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Immunodeficiency 39(IMD39)

MedGen UID:
904167
Concept ID:
C4225358
Disease or Syndrome
Synonym: IMD39
SNOMED CT: Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency (1269234000); Predisposition to severe viral infection due to IRF7 deficiency (1269234000)
 
Gene (location): IRF7 (11p15.5)
 
Monarch Initiative: MONDO:0014597
OMIM®: 616345

Definition

A rare primary immunodeficiency with characteristics of a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. [from SNOMEDCT_US]

Clinical features

From HPO
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Severe influenza infection
MedGen UID:
1814393
Concept ID:
C5676829
Disease or Syndrome
An unusually severe infection by an influenza virus.

Professional guidelines

PubMed

Cao W, Hsieh E, Li T
Curr HIV/AIDS Rep 2020 Feb;17(1):26-34. doi: 10.1007/s11904-019-00478-x. PMID: 31939111Free PMC Article
Tilles SA
Immunol Allergy Clin North Am 2019 Feb;39(1):ix-x. doi: 10.1016/j.iac.2018.09.002. PMID: 30466776
Heimall J
Immunol Allergy Clin North Am 2019 Feb;39(1):129-140. doi: 10.1016/j.iac.2018.08.009. PMID: 30466769

Recent clinical studies

Etiology

Farmer JR, Mahajan VS
Clin Lab Med 2019 Dec;39(4):685-697. Epub 2019 Sep 26 doi: 10.1016/j.cll.2019.07.013. PMID: 31668278
Mazza JM, Lin SY
Int Forum Allergy Rhinol 2016 Oct;6(10):1029-1033. Epub 2016 May 17 doi: 10.1002/alr.21789. PMID: 27187624
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B
Blood 2009 Feb 26;113(9):1967-76. Epub 2008 Nov 3 doi: 10.1182/blood-2008-02-141937. PMID: 18981294Free PMC Article
Gerritsen E, Vossen J, van Tol M, Jol-van der Zijde C, Van der Weijden-Ragas R, Radl J
J Clin Immunol 1989 Jul;9(4):296-305. doi: 10.1007/BF00918661. PMID: 2504763
Perry SW, Markowitz JC
Hosp Community Psychiatry 1988 Jul;39(7):731-9. doi: 10.1176/ps.39.7.731. PMID: 3042588

Diagnosis

van Heuvel Y, Schatz S, Rosengarten JF, Stitz J
Toxins (Basel) 2022 Feb 14;14(2) doi: 10.3390/toxins14020138. PMID: 35202165Free PMC Article
Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM
J Clin Immunol 2019 Aug;39(6):532-556. Epub 2019 Jul 16 doi: 10.1007/s10875-019-00665-w. PMID: 31313072Free PMC Article
Kobrynski LJ
Immunol Allergy Clin North Am 2019 Feb;39(1):xi-xii. Epub 2018 Nov 1 doi: 10.1016/j.iac.2018.09.001. PMID: 30466777
Tilles SA
Immunol Allergy Clin North Am 2019 Feb;39(1):ix-x. doi: 10.1016/j.iac.2018.09.002. PMID: 30466776
Agarwal S, Cunningham-Rundles C
Immunol Allergy Clin North Am 2019 Feb;39(1):81-94. doi: 10.1016/j.iac.2018.08.006. PMID: 30466774Free PMC Article

Therapy

Marzinke MA, Hanscom B, Wang Z, Safren SA, Psaros C, Donnell D, Richardson PA, Sullivan P, Eshleman SH, Jennings A, Feliciano KG, Jalil E, Coutinho C, Cardozo N, Maia B, Khan T, Singh Y, Middelkoop K, Franks J, Valencia J, Sanchez N, Lucas J, Rooney JF, Rinehart AR, Ford S, Adeyeye A, Cohen MS, McCauley M, Landovitz RJ, Grinsztejn B; HPTN 083 study group
Lancet HIV 2023 Nov;10(11):e703-e712. Epub 2023 Sep 29 doi: 10.1016/S2352-3018(23)00200-X. PMID: 37783219Free PMC Article
van Heuvel Y, Schatz S, Rosengarten JF, Stitz J
Toxins (Basel) 2022 Feb 14;14(2) doi: 10.3390/toxins14020138. PMID: 35202165Free PMC Article
Bonagura VR
J Clin Immunol 2019 Apr;39(3):229-230. Epub 2019 May 17 doi: 10.1007/s10875-019-00636-1. PMID: 31102034
Mason-Jones AJ, Sinclair D, Mathews C, Kagee A, Hillman A, Lombard C
Cochrane Database Syst Rev 2016 Nov 8;11(11):CD006417. doi: 10.1002/14651858.CD006417.pub3. PMID: 27824221Free PMC Article
Connor EM, Sperling RS, Gelber R, Kiselev P, Scott G, O'Sullivan MJ, VanDyke R, Bey M, Shearer W, Jacobson RL
N Engl J Med 1994 Nov 3;331(18):1173-80. doi: 10.1056/NEJM199411033311801. PMID: 7935654

