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Immunodeficiency 77(IMD77)

MedGen UID:
1788976
•Concept ID:
C5543173
•
Disease or Syndrome
Synonyms: IMD77; IMMUNODEFICIENCY 77
 
Gene (location): MPEG1 (11q12.1)
 
Monarch Initiative: MONDO:0030973
OMIM®: 619223

Definition

Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus. Treatment with gamma-IFN (IFNG; 147570) may be a therapeutic option (summary by McCormack et al., 2017 and Merselis et al., 2020). [from OMIM]

Clinical features

From HPO
Gastroparesis
MedGen UID:
101809
•Concept ID:
C0152020
•
Disease or Syndrome
Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
See: Feature record | Search on this feature
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Cellulitis
MedGen UID:
40174
•Concept ID:
C0007642
•
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
See: Feature record | Search on this feature
Bronchiectasis
MedGen UID:
14234
•Concept ID:
C0006267
•
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
See: Feature record | Search on this feature
Chronic pulmonary obstruction
MedGen UID:
9818
•Concept ID:
C0024117
•
Disease or Syndrome
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).
See: Feature record | Search on this feature
Cutaneous abscess
MedGen UID:
450991
•Concept ID:
C0149777
•
Pathologic Function
A circumscribed area of pus or necrotic debris in the skin.
See: Feature record | Search on this feature
Recurrent tonsillitis
MedGen UID:
1781351
•Concept ID:
C0740402
•
Disease or Syndrome
Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.
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Nontuberculous mycobacterial pulmonary infection
MedGen UID:
1700174
•Concept ID:
C5139228
•
Disease or Syndrome
An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Growth response to antiretroviral treatment in HIV-infected children: a cohort study from Lilongwe, Malawi.
Weigel R, Phiri S, Chiputula F, Gumulira J, Brinkhof M, Gsponer T, Tweya H, Egger M, Keiser O
Trop Med Int Health 2010 Aug;15(8):934-44. Epub 2010 Jun 15 doi: 10.1111/j.1365-3156.2010.02561.x. PMID: 20561308Free PMC Article

Recent clinical studies

Etiology

John Lamont Peterson (1949-2021).
Bakeman R
Am Psychol 2022 Feb-Mar;77(2):310. Epub 2021 Dec 23 doi: 10.1037/amp0000907. PMID: 34941312
Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity.
Asgardoon MH, Azizi G, Yazdani R, Sohani M, Pashangzadeh S, Kalantari A, Shariat M, Shafiei A, Salami F, Jamee M, Rasouli SE, Mohammadi J, Hassanpour G, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, Behniafard N, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Shirkani A, Alyasin S, Jabbari-Azad F, Ghaffari J, Mesdaghi M, Ahanchian H, Khoshkhui M, Eslamian MH, Cheraghi T, Dabbaghzadeh A, Nasiri Kalmarzi R, Esmaeilzadeh H, Tafaroji J, Khalili A, Sadeghi-Shabestari M, Darougar S, Moghtaderi M, Ahmadiafshar A, Shakerian B, Heidarzadeh M, Ghalebaghi B, Fathi SM, Darabi B, Fallahpour M, Mohsenzadeh A, Ebrahimi S, Sharafian S, Vosughimotlagh A, Tafakoridelbari M, Rahimi Haji-Abadi M, Ashournia P, Razaghian A, Rezaei A, Delavari S, Shirmast P, Babaha F, Samavat A, Mamishi S, Khazaei HA, Negahdari B, Rezaei N, Abolhassani H, Aghamohammadi A
Int Arch Allergy Immunol 2020;181(9):706-714. Epub 2020 Jul 2 doi: 10.1159/000508817. PMID: 32615565
Omenn Syndrome Identified by Newborn Screening.
Tallar M, Routes J
Clin Perinatol 2020 Mar;47(1):77-86. Epub 2019 Sep 27 doi: 10.1016/j.clp.2019.09.004. PMID: 32000930
Consanguinity and primary immunodeficiencies.
Al-Herz W, Aldhekri H, Barbouche MR, Rezaei N
Hum Hered 2014;77(1-4):138-43. Epub 2014 Jul 29 doi: 10.1159/000357710. PMID: 25060276
The EUROclass trial: defining subgroups in common variable immunodeficiency.
Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, Vlkova M, Hernandez M, Detkova D, Bos PR, Poerksen G, von Bernuth H, Baumann U, Goldacker S, Gutenberger S, Schlesier M, Bergeron-van der Cruyssen F, Le Garff M, Debré P, Jacobs R, Jones J, Bateman E, Litzman J, van Hagen PM, Plebani A, Schmidt RE, Thon V, Quinti I, Espanol T, Webster AD, Chapel H, Vihinen M, Oksenhendler E, Peter HH, Warnatz K
Blood 2008 Jan 1;111(1):77-85. Epub 2007 Sep 26 doi: 10.1182/blood-2007-06-091744. PMID: 17898316

