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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.
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.
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.
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).
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.
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.
Neutrophilia
MedGen UID:
57729
Concept ID:
C0151683
Finding
Increased number of neutrophils circulating in blood.
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.
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.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.

Professional guidelines

PubMed

Tuddenham S, Hamill MM, Ghanem KG
JAMA 2022 Jan 11;327(2):161-172. doi: 10.1001/jama.2021.23487. PMID: 35015033
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
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

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
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
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
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
Gayle HD, D'Angelo LJ
Pediatr Infect Dis J 1991 Apr;10(4):322-8. doi: 10.1097/00006454-199104000-00012. PMID: 2062630

Diagnosis

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
Chen J, Xu J, Zhou Y, Luo Y
Int J Environ Res Public Health 2022 Dec 16;19(24) doi: 10.3390/ijerph192416917. PMID: 36554798Free PMC Article
Croxford S, Stengaard AR, Brännström J, Combs L, Dedes N, Girardi E, Grabar S, Kirk O, Kuchukhidze G, Lazarus JV, Noori T, Pharris A, Raben D, Rockstroh JK, Simões D, Sullivan AK, Van Beckhoven D, Delpech VC; EuroTEST HIV Late Diagnosis Definition Working Group
HIV Med 2022 Dec;23(11):1202-1208. Epub 2022 Nov 8 doi: 10.1111/hiv.13425. PMID: 36347523Free PMC Article
Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F
J Med Genet 2016 Sep;53(9):575-90. Epub 2016 Jun 1 doi: 10.1136/jmedgenet-2015-103690. PMID: 27250108
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

Therapy

Zhang M, Hua L, Hong S, Sun X, Zhou Y, Luo Y, Liu L, Wang J, Wang C, Lin N, Li X
Int Immunopharmacol 2023 Sep;122:110553. Epub 2023 Jul 20 doi: 10.1016/j.intimp.2023.110553. PMID: 37480749
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
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
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
Graham BS
Annu Rev Med 2002;53:207-21. doi: 10.1146/annurev.med.53.082901.104035. PMID: 11818471

Prognosis

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
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
Lewis L, Kharsany ABM, Humphries H, Maughan-Brown B, Beckett S, Govender K, Cawood C, Khanyile D, George G
PLoS One 2022;17(12):e0279289. Epub 2022 Dec 21 doi: 10.1371/journal.pone.0279289. PMID: 36542645Free PMC Article
Al-Herz W, Al-Ahmad M, Al-Khabaz A, Husain A, Sadek A, Othman Y
Front Immunol 2019;10:1754. Epub 2019 Jul 24 doi: 10.3389/fimmu.2019.01754. PMID: 31396239Free PMC Article
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

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
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
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
Hadizadeh H, Salehi M, Khoramnejad S, Vosoughi K, Rezaei N
Pediatr Allergy Immunol 2017 May;28(3):280-287. Epub 2017 Feb 22 doi: 10.1111/pai.12685. PMID: 27893166
Johnson WD Jr, Pape JW
Immunol Ser 1989;44:65-78. PMID: 2489126

Recent systematic reviews

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
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
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
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article

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