Prognosis

Bassat Q, Blau DM, Ogbuanu IU, Samura S, Kaluma E, Bassey IA, Sow S, Keita AM, Tapia MD, Mehta A, Kotloff KL, Rahman A, Islam KM, Alam M, El Arifeen S, Gurley ES, Baillie V, Mutevedzi P, Mahtab S, Thwala BN, Tippett Barr BA, Onyango D, Akelo V, Rogena E, Onyango P, Omore R, Mandomando I, Ajanovic S, Varo R, Sitoe A, Duran-Frigola M, Assefa N, Scott JAG, Madrid L, Tesfaye T, Dessie Y, Madewell ZJ, Breiman RF, Whitney CG, Madhi SA; Child Health and Mortality Prevention Surveillance (CHAMPS) Network
JAMA Netw Open 2023 Jul 3;6(7):e2322494. doi: 10.1001/jamanetworkopen.2023.22494. PMID: 37494044Free PMC Article
GBD 2017 HIV collaborators
Lancet HIV 2019 Dec;6(12):e831-e859. Epub 2019 Aug 19 doi: 10.1016/S2352-3018(19)30196-1. PMID: 31439534Free PMC Article
Mazza JM, Lin SY
Int Forum Allergy Rhinol 2016 Oct;6(10):1029-1033. Epub 2016 May 17 doi: 10.1002/alr.21789. PMID: 27187624
Lal S, Mertens TE
Indian J Public Health 1995 Jul-Sep;39(3):77-8. PMID: 8690495
Rosenfield AG
J Reprod Med 1994 May;39(5):337-42. PMID: 8064700

Clinical prediction guides

Milito C, Pulvirenti F, Garzi G, Sculco E, Cinetto F, Firinu D, Lagnese G, Punziano A, Discardi C, Costanzo G, Felice C, Spadaro G, Ferrari S, Quinti I
Front Immunol 2023;14:1231242. Epub 2023 Oct 6 doi: 10.3389/fimmu.2023.1231242. PMID: 37868983Free PMC Article
Ben Khaled M, Merdassi A, Rekaya S, Fraj IB, Lamouchi T, Zaiter I, Kouki R, Bejaoui M, Mellouli F, Ouederni M
Clin Rheumatol 2023 Nov;42(11):3123-3129. Epub 2023 Jul 28 doi: 10.1007/s10067-023-06722-5. PMID: 37505303
Hansen AT, Söderström A, Jørgensen CS, Larsen CS, Petersen MS, Bernth Jensen JM
Front Immunol 2021;12:717873. Epub 2021 Sep 30 doi: 10.3389/fimmu.2021.717873. PMID: 34659207Free PMC Article
Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM
J Allergy Clin Immunol 2021 Feb;147(2):704-712.e17. Epub 2020 Aug 1 doi: 10.1016/j.jaci.2020.07.021. PMID: 32745555
Laila U, Akram M, Shariati MA, Hashmi AM, Akhtar N, Tahir IM, Ghauri AO, Munir N, Riaz M, Akhter N, Shaheen G, Ullah Q, Zahid R, Ahmad S
Clin Exp Pharmacol Physiol 2019 Dec;46(12):1063-1073. Epub 2019 Aug 22 doi: 10.1111/1440-1681.13151. PMID: 31365763

Recent systematic reviews

Wang W, Zhao S, Wu Y, Duan W, Li S, Li Z, Guo C, Wang W, Zhang T, Wu H, Huang X
JMIR Public Health Surveill 2023 Jul 27;9:e46767. doi: 10.2196/46767. PMID: 37498645Free PMC Article
Clarke MA, Deshmukh AA, Suk R, Roberts J, Gilson R, Jay N, Stier EA, Wentzensen N
Int J Cancer 2022 Dec 1;151(11):1889-1901. Epub 2022 Aug 6 doi: 10.1002/ijc.34199. PMID: 35793241Free PMC Article
Senécal J, Smyth E, Del Corpo O, Hsu JM, Amar-Zifkin A, Bergeron A, Cheng MP, Butler-Laporte G, McDonald EG, Lee TC
Clin Microbiol Infect 2022 Jan;28(1):23-30. Epub 2021 Aug 28 doi: 10.1016/j.cmi.2021.08.017. PMID: 34464734
Sultana ZZ, Hoque FU, Beyene J, Akhlak-Ul-Islam M, Khan MHR, Ahmed S, Hawlader DH, Hossain A
BMC Infect Dis 2021 Jan 11;21(1):51. doi: 10.1186/s12879-020-05749-2. PMID: 33430786Free PMC Article
Fonner VA, Dalglish SL, Kennedy CE, Baggaley R, O'Reilly KR, Koechlin FM, Rodolph M, Hodges-Mameletzis I, Grant RM
AIDS 2016 Jul 31;30(12):1973-83. doi: 10.1097/QAD.0000000000001145. PMID: 27149090Free PMC Article

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