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Immunodeficiency 39(IMD39)

MedGen UID:
904167
•Concept ID:
C4225358
•
Disease or Syndrome
Synonym: IMD39
 
Gene (location): IRF7 (11p15.5)
 
Monarch Initiative: MONDO:0014597
OMIM®: 616345

Definition

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. [from MONDO]

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.
See: Feature record | Search on this feature
Severe influenza infection
MedGen UID:
1814393
•Concept ID:
C5676829
•
Disease or Syndrome
An unusually severe infection by an influenza virus.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Screening Adolescents for Sensitive Health Topics in Primary Care: A Scoping Review.
Davis M, Hoskins K, Phan M, Hoffacker C, Reilly M, Fugo PB, Young JF, Beidas RS
J Adolesc Health 2022 May;70(5):706-713. Epub 2021 Dec 23 doi: 10.1016/j.jadohealth.2021.10.028. PMID: 34955356Free PMC Article
Optimizing Treatment for Adults with HIV/AIDS in China: Successes over Two Decades and Remaining Challenges.
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
Diagnosis and Management of Primary Immunodeficiency Disorders: The Pieces of the Puzzle Are Starting to Fit Together.
Tilles SA
Immunol Allergy Clin North Am 2019 Feb;39(1):ix-x. doi: 10.1016/j.iac.2018.09.002. PMID: 30466776

Recent clinical studies

Etiology

Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency.
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Neurocognitive Disorders in HIV-positive Patients.
Padole PS, Padhiyar RN, Yadav DS, Chavan SA
J Assoc Physicians India 2023 Jun;71(6):11-12. doi: 10.5005/japi-11001-0272. PMID: 37355842
Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab.
Nihal A, Comstock JR, Holland KE, Singh AM, Seroogy CM, Arkin LM
Pediatr Dermatol 2022 Nov;39(6):940-942. Epub 2022 Jun 22 doi: 10.1111/pde.15072. PMID: 35734823Free PMC Article
Molecular Diagnosis of Inherited Immune Disorders.
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
Primary immunodeficiency and recalcitrant chronic sinusitis: a systematic review.
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

Diagnosis

Surgical implications of HIV infection.
Millar AJW, Cox SG
Pediatr Surg Int 2022 Dec 8;39(1):39. doi: 10.1007/s00383-022-05333-6. PMID: 36482099
Infectious RNA: Human Immunodeficiency Virus (HIV) Biology, Therapeutic Intervention, and the Quest for a Vaccine.
van Heuvel Y, Schatz S, Rosengarten JF, Stitz J
Toxins (Basel) 2022 Feb 14;14(2) doi: 10.3390/toxins14020138. PMID: 35202165Free PMC Article
Molecular Diagnosis of Inherited Immune Disorders.
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
Primary Immunodeficiency Disorders.
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
Diagnosis and Management of Primary Immunodeficiency Disorders: The Pieces of the Puzzle Are Starting to Fit Together.
Tilles SA
Immunol Allergy Clin North Am 2019 Feb;39(1):ix-x. doi: 10.1016/j.iac.2018.09.002. PMID: 30466776

Therapy

Infectious RNA: Human Immunodeficiency Virus (HIV) Biology, Therapeutic Intervention, and the Quest for a Vaccine.
van Heuvel Y, Schatz S, Rosengarten JF, Stitz J
Toxins (Basel) 2022 Feb 14;14(2) doi: 10.3390/toxins14020138. PMID: 35202165Free PMC Article
Successful Rituximab Treatment for Lymphoma, Secondary Immunodeficiency Causing Debilitating Sinusitis: Underlying Primary Immunodeficiency Disease, and Alternative Treatments to Improve the Quality of Life?
Bonagura VR
J Clin Immunol 2019 Apr;39(3):229-230. Epub 2019 May 17 doi: 10.1007/s10875-019-00636-1. PMID: 31102034
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C
Blood 2017 Nov 23;130(21):2307-2316. Epub 2017 Sep 29 doi: 10.1182/blood-2017-08-801191. PMID: 28972011Free PMC Article
School-based interventions for preventing HIV, sexually transmitted infections, and pregnancy in adolescents.
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
Primary Immunodeficiencies with Elevated IgE.
Mogensen TH
Int Rev Immunol 2016;35(1):39-56. Epub 2015 May 13 doi: 10.3109/08830185.2015.1027820. PMID: 25970001

Prognosis

Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency.
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
HIV infections and AIDS in Poland in 2020.
Niedźwiedzka-Stadnik M, Nowakowska-Radziwonka E, Marzec-Bogusławska A
Przegl Epidemiol 2022;76(3):402-420. doi: 10.32394/pe.76.38. PMID: 36524902
Global, regional, and national incidence, prevalence, and mortality of HIV, 1980-2017, and forecasts to 2030, for 195 countries and territories: a systematic analysis for the Global Burden of Diseases, Injuries, and Risk Factors Study 2017.
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
Primary immunodeficiency and recalcitrant chronic sinusitis: a systematic review.
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
Reproductive health. An ethical perspective.
Rosenfield AG
J Reprod Med 1994 May;39(5):337-42. PMID: 8064700

Clinical prediction guides

Clinical features and predictors of osteoarticular manifestations in common variable immunodeficiency.
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
ABO blood groups and risk of human immunodeficiency virus infection: A systematic review and meta-analysis.
Noori M, Shokri P, Nejadghaderi SA, Golmohammadi S, Carson-Chahhoud K, Bragazzi NL, Ansarin K, Kolahi AA, Arshi S, Safiri S
Rev Med Virol 2022 May;32(3):e2298. Epub 2021 Sep 30 doi: 10.1002/rmv.2298. PMID: 34590759
Diagnostic Vaccination in Clinical Practice.
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
Role of medicinal plants in HIV/AIDS therapy.
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
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C
Blood 2017 Nov 23;130(21):2307-2316. Epub 2017 Sep 29 doi: 10.1182/blood-2017-08-801191. PMID: 28972011Free PMC Article

Recent systematic reviews

Safety and Efficacy of Long-Acting Injectable Agents for HIV-1: Systematic Review and Meta-Analysis.
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
A systematic review and meta-analysis of cytology and HPV-related biomarkers for anal cancer screening among different risk groups.
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
Non-invasive diagnosis of Pneumocystis jirovecii pneumonia: a systematic review and meta-analysis.
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
HIV infection and multidrug resistant tuberculosis: a systematic review and meta-analysis.
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
Effectiveness and safety of oral HIV preexposure prophylaxis for all populations.
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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