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Acquired adult-onset immunodeficiency

MedGen UID:
1684214
Concept ID:
C5191336
Disease or Syndrome
Synonyms: acquired adult-onset immunodeficiency; acquired immunodeficiency of adults; adult acquired immunodeficiency; adult onset immunodeficiency syndrome; adult-onset immunodeficiency due to anti-interferon-gamma autoantibody; Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies; adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies; Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies; adult-onset immunodeficiency with anti-interferon-gamma autoantibodies; anti-IFN-gamma autoantibody syndrome
SNOMED CT: Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies (784393004); Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies (784393004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017617
Orphanet: ORPHA306431

Definition

A rare acquired immunodeficiency disorder characterised by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalised), fever, weight loss and/or reactive skin lesions. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcquired adult-onset immunodeficiency

Recent clinical studies

Etiology

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Tungphaisal V, Phinyo P, Rujiwetpongstorn R, Kiratikanon S, Tovanabutra N, Chaiwarith R, Chiewchanvit S, Chuamanochan M
Dermatology 2023;239(2):248-254. Epub 2023 Jan 18 doi: 10.1159/000528064. PMID: 36652928
Meiring ST, Quan VC, Cohen C, Dawood H, Karstaedt AS, McCarthy KM, Whitelaw AC, Govender NP; Group for Enteric, Respiratory and Meningeal disease Surveillance in South Africa (GERMS-SA)
AIDS 2012 Nov 28;26(18):2307-14. doi: 10.1097/QAD.0b013e3283570567. PMID: 22739390
Lieberman R
J Midwifery Womens Health 2000 Mar-Apr;45(2):176-82. doi: 10.1016/s1526-9523(00)00002-7. PMID: 10812863

Diagnosis

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Nicolau S, Milone M
Curr Neurol Neurosci Rep 2023 Nov;23(11):777-784. Epub 2023 Oct 19 doi: 10.1007/s11910-023-01311-0. PMID: 37856049
Sipos F, Műzes G
APMIS 2023 Dec;131(12):698-704. Epub 2023 Sep 20 doi: 10.1111/apm.13351. PMID: 37729389
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Chan JF, Lau SK, Yuen KY, Woo PC
Emerg Microbes Infect 2016 Mar 9;5(3):e19. doi: 10.1038/emi.2016.18. PMID: 26956447Free PMC Article

Therapy

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Cunningham-Rundles C
Immunol Rev 2019 Jan;287(1):145-161. doi: 10.1111/imr.12728. PMID: 30565247Free PMC Article
Chan JF, Lau SK, Yuen KY, Woo PC
Emerg Microbes Infect 2016 Mar 9;5(3):e19. doi: 10.1038/emi.2016.18. PMID: 26956447Free PMC Article
Bittencourt AL, de Oliveira Mde F
Int J Dermatol 2010 Oct;49(10):1099-110. doi: 10.1111/j.1365-4632.2010.04568.x. PMID: 20883400

Prognosis

Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Tungphaisal V, Phinyo P, Rujiwetpongstorn R, Kiratikanon S, Tovanabutra N, Chaiwarith R, Chiewchanvit S, Chuamanochan M
Dermatology 2023;239(2):248-254. Epub 2023 Jan 18 doi: 10.1159/000528064. PMID: 36652928
Tanboon J, Uruha A, Arahata Y, Dittmayer C, Schweizer L, Goebel HH, Nishino I, Stenzel W
Brain Pathol 2021 May;31(3):e12962. doi: 10.1111/bpa.12962. PMID: 34043258Free PMC Article
Cunningham-Rundles C
Immunol Rev 2019 Jan;287(1):145-161. doi: 10.1111/imr.12728. PMID: 30565247Free PMC Article
Koeppen AH
Handb Clin Neurol 2018;154:129-149. doi: 10.1016/B978-0-444-63956-1.00008-4. PMID: 29903436Free PMC Article

Clinical prediction guides

Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K
Front Immunol 2024;15:1342668. Epub 2024 Jan 29 doi: 10.3389/fimmu.2024.1342668. PMID: 38348033Free PMC Article
Tanboon J, Uruha A, Arahata Y, Dittmayer C, Schweizer L, Goebel HH, Nishino I, Stenzel W
Brain Pathol 2021 May;31(3):e12962. doi: 10.1111/bpa.12962. PMID: 34043258Free PMC Article
Jutivorakool K, Sittiwattanawong P, Kantikosum K, Hurst CP, Kumtornrut C, Asawanonda P, Klaewsongkram J, Rerknimitr P
Acta Derm Venereol 2018 Aug 29;98(8):742-747. doi: 10.2340/00015555-2959. PMID: 29701234
Mariotte E, Azoulay E, Galicier L, Rondeau E, Zouiti F, Boisseau P, Poullin P, de Maistre E, Provôt F, Delmas Y, Perez P, Benhamou Y, Stepanian A, Coppo P, Veyradier A; French Reference Center for Thrombotic Microangiopathies
Lancet Haematol 2016 May;3(5):e237-45. Epub 2016 Apr 16 doi: 10.1016/S2352-3026(16)30018-7. PMID: 27132698
Regelson W
Perspect Biol Med 1992 Spring;35(3):330-8. doi: 10.1353/pbm.1992.0026. PMID: 1501996

Recent systematic reviews

Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article

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