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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

Extensive characterization of HIV-1 reservoirs reveals links to plasma viremia before and during analytical treatment interruption.
Cole B, Lambrechts L, Boyer Z, Noppe Y, De Scheerder MA, Eden JS, Vrancken B, Schlub TE, McLaughlin S, Frenkel LM, Palmer S, Vandekerckhove L
Cell Rep 2022 Apr 26;39(4):110739. doi: 10.1016/j.celrep.2022.110739. PMID: 35476994Free 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
Zidovudine treatment for AIDS.
Hopkins S
Nurs Times 1987 Sep 30-Oct 6;83(39):64-5. PMID: 3479753

Recent clinical studies

Etiology

Genetics of Pediatric Immune-Mediated Diseases and Human Immunity.
Schmitt EG, Cooper MA
Annu Rev Immunol 2021 Apr 26;39:227-249. Epub 2021 Feb 3 doi: 10.1146/annurev-immunol-093019-124513. PMID: 33534603
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Melanoma in children and adolescents.
Pappo AS
Eur J Cancer 2003 Dec;39(18):2651-61. doi: 10.1016/j.ejca.2003.06.001. PMID: 14642927
Neutropenia associated with primary immunodeficiency syndromes.
Cham B, Bonilla MA, Winkelstein J
Semin Hematol 2002 Apr;39(2):107-12. doi: 10.1053/shem.2002.31916. PMID: 11957193
Monoclonal gammopathies in children.
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

Diagnosis

Human immunodeficiency virus infection (HIV)-associated rheumatic manifestations in thepre- and post-HAART eras.
Vega LE, Espinoza LR
Clin Rheumatol 2020 Sep;39(9):2515-2522. Epub 2020 Apr 15 doi: 10.1007/s10067-020-05082-8. PMID: 32297034Free PMC Article
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
Gastrointestinal Manifestations and Complications of Primary Immunodeficiency Disorders.
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
Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases.
Youssef MJ, Chiu YE
Pediatr Clin North Am 2017 Feb;64(1):39-56. doi: 10.1016/j.pcl.2016.08.004. PMID: 27894451
Autoinflammatory bone diseases.
Stern SM, Ferguson PJ
Rheum Dis Clin North Am 2013 Nov;39(4):735-49. Epub 2013 Aug 17 doi: 10.1016/j.rdc.2013.05.002. PMID: 24182852Free PMC Article

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
Integrase Inhibitors: After 10 Years of Experience, Is the Best Yet to Come?
Brooks KM, Sherman EM, Egelund EF, Brotherton A, Durham S, Badowski ME, Cluck DB
Pharmacotherapy 2019 May;39(5):576-598. Epub 2019 Apr 1 doi: 10.1002/phar.2246. PMID: 30860610
Update on Advances in Hematopoietic Cell Transplantation for Primary Immunodeficiency Disorders.
Shamriz O, Chandrakasan S
Immunol Allergy Clin North Am 2019 Feb;39(1):113-128. Epub 2018 Nov 1 doi: 10.1016/j.iac.2018.08.003. PMID: 30466768
Use of cytokine therapy in primary immunodeficiency.
Roy-Ghanta S, Orange JS
Clin Rev Allergy Immunol 2010 Feb;38(1):39-53. doi: 10.1007/s12016-009-8131-4. PMID: 19449141
Melanoma in children and adolescents.
Pappo AS
Eur J Cancer 2003 Dec;39(18):2651-61. doi: 10.1016/j.ejca.2003.06.001. PMID: 14642927

Prognosis

Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
HIV and AIDS.
Verma N
P N G Med J 1996 Sep;39(3):163. PMID: 9795555
HIV and AIDS.
Lal S, Mertens TE
Indian J Public Health 1995 Jul-Sep;39(3):77-8. PMID: 8690495
Reproductive health. An ethical perspective.
Rosenfield AG
J Reprod Med 1994 May;39(5):337-42. PMID: 8064700
Monoclonal gammopathies in children.
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

Clinical prediction guides

Latent Tuberculosis among Human Immunodeficiency Virus (HIV) Positive Patients: Prevalence and Correlates.
Ajayi BD, Ogunkoya JO, Onunu A, Okwara B, Ehondor O, Ajayi FO
West Afr J Med 2022 Jul 31;39(7):670-677. PMID: 35924817
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.
Hadjadj J, Guffroy A, Delavaud C, Taieb G, Meyts I, Fresard A, Streichenberger N, L'Honneur AS, Rozenberg F, D'Aveni M, Aguilar C, Rosain J, Picard C, Mahlaoui N, Lecuit M, Hermine O, Lortholary O, Suarez F
J Clin Immunol 2019 Jan;39(1):55-64. Epub 2018 Dec 14 doi: 10.1007/s10875-018-0578-8. PMID: 30552536
Secondary Hypogammaglobulinemia: An Increasingly Recognized Complication of Treatment with Immunomodulators and After Solid Organ Transplantation.
Kaplan B, Bonagura VR
Immunol Allergy Clin North Am 2019 Feb;39(1):31-47. doi: 10.1016/j.iac.2018.08.005. PMID: 30466771
Evidence of innate lymphoid cell redundancy in humans.
Vély F, Barlogis V, Vallentin B, Neven B, Piperoglou C, Ebbo M, Perchet T, Petit M, Yessaad N, Touzot F, Bruneau J, Mahlaoui N, Zucchini N, Farnarier C, Michel G, Moshous D, Blanche S, Dujardin A, Spits H, Distler JH, Ramming A, Picard C, Golub R, Fischer A, Vivier E
Nat Immunol 2016 Nov;17(11):1291-1299. Epub 2016 Sep 12 doi: 10.1038/ni.3553. PMID: 27618553Free PMC Article
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130

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
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
Aetiology of bronchiectasis in adults: A systematic literature review.
Gao YH, Guan WJ, Liu SX, Wang L, Cui JJ, Chen RC, Zhang GJ
Respirology 2016 Nov;21(8):1376-1383. Epub 2016 Jun 19 doi: 10.1111/resp.12832. PMID: 27321896
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
Novel interventions for HIV self-management in African American women: a systematic review of mHealth interventions.
Tufts KA, Johnson KF, Shepherd JG, Lee JY, Bait Ajzoon MS, Mahan LB, Kim MT
J Assoc Nurses AIDS Care 2015 Mar-Apr;26(2):139-50. Epub 2014 Aug 8 doi: 10.1016/j.jana.2014.08.002. PMID: 25283352

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