. PMID: 31154814Free PMC Article

Diagnosis

Long A, Kleiner A, Looney RJ
J Allergy Clin Immunol 2023 Jan;151(1):70-80. doi: 10.1016/j.jaci.2022.11.001. PMID: 36608984
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I
J Clin Immunol 2022 Oct;42(7):1473-1507. Epub 2022 Jun 24 doi: 10.1007/s10875-022-01289-3. PMID: 35748970Free PMC Article
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG
J Clin Immunol 2020 Jan;40(1):66-81. Epub 2020 Feb 11 doi: 10.1007/s10875-020-00758-x. PMID: 32048120Free PMC Article
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
Ling M, Murali M
Clin Lab Med 2019 Dec;39(4):579-590. Epub 2019 Oct 3 doi: 10.1016/j.cll.2019.07.006. PMID: 31668271

Therapy

Kraft S, Buchenauer L, Polte T
Int J Mol Sci 2021 Nov 12;22(22) doi: 10.3390/ijms222212269. PMID: 34830149Free PMC Article
Goldman JD, Robinson PC, Uldrick TS, Ljungman P
J Immunother Cancer 2021 Jun;9(6) doi: 10.1136/jitc-2021-002630. PMID: 34117116Free PMC Article
Zhao EJ, Cheng CV, Mattman A, Chen LYC
Lancet Haematol 2021 May;8(5):e365-e375. doi: 10.1016/S2352-3026(21)00056-9. PMID: 33894171
Hill GR, Betts BC, Tkachev V, Kean LS, Blazar BR
Annu Rev Immunol 2021 Apr 26;39:19-49. Epub 2021 Jan 11 doi: 10.1146/annurev-immunol-102119-073227. PMID: 33428454Free PMC Article
Bailin SS, Gabriel CL, Wanjalla CN, Koethe JR
Curr HIV/AIDS Rep 2020 Apr;17(2):138-150. doi: 10.1007/s11904-020-00483-5. PMID: 32072466Free PMC Article

Prognosis

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
Goldman JD, Robinson PC, Uldrick TS, Ljungman P
J Immunother Cancer 2021 Jun;9(6) doi: 10.1136/jitc-2021-002630. PMID: 34117116Free PMC Article
Costagliola G, Consolini R
Clin Exp Immunol 2021 Sep;205(3):288-305. Epub 2021 Jun 20 doi: 10.1111/cei.13620. PMID: 34008169Free PMC Article
Lamers OAC, Smits BM, Leavis HL, de Bree GJ, Cunningham-Rundles C, Dalm VASH, Ho HE, Hurst JR, IJspeert H, Prevaes SMPJ, Robinson A, van Stigt AC, Terheggen-Lagro S, van de Ven AAJM, Warnatz K, van de Wijgert JHHM, van Montfrans J
Front Immunol 2021;12:606099. Epub 2021 Apr 15 doi: 10.3389/fimmu.2021.606099. PMID: 33936030Free PMC Article
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article

Clinical prediction guides

Belizaire R, Wong WJ, Robinette ML, Ebert BL
Nat Rev Immunol 2023 Sep;23(9):595-610. Epub 2023 Mar 20 doi: 10.1038/s41577-023-00843-3. PMID: 36941354
Kraft S, Buchenauer L, Polte T
Int J Mol Sci 2021 Nov 12;22(22) doi: 10.3390/ijms222212269. PMID: 34830149Free PMC Article
Costagliola G, Consolini R
Clin Exp Immunol 2021 Sep;205(3):288-305. Epub 2021 Jun 20 doi: 10.1111/cei.13620. PMID: 34008169Free PMC Article
Feinstein MJ, Hsue PY, Benjamin LA, Bloomfield GS, Currier JS, Freiberg MS, Grinspoon SK, Levin J, Longenecker CT, Post WS
Circulation 2019 Jul 9;140(2):e98-e124. Epub 2019 Jun 3 doi: 10.1161/CIR.0000000000000695. PMID: 31154814Free PMC Article
Umetsu SE, Brown I, Langner C, Lauwers GY
Virchows Arch 2018 Jan;472(1):55-66. Epub 2017 Oct 11 doi: 10.1007/s00428-017-2243-7. PMID: 29022145

Recent systematic reviews

Bintalib HM, van de Ven A, Jacob J, Davidsen JR, Fevang B, Hanitsch LG, Malphettes M, van Montfrans J, Maglione PJ, Milito C, Routes J, Warnatz K, Hurst JR
Front Immunol 2023;14:1190235. Epub 2023 May 8 doi: 10.3389/fimmu.2023.1190235. PMID: 37223103Free 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
Lamers OAC, Smits BM, Leavis HL, de Bree GJ, Cunningham-Rundles C, Dalm VASH, Ho HE, Hurst JR, IJspeert H, Prevaes SMPJ, Robinson A, van Stigt AC, Terheggen-Lagro S, van de Ven AAJM, Warnatz K, van de Wijgert JHHM, van Montfrans J
Front Immunol 2021;12:606099. Epub 2021 Apr 15 doi: 10.3389/fimmu.2021.606099. PMID: 33936030Free PMC Article
Mauracher AA, Gujer E, Bachmann LM, Güsewell S, Pachlopnik Schmid J
J Allergy Clin Immunol Pract 2021 Feb;9(2):792-802.e10. Epub 2020 Nov 11 doi: 10.1016/j.jaip.2020.10.057. PMID: 33186766
Ramzi N, Jamee M, Bakhtiyari M, Rafiemanesh H, Zainaldain H, Tavakol M, Rezaei A, Kalvandi M, Zian Z, Mohammadi H, Jadidi-Niaragh F, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Pediatr Pulmonol 2020 Feb;55(2):292-299. Epub 2019 Dec 13 doi: 10.1002/ppul.24599. PMID: 31833673

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