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Immune dysregulation disease with immunodeficiency

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

Professional guidelines

PubMed

Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S
J Allergy Clin Immunol 2023 Oct;152(4):972-983. Epub 2023 Jun 19 doi: 10.1016/j.jaci.2023.06.004. PMID: 37343845
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
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

Recent clinical studies

Etiology

Remiker A, Bolling K, Verbsky J
Med Clin North Am 2024 Jan;108(1):107-121. Epub 2023 Jul 21 doi: 10.1016/j.mcna.2023.06.012. PMID: 37951645
Wang SS
Semin Hematol 2023 Nov;60(5):255-266. Epub 2023 Nov 27 doi: 10.1053/j.seminhematol.2023.11.004. PMID: 38242772Free PMC Article
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
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

Diagnosis

Remiker A, Bolling K, Verbsky J
Med Clin North Am 2024 Jan;108(1):107-121. Epub 2023 Jul 21 doi: 10.1016/j.mcna.2023.06.012. PMID: 37951645
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: 31690396Free PMC Article

Therapy

Berglund LJ
J Clin Immunol 2023 Dec 27;44(1):34. doi: 10.1007/s10875-023-01626-0. PMID: 38148368Free PMC Article
Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S
J Allergy Clin Immunol 2023 Oct;152(4):972-983. Epub 2023 Jun 19 doi: 10.1016/j.jaci.2023.06.004. PMID: 37343845
Kraft S, Buchenauer L, Polte T
Int J Mol Sci 2021 Nov 12;22(22) doi: 10.3390/ijms222212269. PMID: 34830149Free 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
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

Wang SS
Semin Hematol 2023 Nov;60(5):255-266. Epub 2023 Nov 27 doi: 10.1053/j.seminhematol.2023.11.004. PMID: 38242772Free PMC Article
Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, Haskologlu ZS, Akay Haci I, Tunakan Dalgic C, Karabiber E, Bilgic Eltan S, Yorgun Altunbas M, Sefer AP, Sezer A, Kokcu Karadag SI, Arik E, Karali Z, Ozhan Kont A, Tuzer C, Karaman S, Mersin SS, Kasap N, Celik E, Kocacik Uygun DF, Aydemir S, Kiykim A, Aydogmus C, Ozek Yucel E, Celmeli F, Karatay E, Bozkurtlar E, Demir S, Metin A, Karaca NE, Kutukculer N, Aksu G, Guner SN, Keles S, Reisli I, Kendir Demirkol Y, Arikoglu T, Gulez N, Genel F, Kilic SS, Aytekin C, Keskin O, Yildiran A, Ozcan D, Altintas DU, Ardeniz FO, Dogu EF, Ikinciogullari KA, Karakoc-Aydiner E, Ozen A, Baris S
J Allergy Clin Immunol 2023 Dec;152(6):1634-1645. Epub 2023 Aug 16 doi: 10.1016/j.jaci.2023.08.004. PMID: 37595759
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
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

Clinical prediction guides

Wang SS
Semin Hematol 2023 Nov;60(5):255-266. Epub 2023 Nov 27 doi: 10.1053/j.seminhematol.2023.11.004. PMID: 38242772Free PMC Article
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F
Blood 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. PMID: 36952639
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: 36941354Free PMC Article
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Kraft S, Buchenauer L, Polte T
Int J Mol Sci 2021 Nov 12;22(22) doi: 10.3390/ijms222212269. PMID: 34830149Free PMC Article

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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