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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.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Cellulitis
MedGen UID:
40174
Concept ID:
C0007642
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
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.
Chronic obstructive pulmonary disease
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).
Cutaneous abscess
MedGen UID:
450991
Concept ID:
C0149777
Pathologic Function
A circumscribed area of pus or necrotic debris in the skin.
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.
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.

Professional guidelines

PubMed

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

Therapy

Baumeister A, Aldin A, Chakraverty D, Hübner C, Adams A, Monsef I, Skoetz N, Kalbe E, Woopen C
Cochrane Database Syst Rev 2023 Nov 14;11(11):CD013303. doi: 10.1002/14651858.CD013303.pub2. PMID: 37963101Free PMC Article
Pasqualotto AC, Lana DD, Godoy CSM, Leitão TDMJS, Bay MB, Damasceno LS, Soares RBA, Kist R, Silva LR, Wiltgen D, Melo M, Guimarães TF, Guimarães MR, Vechi HT, de Mesquita JRL, Monteiro GRG, Adenis A, Bahr NC, Spec A, Boulware DR, Israelski D, Chiller T, Falci DR
Clin Infect Dis 2023 Oct 13;77(8):1126-1132. doi: 10.1093/cid/ciad313. PMID: 37232940Free PMC Article
García-Blanco D, Gravier-Hernández R, Rabeiro-Martínez CL, Gil Del Valle L, Pérez-Ávila J
MEDICC Rev 2019 Apr-Jul;21(2-3):59-68. doi: 10.37757/MR2019.V21.N2-3.11. PMID: 31401638
Wedi B
Drugs Today (Barc) 2019 Jul;55(7):439-448. doi: 10.1358/dot.2019.55.7.2985293. PMID: 31347612
Zeppa P, Cozzolino I
Monogr Clin Cytol 2018;23:77-80. Epub 2017 Nov 13 doi: 10.1159/000478883. PMID: 29131000

Prognosis

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
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
Orenstein R
Mayo Clin Proc 2002 Oct;77(10):1093-102; quiz 1102. doi: 10.4065/77.10.1097. PMID: 12374253
Ayala AR, Basaria S, Roberts KE, Cooper DS
Postgrad Med J 2001 May;77(907):336. doi: 10.1136/pmj.77.907.336. PMID: 11320281Free PMC Article
Lal S, Mertens TE
Indian J Public Health 1995 Jul-Sep;39(3):77-8. PMID: 8690495

Clinical prediction guides

Chen Z, He K, Chen Y, Zhang X, Ye Z, Xie C, Luo T, Fu X, Shi W, Zhang Z, Cao L, Li Y
BMC Public Health 2024 May 28;24(1):1429. doi: 10.1186/s12889-024-18174-w. PMID: 38807089Free PMC Article
Mousavi ME, Nejad SM, Shafaati M, Mykyta-Chomsky R, Akbarpour S, Hadavandsiri F
AIDS Res Ther 2023 Nov 11;20(1):78. doi: 10.1186/s12981-023-00579-z. PMID: 37951932Free PMC Article
Bakeman R
Am Psychol 2022 Feb-Mar;77(2):310. Epub 2021 Dec 23 doi: 10.1037/amp0000907. PMID: 34941312
Karakoc Aydiner E, Bilgic Eltan S, Babayeva R, Aydiner O, Kepenekli E, Kolukisa B, Sefer AP, Yalcin Gungoren E, Karabiber E, Yucel EO, Ozdemir O, Kiykim A, Artac H, Yakici N, Yalcin K, Cokugras H, Celkan TT, Orhan F, Yesilipek MA, Baris S, Ozen A
Allergy 2022 Jan;77(1):282-295. Epub 2021 Aug 10 doi: 10.1111/all.15025. PMID: 34314546Free PMC Article
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

Recent systematic reviews

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
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
Zhou T, Guan H, Wang L, Zhang Y, Rui M, Ma A
Front Public Health 2021;9:675523. Epub 2021 Jun 29 doi: 10.3389/fpubh.2021.675523. PMID: 34268287Free PMC Article
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
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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