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Immunodeficiency of Unknown Origin

MedGen UID:
926446
Concept ID:
C4288914
Disease or Syndrome

Definition

A condition of compromised immune function resulting from an uncharacterized defect. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency of Unknown Origin

Professional guidelines

PubMed

Stieber C, Cichon S, Magerl M, Nöthen MM
Eur J Hum Genet 2017 Oct;25(10):e1-4. Epub 2017 Jul 5 doi: 10.1038/ejhg.2017.104. PMID: 28905884Free PMC Article
Mansi M, Zanichelli A, Coerezza A, Suffritti C, Wu MA, Vacchini R, Stieber C, Cichon S, Cicardi M
J Intern Med 2015 May;277(5):585-93. Epub 2014 Sep 27 doi: 10.1111/joim.12304. PMID: 25196353
Kendrick JE, Numnum TM, Estes JM, Kimball KJ, Leath CA, Straughn JM Jr
J Am Coll Surg 2008 Sep;207(3):393-7. Epub 2008 Jun 2 doi: 10.1016/j.jamcollsurg.2008.04.001. PMID: 18722945

Recent clinical studies

Etiology

Erdem H, Baymakova M, Alkan S, Letaief A, Yahia WB, Dayyab F, Kolovani E, Grgic S, Cosentino F, Hasanoglu I, Khedr R, Marino A, Pekok AU, Eser F, Arapovic J, Guner HR, Miftode IL, Poposki K, Sanlidag G, Tahmaz A, Sipahi OR, Miftode EG, Oncu S, Cagla-Sonmezer M, Addepalli SK, Darazam IA, Kumari HP, Koc MM, Kumar MR, Sayana SB, Wegdan AA, Amer F, Ceylan MR, El-Kholy A, Onder T, Tehrani HA, Hakamifard A, Kayaaslan B, Shehata G, Caskurlu H, El-Sayed NM, Mortazavi SE, Pourali M, Elbahr U, Kulzhanova S, Yetisyigit T, Saad SA, Cag Y, Eser-Karlidag G, Pshenichnaya N, Belitova M, Akhtar N, Al-Majid F, Ayhan M, Khan MA, Lanzafame M, Makek MJ, Nsutebu E, Cascio A, Dindar-Demiray EK, Evren EU, Kalas R, Kalem AK, Baljić R, Ikram A, Kaya S, Liskova A, Szabo BG, Rahimi BA, Mutlu-Yilmaz E, Sener A, Rello J
Eur J Clin Microbiol Infect Dis 2023 Apr;42(4):387-398. Epub 2023 Feb 15 doi: 10.1007/s10096-023-04561-5. PMID: 36790531Free PMC Article
Parida S, Das S, Kar A, Routray RK
J Assoc Physicians India 2022 Oct;70(10):11-12. doi: 10.5005/japi-11001-0115. PMID: 37355866
Nguyen TK, Nguyen YH, Nguyen HT, Khong QM, Tran NK
BMC Infect Dis 2022 Jan 18;22(1):61. doi: 10.1186/s12879-022-07049-3. PMID: 35042469Free PMC Article
Karabela ŞN, Kart Yasar K
Hosp Pract (1995) 2022 Aug;50(3):222-227. Epub 2020 Jun 10 doi: 10.1080/21548331.2020.1775453. PMID: 32520649
Long H, Zhang G, Wang L, Lu Q
Clin Rev Allergy Immunol 2016 Apr;50(2):189-213. doi: 10.1007/s12016-015-8485-8. PMID: 25876839

Diagnosis

Erdem H, Baymakova M, Alkan S, Letaief A, Yahia WB, Dayyab F, Kolovani E, Grgic S, Cosentino F, Hasanoglu I, Khedr R, Marino A, Pekok AU, Eser F, Arapovic J, Guner HR, Miftode IL, Poposki K, Sanlidag G, Tahmaz A, Sipahi OR, Miftode EG, Oncu S, Cagla-Sonmezer M, Addepalli SK, Darazam IA, Kumari HP, Koc MM, Kumar MR, Sayana SB, Wegdan AA, Amer F, Ceylan MR, El-Kholy A, Onder T, Tehrani HA, Hakamifard A, Kayaaslan B, Shehata G, Caskurlu H, El-Sayed NM, Mortazavi SE, Pourali M, Elbahr U, Kulzhanova S, Yetisyigit T, Saad SA, Cag Y, Eser-Karlidag G, Pshenichnaya N, Belitova M, Akhtar N, Al-Majid F, Ayhan M, Khan MA, Lanzafame M, Makek MJ, Nsutebu E, Cascio A, Dindar-Demiray EK, Evren EU, Kalas R, Kalem AK, Baljić R, Ikram A, Kaya S, Liskova A, Szabo BG, Rahimi BA, Mutlu-Yilmaz E, Sener A, Rello J
Eur J Clin Microbiol Infect Dis 2023 Apr;42(4):387-398. Epub 2023 Feb 15 doi: 10.1007/s10096-023-04561-5. PMID: 36790531Free PMC Article
Nguyen TK, Nguyen YH, Nguyen HT, Khong QM, Tran NK
BMC Infect Dis 2022 Jan 18;22(1):61. doi: 10.1186/s12879-022-07049-3. PMID: 35042469Free PMC Article
Karabela ŞN, Kart Yasar K
Hosp Pract (1995) 2022 Aug;50(3):222-227. Epub 2020 Jun 10 doi: 10.1080/21548331.2020.1775453. PMID: 32520649
Farkas H, Veszeli N, Kajdácsi E, Cervenak L, Varga L
Clin Rev Allergy Immunol 2016 Oct;51(2):140-51. doi: 10.1007/s12016-016-8539-6. PMID: 27142368
Long H, Zhang G, Wang L, Lu Q
Clin Rev Allergy Immunol 2016 Apr;50(2):189-213. doi: 10.1007/s12016-015-8485-8. PMID: 25876839

