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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
Boyle T, Zaragoza R, Li J, Cvetanovski V, Weaver P, Hoyle P, Venkatesha V, Fernando SL
Intern Med J 2023 Jul;53(7):1256-1260. Epub 2023 Jul 4 doi: 10.1111/imj.16104. PMID: 37092797
Harris R
Nurs Clin North Am 2018 Mar;53(1):47-56. doi: 10.1016/j.cnur.2017.10.005. PMID: 29362060
Pozzato G, Mazzaro C, Santini G, Burrone O
Leuk Lymphoma 1996 Jun;22(1-2):53-60. doi: 10.3109/10428199609051728. PMID: 8724528
Addiction 1995 Feb;90(2):296-7. PMID: 7703827

Diagnosis

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
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
Abonia JP, Castells MC
Allergy Asthma Proc 2002 Jan-Feb;23(1):53-7. PMID: 11894736
Essex M
Adv Virus Res 1999;53:71-88. doi: 10.1016/s0065-3527(08)60343-7. PMID: 10582095
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995

Therapy

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
Jaggers JR
Nurs Clin North Am 2018 Mar;53(1):1-11. doi: 10.1016/j.cnur.2017.09.003. PMID: 29362054
Graham BS
Annu Rev Med 2002;53:207-21. doi: 10.1146/annurev.med.53.082901.104035. PMID: 11818471
Charles MA, Schwarz MI
Postgrad Med 1973 Apr;53(4):86-92. doi: 10.1080/00325481.1973.11713420. PMID: 4632995
Drake TE, Maibach HI
Postgrad Med 1973 Mar;53(3):120-5. doi: 10.1080/00325481.1973.11713396. PMID: 4570710

Prognosis

Ku HC, Wu YL, Yip HT, Hsieh CY, Li CY, Ou HT, Chen YC, Ko NY
BMC Infect Dis 2023 Sep 28;23(1):636. doi: 10.1186/s12879-023-08628-8. PMID: 37770849Free PMC Article
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
Namale PE, Abdullahi LH, Fine S, Kamkuemah M, Wilkinson RJ, Meintjes G
Future Microbiol 2015;10(6):1077-99. doi: 10.2217/fmb.15.9. PMID: 26059627
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
Pozzato G, Mazzaro C, Santini G, Burrone O
Leuk Lymphoma 1996 Jun;22(1-2):53-60. doi: 10.3109/10428199609051728. PMID: 8724528

Clinical prediction guides

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
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
Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, Kim HM, Park HJ, Pai KS, Son BK, Shin KS, Oh MY, Woo YJ, Yoo Y, Lee KS, Lee KY, Lee CG, Lee JS, Chung EH, Choi EH, Hahn YS, Park HY, Kim JG
J Korean Med Sci 2012 Jul;27(7):788-93. Epub 2012 Jun 29 doi: 10.3346/jkms.2012.27.7.788. PMID: 22787376Free PMC Article
Tripathi AK, Misra R, Kalra P, Gupta N, Ahmad R
J Assoc Physicians India 2005 Aug;53:705-10. PMID: 16398081
Castro A, Farmer P
Am J Public Health 2005 Jan;95(1):53-9. doi: 10.2105/AJPH.2003.028563. PMID: 15623859Free PMC Article

Recent systematic reviews

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
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
Pormohammad A, Nasiri MJ, Riahi SM, Fallah F
Trop Med Int Health 2018 Jun;23(6):589-595. Epub 2018 May 21 doi: 10.1111/tmi.13059. PMID: 29660820

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