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Immune deficiency with skin involvement

MedGen UID:
833279
Concept ID:
CN229184
Finding
Orphanet: ORPHA79391

Professional guidelines

PubMed

Lurje I, Gaisa NT, Weiskirchen R, Tacke F
Mol Aspects Med 2023 Aug;92:101191. Epub 2023 May 24 doi: 10.1016/j.mam.2023.101191. PMID: 37236017
Gauci ML, Aristei C, Becker JC, Blom A, Bataille V, Dreno B, Del Marmol V, Forsea AM, Fargnoli MC, Grob JJ, Gomes F, Hauschild A, Hoeller C, Harwood C, Kelleners-Smeets N, Kaufmann R, Lallas A, Malvehy J, Moreno-Ramirez D, Peris K, Pellacani G, Saiag P, Stratigos AJ, Vieira R, Zalaudek I, van Akkooi ACJ, Lorigan P, Garbe C, Lebbé C; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Aug;171:203-231. Epub 2022 Jun 19 doi: 10.1016/j.ejca.2022.03.043. PMID: 35732101
Wolff H, Fischer TW, Blume-Peytavi U
Dtsch Arztebl Int 2016 May 27;113(21):377-86. doi: 10.3238/arztebl.2016.0377. PMID: 27504707Free PMC Article

Recent clinical studies

Etiology

Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
Gauci ML, Aristei C, Becker JC, Blom A, Bataille V, Dreno B, Del Marmol V, Forsea AM, Fargnoli MC, Grob JJ, Gomes F, Hauschild A, Hoeller C, Harwood C, Kelleners-Smeets N, Kaufmann R, Lallas A, Malvehy J, Moreno-Ramirez D, Peris K, Pellacani G, Saiag P, Stratigos AJ, Vieira R, Zalaudek I, van Akkooi ACJ, Lorigan P, Garbe C, Lebbé C; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Aug;171:203-231. Epub 2022 Jun 19 doi: 10.1016/j.ejca.2022.03.043. PMID: 35732101
Song A, Mousa HM, Soifer M, Perez VL
Curr Opin Pediatr 2022 Apr 1;34(2):241-247. doi: 10.1097/MOP.0000000000001110. PMID: 35125379Free PMC Article
Yan J, Zhao W, Yu W, Cheng H, Zhu B
Genomics 2022 Jan;114(1):316-327. Epub 2021 Dec 18 doi: 10.1016/j.ygeno.2021.11.037. PMID: 34929286
Carbone A, Borok M, Damania B, Gloghini A, Polizzotto MN, Jayanthan RK, Fajgenbaum DC, Bower M
Nat Rev Dis Primers 2021 Nov 25;7(1):84. doi: 10.1038/s41572-021-00317-7. PMID: 34824298Free PMC Article

Diagnosis

Mitjà O, Alemany A, Marks M, Lezama Mora JI, Rodríguez-Aldama JC, Torres Silva MS, Corral Herrera EA, Crabtree-Ramirez B, Blanco JL, Girometti N, Mazzotta V, Hazra A, Silva M, Montenegro-Idrogo JJ, Gebo K, Ghosn J, Peña Vázquez MF, Matos Prado E, Unigwe U, Villar-García J, Wald-Dickler N, Zucker J, Paredes R, Calmy A, Waters L, Galvan-Casas C, Walmsley S, Orkin CM; SHARE-NET writing group
Lancet 2023 Mar 18;401(10380):939-949. Epub 2023 Feb 21 doi: 10.1016/S0140-6736(23)00273-8. PMID: 36828001
Reddy DL, Nel J, Govender NP
J Mycol Med 2023 Mar;33(1):101313. Epub 2022 Jul 23 doi: 10.1016/j.mycmed.2022.101313. PMID: 36272380
Carbone A, Borok M, Damania B, Gloghini A, Polizzotto MN, Jayanthan RK, Fajgenbaum DC, Bower M
Nat Rev Dis Primers 2021 Nov 25;7(1):84. doi: 10.1038/s41572-021-00317-7. PMID: 34824298Free PMC Article
Wolff H, Fischer TW, Blume-Peytavi U
Dtsch Arztebl Int 2016 May 27;113(21):377-86. doi: 10.3238/arztebl.2016.0377. PMID: 27504707Free PMC Article
Wessendorf TE, Bonella F, Costabel U
Clin Rev Allergy Immunol 2015 Aug;49(1):54-62. doi: 10.1007/s12016-015-8475-x. PMID: 25779004

Therapy

Gauci ML, Aristei C, Becker JC, Blom A, Bataille V, Dreno B, Del Marmol V, Forsea AM, Fargnoli MC, Grob JJ, Gomes F, Hauschild A, Hoeller C, Harwood C, Kelleners-Smeets N, Kaufmann R, Lallas A, Malvehy J, Moreno-Ramirez D, Peris K, Pellacani G, Saiag P, Stratigos AJ, Vieira R, Zalaudek I, van Akkooi ACJ, Lorigan P, Garbe C, Lebbé C; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Aug;171:203-231. Epub 2022 Jun 19 doi: 10.1016/j.ejca.2022.03.043. PMID: 35732101
Song A, Mousa HM, Soifer M, Perez VL
Curr Opin Pediatr 2022 Apr 1;34(2):241-247. doi: 10.1097/MOP.0000000000001110. PMID: 35125379Free PMC Article
Carbone A, Borok M, Damania B, Gloghini A, Polizzotto MN, Jayanthan RK, Fajgenbaum DC, Bower M
Nat Rev Dis Primers 2021 Nov 25;7(1):84. doi: 10.1038/s41572-021-00317-7. PMID: 34824298Free PMC Article
Weidinger S, Beck LA, Bieber T, Kabashima K, Irvine AD
Nat Rev Dis Primers 2018 Jun 21;4(1):1. doi: 10.1038/s41572-018-0001-z. PMID: 29930242
Wolff H, Fischer TW, Blume-Peytavi U
Dtsch Arztebl Int 2016 May 27;113(21):377-86. doi: 10.3238/arztebl.2016.0377. PMID: 27504707Free PMC Article