Diagnosis

Omenn Syndrome Identified by Newborn Screening.
Tallar M, Routes J
Clin Perinatol 2020 Mar;47(1):77-86. Epub 2019 Sep 27 doi: 10.1016/j.clp.2019.09.004. PMID: 32000930
Immunodeficiency-Associated Lymphoproliferative Disorders.
Zeppa P, Cozzolino I
Monogr Clin Cytol 2018;23:77-80. Epub 2017 Nov 13 doi: 10.1159/000478883. PMID: 29131000
Consanguinity and primary immunodeficiencies.
Al-Herz W, Aldhekri H, Barbouche MR, Rezaei N
Hum Hered 2014;77(1-4):138-43. Epub 2014 Jul 29 doi: 10.1159/000357710. PMID: 25060276
The EUROclass trial: defining subgroups in common variable immunodeficiency.
Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, Vlkova M, Hernandez M, Detkova D, Bos PR, Poerksen G, von Bernuth H, Baumann U, Goldacker S, Gutenberger S, Schlesier M, Bergeron-van der Cruyssen F, Le Garff M, Debré P, Jacobs R, Jones J, Bateman E, Litzman J, van Hagen PM, Plebani A, Schmidt RE, Thon V, Quinti I, Espanol T, Webster AD, Chapel H, Vihinen M, Oksenhendler E, Peter HH, Warnatz K
Blood 2008 Jan 1;111(1):77-85. Epub 2007 Sep 26 doi: 10.1182/blood-2007-06-091744. PMID: 17898316
Cryptococcosis.
Perfect JR
Infect Dis Clin North Am 1989 Mar;3(1):77-102. PMID: 2647836

Therapy

Lanadelumab to treat hereditary angioedema.
Wedi B
Drugs Today (Barc) 2019 Jul;55(7):439-448. doi: 10.1358/dot.2019.55.7.2985293. PMID: 31347612
Battling the HIV/AIDS Epidemic: Triumphs and Barriers.
McColl ER, Kojovic D, Piquette-Miller M
Clin Pharmacol Ther 2018 Dec;104(6):1042-1046. doi: 10.1002/cpt.1202. PMID: 30412658
Immunodeficiency-Associated Lymphoproliferative Disorders.
Zeppa P, Cozzolino I
Monogr Clin Cytol 2018;23:77-80. Epub 2017 Nov 13 doi: 10.1159/000478883. PMID: 29131000
The EUROclass trial: defining subgroups in common variable immunodeficiency.
Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, Vlkova M, Hernandez M, Detkova D, Bos PR, Poerksen G, von Bernuth H, Baumann U, Goldacker S, Gutenberger S, Schlesier M, Bergeron-van der Cruyssen F, Le Garff M, Debré P, Jacobs R, Jones J, Bateman E, Litzman J, van Hagen PM, Plebani A, Schmidt RE, Thon V, Quinti I, Espanol T, Webster AD, Chapel H, Vihinen M, Oksenhendler E, Peter HH, Warnatz K
Blood 2008 Jan 1;111(1):77-85. Epub 2007 Sep 26 doi: 10.1182/blood-2007-06-091744. PMID: 17898316
Cryptococcosis.
Perfect JR
Infect Dis Clin North Am 1989 Mar;3(1):77-102. PMID: 2647836

Prognosis

Acute kidney injury in HIV-infected patients: a critical review.
Gameiro J, Agapito Fonseca J, Jorge S, Lopes JA
HIV Med 2019 Feb;20(2):77-87. Epub 2018 Nov 8 doi: 10.1111/hiv.12685. PMID: 30411475
Global Burden of Atherosclerotic Cardiovascular Disease in People Living With HIV: Systematic Review and Meta-Analysis.
Shah ASV, Stelzle D, Lee KK, Beck EJ, Alam S, Clifford S, Longenecker CT, Strachan F, Bagchi S, Whiteley W, Rajagopalan S, Kottilil S, Nair H, Newby DE, McAllister DA, Mills NL
Circulation 2018 Sep 11;138(11):1100-1112. doi: 10.1161/CIRCULATIONAHA.117.033369. PMID: 29967196Free PMC Article
The burden of sepsis in critically ill human immunodeficiency virus-infected patients--a brief review.
Moreira J
Braz J Infect Dis 2015 Jan-Feb;19(1):77-81. Epub 2014 Jul 9 doi: 10.1016/j.bjid.2014.05.010. PMID: 25022567Free PMC Article
Frequency and implications of HIV superinfection.
Redd AD, Quinn TC, Tobian AA
Lancet Infect Dis 2013 Jul;13(7):622-8. Epub 2013 May 31 doi: 10.1016/S1473-3099(13)70066-5. PMID: 23726798Free PMC Article
HIV and tuberculosis in India.
Swaminathan S, Nagendran G
J Biosci 2008 Nov;33(4):527-37. doi: 10.1007/s12038-008-0071-2. PMID: 19208978

