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Immunodeficiency 53(IMD53)

MedGen UID:
1612104
•Concept ID:
C4539811
•
Disease or Syndrome
Synonyms: IMD53; IMMUNODEFICIENCY 53
 
Gene (location): RELB (19q13.32)
 
Monarch Initiative: MONDO:0054696
OMIM®: 617585

Clinical features

From HPO
Recurrent urinary tract infections
MedGen UID:
120466
•Concept ID:
C0262655
•
Disease or Syndrome
Repeated infections of the urinary tract.
See: Feature record | Search on this feature
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Chronic cough
MedGen UID:
507601
•Concept ID:
C0010201
•
Sign or Symptom
A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.
See: Feature record | Search on this feature
Recurrent upper respiratory tract infections
MedGen UID:
154380
•Concept ID:
C0581381
•
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
See: Feature record | Search on this feature
Recurrent pneumonia
MedGen UID:
195802
•Concept ID:
C0694550
•
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
See: Feature record | Search on this feature
Asthma
MedGen UID:
2109
•Concept ID:
C0004096
•
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
See: Feature record | Search on this feature
Neutrophilia
MedGen UID:
57729
•Concept ID:
C0151683
•
Finding
Increased number of neutrophils circulating in blood.
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
Impaired lymphocyte transformation with phytohemagglutinin
MedGen UID:
871152
•Concept ID:
C4025625
•
Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
See: Feature record | Search on this feature
Skin rash
MedGen UID:
1830322
•Concept ID:
C5779628
•
Sign or Symptom
A red eruption of the skin.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diagnosis and Treatment of Sexually Transmitted Infections: A Review.
Tuddenham S, Hamill MM, Ghanem KG
JAMA 2022 Jan 11;327(2):161-172. doi: 10.1001/jama.2021.23487. PMID: 35015033
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
Nature 2020 Jul;583(7814):90-95. Epub 2020 May 6 doi: 10.1038/s41586-020-2265-1. PMID: 32499645Free PMC Article
Laceration Management.
Mankowitz SL
J Emerg Med 2017 Sep;53(3):369-382. Epub 2017 Aug 25 doi: 10.1016/j.jemermed.2017.05.026. PMID: 28847677

Recent clinical studies

Etiology

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group
Lancet Haematol 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. PMID: 38302222
Immunological Evaluation of Pediatric Patients with Polyautoimmunity.
Mahdavi FS, Tavakol M, Aghamahdi F, Sadri H, Chavoshzadeh Z, Jamee M, Noorian S, Alaei MR, Ashkevari P, Anaya JM, Abolhassani H, Ochs HD, Azizi G
Endocr Metab Immune Disord Drug Targets 2024;24(7):798-807. doi: 10.2174/1871530323666230912124951. PMID: 37702233
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Nanotechnology and the future of condoms in the prevention of sexually transmitted infections.
Yah CS, Simate GS, Hlangothi P, Somai BM
Ann Afr Med 2018 Apr-Jun;17(2):49-57. doi: 10.4103/aam.aam_32_17. PMID: 29536957Free PMC Article
Acquired immunodeficiency syndrome.
Rolston KV, Bodey GP
Semin Surg Oncol 1986;2(2):53-71. doi: 10.1002/ssu.2980020202. PMID: 3331210

Diagnosis

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group
Lancet Haematol 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. PMID: 38302222
Neurological involvement in patients with primary immunodeficiency.
Kose H, Karali Z, Bodur M, Cekic S, Kilic SS
Allergol Immunopathol (Madr) 2024;52(1):85-92. Epub 2024 Jan 1 doi: 10.15586/aei.v52i1.961. PMID: 38186198
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Pneumocystis carinii pneumonia.
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Therapy

