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Immunodeficiency 106, susceptibility to viral infections(IMD106)

MedGen UID:
1804672
Concept ID:
C5677009
Disease or Syndrome
Synonyms: IFNAR1 DEFICIENCY; IMD106
 
Gene (location): IFNAR1 (21q22.11)
 
Monarch Initiative: MONDO:0030970
OMIM®: 619935

Definition

Immunodeficiency-106 (IMD106) is an autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Some patients present with recurrent respiratory infections or other viral infections. In many cases, the susceptibility to viral infections due to IMD106 only becomes apparent after initial vaccination with live attenuated viral (LAV) vaccines, most notably MMR and yellow fever. A subset of IMD106 patients who demonstrate adverse reactions to MMR or other LAV vaccinations develop a severe acute hyperinflammatory response reminiscent of hemophagocytic lymphohistiocytosis (HLH) and may show encephalopathy, acute respiratory distress syndrome, and multiorgan failure. However, some patients with IMD106 tolerate MMR vaccination without sequelae. IFNAR1 deficiency may also predispose to severe respiratory infection with SARS-CoV-2 and to herpes simplex virus-1 (HSV1) encephalitis (HSE). The disorder results from an impaired type I interferon signaling response (Bastard et al., 2022). [from OMIM]

Clinical features

From HPO
Post-vaccination measles
MedGen UID:
1688337
Concept ID:
C5139071
Disease or Syndrome
Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.
Post-vaccination yellow fever
MedGen UID:
1815065
Concept ID:
C5706159
Disease or Syndrome
Infection with the yellow fever virus of the live-attenuated vaccine.

Professional guidelines

PubMed

van de Water BJ, Brooks MB, Huang CC, Trevisi L, Lecca L, Contreras C, Galea J, Calderon R, Yataco R, Murray M, Becerra MC
BMC Infect Dis 2020 Sep 18;20(1):686. doi: 10.1186/s12879-020-05416-6. PMID: 32948149Free PMC Article
Visco-Comandini U, Balotta C
Scand J Infect Dis Suppl 2003;106:75-8. PMID: 15000590
Narciso P, Lazzarin A
Scand J Infect Dis Suppl 2003;106:66-70. PMID: 15000588

Recent clinical studies

Etiology

Li K, Zhang C, Deng J, Zeng H, Zhang Y, Lai G, Zhong X, Xie B
BMC Infect Dis 2024 Mar 4;24(1):280. doi: 10.1186/s12879-024-09176-5. PMID: 38438963Free PMC Article
Mohsin N, Hunt D, Yan J, Jabbour AJ, Nghiem P, Choi J, Zhang Y, Freeman AF, Bergerson JRE, Dell'Orso S, Lachance K, Kulikauskas R, Collado L, Cao W, Lack J, Similuk M, Seifert BA, Ghosh R, Walkiewicz MA, Brownell I
JAMA Dermatol 2024 Feb 1;160(2):172-178. doi: 10.1001/jamadermatol.2023.5362. PMID: 38170500Free PMC Article
Sinclair M, Wyatt CM
Contrib Nephrol 2021;199:106-113. Epub 2021 Aug 3 doi: 10.1159/000517702. PMID: 34344001
Manosuthi W, Wiboonchutikul S, Sungkanuparph S
AIDS Res Ther 2016;13:22. Epub 2016 May 12 doi: 10.1186/s12981-016-0106-y. PMID: 27182275Free PMC Article
De Felici A
Scand J Infect Dis Suppl 2003;106:21-3. doi: 10.1080/03008870310009605. PMID: 15000577

Diagnosis

Li K, Zhang C, Deng J, Zeng H, Zhang Y, Lai G, Zhong X, Xie B
BMC Infect Dis 2024 Mar 4;24(1):280. doi: 10.1186/s12879-024-09176-5. PMID: 38438963Free PMC Article
Manosuthi W, Wiboonchutikul S, Sungkanuparph S
AIDS Res Ther 2016;13:22. Epub 2016 May 12 doi: 10.1186/s12981-016-0106-y. PMID: 27182275Free PMC Article
Keddy KH, Sooka A, Musekiwa A, Smith AM, Ismail H, Tau NP, Crowther-Gibson P, Angulo FJ, Klugman KP; Group for Enteric, Respiratory and Meningeal Disease Surveillance in South Africa (GERMS-SA)
Clin Infect Dis 2015 Nov 1;61 Suppl 4(Suppl 4):S272-82. doi: 10.1093/cid/civ685. PMID: 26449942Free PMC Article
Andreoni M
Scand J Infect Dis Suppl 2003;106:35-6. doi: 10.1080/03008870310009632. PMID: 15000580
De Felici A
Scand J Infect Dis Suppl 2003;106:21-3. doi: 10.1080/03008870310009605. PMID: 15000577