Clinical prediction guides

Ageing with HIV: Challenges and biomarkers.
Rodés B, Cadiñanos J, Esteban-Cantos A, Rodríguez-Centeno J, Arribas JR
EBioMedicine 2022 Mar;77:103896. Epub 2022 Feb 25 doi: 10.1016/j.ebiom.2022.103896. PMID: 35228014Free PMC Article
John Lamont Peterson (1949-2021).
Bakeman R
Am Psychol 2022 Feb-Mar;77(2):310. Epub 2021 Dec 23 doi: 10.1037/amp0000907. PMID: 34941312
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
Primary Immunodeficiencies in Russia: Data From the National Registry.
Mukhina AA, Kuzmenko NB, Rodina YA, Kondratenko IV, Bologov AA, Latysheva TV, Prodeus AP, Pampura AN, Balashov DN, Ilyina NI, Latysheva EA, Deordieva EA, Shvets OA, Deripapa EV, Abramova IN, Pashenko OE, Vahlyarskaya SS, Zinovyeva NV, Zimin SB, Skorobogatova EV, Machneva EB, Fomina DS, Ipatova MG, Barycheva LY, Khachirova LS, Tuzankina IA, Bolkov MA, Shakhova NV, Kamaltynova EM, Sibgatullina FI, Guseva MN, Kuznetsova RN, Milichkina AM, Totolian AA, Kalinina NM, Goltsman EA, Sulima EI, Kutlyanceva AY, Moiseeva AA, Khoreva AL, Nesterenko Z, Tymofeeva EV, Ermakova A, Proligina DD, Kalmetieva LR, Davletbaieva GA, Mirsayapova IA, Richkova OA, Kuzmicheva KP, Grakhova MA, Yudina NB, Orlova EA, Selezneva OS, Piskunova SG, Samofalova TV, Bukina TV, Pechkurova AD, Migacheva N, Zhestkov A, Barmina EV, Parfenova NA, Isakova SN, Averina EV, Sazonova IV, Starikova SY, Shilova TV, Asekretova TV, Suprun RN, Kleshchenko EI, Lebedev VV, Demikhova EV, Demikhov VG, Kalinkina VA, Gorenkova AV, Duryagina SN, Pavlova TB, Shinkareva VM, Smoleva IV, Aleksandrova TP, Bambaeva ZV, Philippova MA, Gracheva EM, Tcyvkina GI, Efremenkov AV, Mashkovskaya D, Yarovaya IV, Alekseenko VA, Fisyun IV, Molokova GV, Troitskya EV, Piatkina LI, Vlasova EV, Ukhanova O, Chernishova EG, Vasilieva M, Laba OM, Volodina E, Safonova EV, Voronin KA, Gurkina MV, Rumyantsev AG, Novichkova GA, Shcherbina AY
Front Immunol 2020;11:1491. Epub 2020 Aug 6 doi: 10.3389/fimmu.2020.01491. PMID: 32849507Free PMC Article
AIDS and the gut.
Weller IV
Scand J Gastroenterol Suppl 1985;114:77-89. doi: 10.3109/00365528509093769. PMID: 3003885

Recent systematic reviews

Oral pre-exposure prophylaxis (PrEP) to prevent HIV: a systematic review and meta-analysis of clinical effectiveness, safety, adherence and risk compensation in all populations.
O Murchu E, Marshall L, Teljeur C, Harrington P, Hayes C, Moran P, Ryan M
BMJ Open 2022 May 11;12(5):e048478. doi: 10.1136/bmjopen-2020-048478. PMID: 35545381Free PMC Article
Outcomes of patients with HIV and COVID-19 co-infection: a systematic review and meta-analysis.
Danwang C, Noubiap JJ, Robert A, Yombi JC
AIDS Res Ther 2022 Jan 14;19(1):3. doi: 10.1186/s12981-021-00427-y. PMID: 35031068Free PMC Article
Tuberculosis Treatment Outcome and Predictors in Africa: A Systematic Review and Meta-Analysis.
Teferi MY, El-Khatib Z, Boltena MT, Andualem AT, Asamoah BO, Biru M, Adane HT
Int J Environ Res Public Health 2021 Oct 12;18(20) doi: 10.3390/ijerph182010678. PMID: 34682420Free PMC Article
Global and regional molecular epidemiology of HIV-1, 1990-2015: a systematic review, global survey, and trend analysis.
Hemelaar J, Elangovan R, Yun J, Dickson-Tetteh L, Fleminger I, Kirtley S, Williams B, Gouws-Williams E, Ghys PD; WHO–UNAIDS Network for HIV Isolation Characterisation
Lancet Infect Dis 2019 Feb;19(2):143-155. Epub 2018 Nov 30 doi: 10.1016/S1473-3099(18)30647-9. PMID: 30509777
Global Burden of Atherosclerotic Cardiovascular Disease in People Living With HIV: Systematic Review and Meta-Analysis.
Shah ASV, Stelzle D, Lee KK, Beck EJ, Alam S, Clifford S, Longenecker CT, Strachan F, Bagchi S, Whiteley W, Rajagopalan S, Kottilil S, Nair H, Newby DE, McAllister DA, Mills NL
Circulation 2018 Sep 11;138(11):1100-1112. doi: 10.1161/CIRCULATIONAHA.117.033369. PMID: 29967196Free PMC Article

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