Excess mortality attributable to AIDS among people living with HIV in high-income countries: a systematic review and meta-analysis.
Trickey A, Ambia J, Glaubius R, van Schalkwyk C, Imai-Eaton JW, Korenromp EL, Johnson LF
J Int AIDS Soc 2024 Nov;27(11):e26384. doi: 10.1002/jia2.26384. PMID: 39496514Free PMC Article
The effectiveness of e-health on reducing stigma, improving social support and quality of life among people living with HIV: A systematic review and meta-analysis of randomized controlled trials.
Zhang L, Ni Z, Liu Y, Chen H
Int J Nurs Stud 2023 Dec;148:104606. Epub 2023 Sep 17 doi: 10.1016/j.ijnurstu.2023.104606. PMID: 37801937
Utilisation of immunoglobulin in New Zealand.
Mishra S, Flanagan P, Frampton C
Intern Med J 2023 Jun;53(6):1032-1041. Epub 2022 Aug 31 doi: 10.1111/imj.15694. PMID: 35049107
Immunogenetic surveillance of HIV/AIDS.
Stephens HA
Infect Genet Evol 2012 Oct;12(7):1481-91. Epub 2012 May 7 doi: 10.1016/j.meegid.2012.04.011. PMID: 22575339
Pneumocystis carinii pneumonia.
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Prognosis

Causes of Death Among Infants and Children in the Child Health and Mortality Prevention Surveillance (CHAMPS) Network.
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
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Impact of HIV on spontaneous spondylodiscitis.
Dunn RN, Castelein S, Held M
Bone Joint J 2019 May;101-B(5):617-620. doi: 10.1302/0301-620X.101B5.BJJ-2018-0960.R1. PMID: 31039039
Severe viral infections and primary immunodeficiencies.
Dropulic LK, Cohen JI
Clin Infect Dis 2011 Nov;53(9):897-909. Epub 2011 Sep 29 doi: 10.1093/cid/cir610. PMID: 21960712Free PMC Article
Adult immunodeficiency and rheumatic disease.
Itescu S
Rheum Dis Clin North Am 1996 Feb;22(1):53-73. doi: 10.1016/s0889-857x(05)70262-3. PMID: 8907065

Clinical prediction guides

Cost-effectiveness of interventions for HIV/AIDS, malaria, syphilis, and tuberculosis in 128 countries: a meta-regression analysis.
Silke F, Earl L, Hsu J, Janko MM, Joffe J, Memetova A, Michael D, Zheng P, Aravkin A, Murray CJL, Weaver MR
Lancet Glob Health 2024 Jul;12(7):e1159-e1173. doi: 10.1016/S2214-109X(24)00181-5. PMID: 38876762Free PMC Article
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
The social capital effect on HIV/AIDS preventive efforts: a meta-analysis.
Nugraheni R, Murti B, Irawanto ME, Sulaiman ES, Pamungkasari EP
J Med Life 2022 Oct;15(10):1212-1217. doi: 10.25122/jml-2021-0348. PMID: 36420290Free PMC Article
Contribution of Sex Differences to HIV Immunology, Pathogenesis, and Cure Approaches.
Moran JA, Turner SR, Marsden MD
Front Immunol 2022;13:905773. Epub 2022 May 25 doi: 10.3389/fimmu.2022.905773. PMID: 35693831Free PMC Article
AIDS in Haiti.
Johnson WD Jr, Pape JW
Immunol Ser 1989;44:65-78. PMID: 2489126

Recent systematic reviews

Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.
Zhu Y, Liu K, Wang K, Zhu H
Cancer 2023 Jan 15;129(2):283-295. Epub 2022 Nov 21 doi: 10.1002/cncr.34507. PMID: 36408673Free PMC Article
Xpert MTB/RIF Ultra assay for tuberculosis disease and rifampicin resistance in children.
Kay AW, Ness T, Verkuijl SE, Viney K, Brands A, Masini T, González Fernández L, Eisenhut M, Detjen AK, Mandalakas AM, Steingart KR, Takwoingi Y
Cochrane Database Syst Rev 2022 Sep 6;9(9):CD013359. doi: 10.1002/14651858.CD013359.pub3. PMID: 36065889Free PMC Article
Global morbidity and mortality of central nervous system tuberculosis: a systematic review and meta-analysis.
Navarro-Flores A, Fernandez-Chinguel JE, Pacheco-Barrios N, Soriano-Moreno DR, Pacheco-Barrios K
J Neurol 2022 Jul;269(7):3482-3494. Epub 2022 Mar 15 doi: 10.1007/s00415-022-11052-8. PMID: 35288778Free 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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