Prognosis

Reddy DL, Nel J, Govender NP
J Mycol Med 2023 Mar;33(1):101313. Epub 2022 Jul 23 doi: 10.1016/j.mycmed.2022.101313. PMID: 36272380
Gauci ML, Aristei C, Becker JC, Blom A, Bataille V, Dreno B, Del Marmol V, Forsea AM, Fargnoli MC, Grob JJ, Gomes F, Hauschild A, Hoeller C, Harwood C, Kelleners-Smeets N, Kaufmann R, Lallas A, Malvehy J, Moreno-Ramirez D, Peris K, Pellacani G, Saiag P, Stratigos AJ, Vieira R, Zalaudek I, van Akkooi ACJ, Lorigan P, Garbe C, Lebbé C; European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization for Research and Treatment of Cancer (EORTC)
Eur J Cancer 2022 Aug;171:203-231. Epub 2022 Jun 19 doi: 10.1016/j.ejca.2022.03.043. PMID: 35732101
Carbone A, Borok M, Damania B, Gloghini A, Polizzotto MN, Jayanthan RK, Fajgenbaum DC, Bower M
Nat Rev Dis Primers 2021 Nov 25;7(1):84. doi: 10.1038/s41572-021-00317-7. PMID: 34824298Free PMC Article
Weidinger S, Beck LA, Bieber T, Kabashima K, Irvine AD
Nat Rev Dis Primers 2018 Jun 21;4(1):1. doi: 10.1038/s41572-018-0001-z. PMID: 29930242
Wessendorf TE, Bonella F, Costabel U
Clin Rev Allergy Immunol 2015 Aug;49(1):54-62. doi: 10.1007/s12016-015-8475-x. PMID: 25779004

Clinical prediction guides

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
Ramezani S, Rezaee SA, Farjami Z, Ebrahimi N, Abdullabass HK, Ibrahim Jebur MI, Rafatpanah H, Akbarin MM
Microb Pathog 2022 Aug;169:105622. Epub 2022 Jun 7 doi: 10.1016/j.micpath.2022.105622. PMID: 35688412
Cinicola BL, Corrente S, Castagnoli R, Lougaris V, Giardino G, Leonardi L, Volpi S, La Torre F, Federici S, Soresina A, Cancrini C, Marseglia GL, Cardinale F; Immunology Task Force of the Italian Society of Pediatric Allergy, Immunology (SIAIP)
Pediatr Allergy Immunol 2022 Jan;33 Suppl 27(Suppl 27):65-68. doi: 10.1111/pai.13633. PMID: 35080318Free PMC Article
Schmitt A, Volz A
J Dtsch Dermatol Ges 2019 May;17(5):518-533. doi: 10.1111/ddg.13848. PMID: 31115996
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article

Recent systematic reviews

Moosazadeh M, Damiani G, Khademloo M, Kheradmand M, Nabinezhad-Male F, Hessami A
J Evid Based Integr Med 2023 Jan-Dec;28:2515690X231211663. doi: 10.1177/2515690X231211663. PMID: 37936396Free PMC Article
Phelan R, Im A, Hunter RL, Inamoto Y, Lupo-Stanghellini MT, Rovo A, Badawy SM, Burns L, Eissa H, Murthy HS, Prasad P, Sharma A, Suelzer E, Agrawal V, Aljurf M, Baker K, Basak GW, Buchbinder D, DeFilipp Z, Grkovic LD, Dias A, Einsele H, Eisenberg ML, Epperla N, Farhadfar N, Flatau A, Gale RP, Greinix H, Hamilton BK, Hashmi S, Hematti P, Jamani K, Maharaj D, Murray J, Naik S, Nathan S, Pavletic S, Peric Z, Pulanic D, Ross R, Salonia A, Sanchez-Ortega I, Savani BN, Schechter T, Shah AJ, Smith SM, Snowden JA, Steinberg A, Tremblay D, Vij SC, Walker L, Wolff D, Yared JA, Schoemans H, Tichelli A
Transplant Cell Ther 2022 Jun;28(6):335.e1-335.e17. Epub 2021 Oct 29 doi: 10.1016/j.jtct.2021.10.013. PMID: 34757220Free PMC Article
Almeida MA, Almeida-Silva F, Guimarães AJ, Almeida-Paes R, Zancopé-Oliveira RM
Int J Infect Dis 2019 Sep;86:147-156. Epub 2019 Jul 19 doi: 10.1016/j.ijid.2019.07.009. PMID: 31330326
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article
Mylona EE, Baraboutis IG, Lekakis LJ, Georgiou O, Papastamopoulos V, Skoutelis A
AIDS Rev 2008 Jan-Mar;10(1):25-35. PMID: 18385778

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