Therapy

Capeau J, Lagathu C, Béréziat V
Curr Opin HIV AIDS 2024 Jan 1;19(1):14-20. Epub 2023 Nov 6 doi: 10.1097/COH.0000000000000833. PMID: 38078606
Lemos AP, Domingues R, Gouveia C, de Sousa R, Brito MJ
J Paediatr Child Health 2021 May;57(5):653-658. Epub 2020 Dec 10 doi: 10.1111/jpc.15304. PMID: 33301212
Léon C, Dupuis A, Gachet C, Lanza F
Haematologica 2016 Aug;101(8):896-908. doi: 10.3324/haematol.2015.139394. PMID: 27478199Free PMC Article
Miller AC, Chacko T, Rashid RM, Ledford DK
Allergy Asthma Proc 2007 Mar-Apr;28(2):230-5. doi: 10.2500/aap.2007.28.2982. PMID: 17479610
Whimbey E, Ghosh S
Curr Clin Top Infect Dis 2000;20:232-55. PMID: 10943527

Prognosis

Betrains A, Wright WF, Moreel L, Staels F, Blockmans D, Vanderschueren S
Eur J Intern Med 2022 Dec;106:103-110. Epub 2022 Oct 17 doi: 10.1016/j.ejim.2022.10.002. PMID: 36261311
Saghazadeh A, Rezaei N
Adv Exp Med Biol 2021;1318:119-147. doi: 10.1007/978-3-030-63761-3_8. PMID: 33973176
Farkas H, Veszeli N, Kajdácsi E, Cervenak L, Varga L
Clin Rev Allergy Immunol 2016 Oct;51(2):140-51. doi: 10.1007/s12016-016-8539-6. PMID: 27142368
Long H, Zhang G, Wang L, Lu Q
Clin Rev Allergy Immunol 2016 Apr;50(2):189-213. doi: 10.1007/s12016-015-8485-8. PMID: 25876839
Martino R, Muñiz-Díaz E, Arilla M, Ibáñez M, Altés A, Guanyabens C, Madoz P
Haematologica 1995 Jul-Aug;80(4):305-10. PMID: 7590498

Clinical prediction guides

White JA, Wu F, Yasin S, Moskovljevic M, Varriale J, Dragoni F, Camilo-Contreras A, Duan J, Zheng MY, Tadzong NF, Patel HB, Quiambao JMC, Rhodehouse K, Zhang H, Lai J, Beg SA, Delannoy M, Kilcrease C, Hoffmann CJ, Poulin S, Chano F, Tremblay C, Cherian J, Barditch-Crovo P, Chida N, Moore RD, Summers MF, Siliciano RF, Siliciano JD, Simonetti FR
J Clin Invest 2023 Mar 15;133(6) doi: 10.1172/JCI165245. PMID: 36602866Free PMC Article
Sharvit G, Schwartz D, Heering G, Shulman A, Avigdor A, Rahav G, Toren A, Nagler A, Canaani J
Sci Rep 2022 Jun 11;12(1):9664. doi: 10.1038/s41598-022-14059-3. PMID: 35690634Free PMC Article
Lemos AP, Domingues R, Gouveia C, de Sousa R, Brito MJ
J Paediatr Child Health 2021 May;57(5):653-658. Epub 2020 Dec 10 doi: 10.1111/jpc.15304. PMID: 33301212
Liu Y
Ann Nucl Med 2011 Oct;25(8):536-46. Epub 2011 Jun 15 doi: 10.1007/s12149-011-0506-y. PMID: 21674240
Martino R, Muñiz-Díaz E, Arilla M, Ibáñez M, Altés A, Guanyabens C, Madoz P
Haematologica 1995 Jul-Aug;80(4):305-10. PMID: 7590498

Recent systematic reviews

Jittamala P, Monteiro W, Smit MR, Pedrique B, Specht S, Chaccour CJ, Dard C, Del Giudice P, Khieu V, Maruani A, Failoc-Rojas VE, Sáez-de-Ocariz M, Soriano-Arandes A, Piquero-Casals J, Faisant A, Brenier-Pinchart MP, Wimmersberger D, Coulibaly JT, Keiser J, Boralevi F, Sokana O, Marks M, Engelman D, Romani L, Steer AC, von Seidlein L, White NJ, Harriss E, Stepniewska K, Humphreys GS, Kennon K, Guerin PJ, Kobylinski KC
PLoS Negl Trop Dis 2021 Mar;15(3):e0009144. Epub 2021 Mar 17 doi: 10.1371/journal.pntd.0009144. PMID: 33730099Free PMC Article

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