Therapy

Li K, Zhang C, Deng J, Zeng H, Zhang Y, Lai G, Zhong X, Xie B
BMC Infect Dis 2024 Mar 4;24(1):280. doi: 10.1186/s12879-024-09176-5. PMID: 38438963Free PMC Article
Sinclair M, Wyatt CM
Contrib Nephrol 2021;199:106-113. Epub 2021 Aug 3 doi: 10.1159/000517702. PMID: 34344001
Manosuthi W, Wiboonchutikul S, Sungkanuparph S
AIDS Res Ther 2016;13:22. Epub 2016 May 12 doi: 10.1186/s12981-016-0106-y. PMID: 27182275Free PMC Article
Andreoni M
Scand J Infect Dis Suppl 2003;106:35-6. doi: 10.1080/03008870310009632. PMID: 15000580
De Felici A
Scand J Infect Dis Suppl 2003;106:21-3. doi: 10.1080/03008870310009605. PMID: 15000577

Prognosis

Silke F, Earl L, Hsu J, Janko MM, Joffe J, Memetova A, Michael D, Zheng P, Aravkin A, Murray CJL, Weaver MR
Lancet Glob Health 2024 Jul;12(7):e1159-e1173. doi: 10.1016/S2214-109X(24)00181-5. PMID: 38876762Free PMC Article
Keddy KH, Sooka A, Musekiwa A, Smith AM, Ismail H, Tau NP, Crowther-Gibson P, Angulo FJ, Klugman KP; Group for Enteric, Respiratory and Meningeal Disease Surveillance in South Africa (GERMS-SA)
Clin Infect Dis 2015 Nov 1;61 Suppl 4(Suppl 4):S272-82. doi: 10.1093/cid/civ685. PMID: 26449942Free PMC Article
Zhuang K, Finzi A, Toma J, Frantzell A, Huang W, Sodroski J, Cheng-Mayer C
Retrovirology 2012 Dec 13;9:106. doi: 10.1186/1742-4690-9-106. PMID: 23237529Free PMC Article
Visco-Comandini U, Balotta C
Scand J Infect Dis Suppl 2003;106:75-8. PMID: 15000590
De Felici A
Scand J Infect Dis Suppl 2003;106:21-3. doi: 10.1080/03008870310009605. PMID: 15000577

Clinical prediction guides

Silke F, Earl L, Hsu J, Janko MM, Joffe J, Memetova A, Michael D, Zheng P, Aravkin A, Murray CJL, Weaver MR
Lancet Glob Health 2024 Jul;12(7):e1159-e1173. doi: 10.1016/S2214-109X(24)00181-5. PMID: 38876762Free PMC Article
Li K, Zhang C, Deng J, Zeng H, Zhang Y, Lai G, Zhong X, Xie B
BMC Infect Dis 2024 Mar 4;24(1):280. doi: 10.1186/s12879-024-09176-5. PMID: 38438963Free PMC Article
Thorball CW, Oudot-Mellakh T, Ehsan N, Hammer C, Santoni FA, Niay J, Costagliola D, Goujard C, Meyer L, Wang SS, Hussain SK, Theodorou I, Cavassini M, Rauch A, Battegay M, Hoffmann M, Schmid P, Bernasconi E, Günthard HF, Mohammadi P, McLaren PJ, Rabkin CS, Besson C, Fellay J
Haematologica 2021 Aug 1;106(8):2233-2241. doi: 10.3324/haematol.2020.247023. PMID: 32675224Free PMC Article
Keddy KH, Sooka A, Musekiwa A, Smith AM, Ismail H, Tau NP, Crowther-Gibson P, Angulo FJ, Klugman KP; Group for Enteric, Respiratory and Meningeal Disease Surveillance in South Africa (GERMS-SA)
Clin Infect Dis 2015 Nov 1;61 Suppl 4(Suppl 4):S272-82. doi: 10.1093/cid/civ685. PMID: 26449942Free PMC Article
Narciso P, Lazzarin A
Scand J Infect Dis Suppl 2003;106:66-70. PMID: 15000588

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