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Immunodeficiency 15a(IMD15A)

MedGen UID:
1648385
•Concept ID:
C4748694
•
Disease or Syndrome
Synonyms: IMD15A; IMMUNODEFICIENCY 15A
 
Gene (location): IKBKB (8p11.21)
 
Monarch Initiative: MONDO:0032599
OMIM®: 618204

Definition

Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect. [from OMIM]

Clinical features

From HPO
Recurrent sinusitis
MedGen UID:
107919
•Concept ID:
C0581354
•
Disease or Syndrome
A recurrent form of sinusitis.
See: Feature record | Search on this feature
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
Chronic mucocutaneous candidiasis
MedGen UID:
2426
•Concept ID:
C0006845
•
Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
See: Feature record | Search on this feature
Cutaneous abscess
MedGen UID:
450991
•Concept ID:
C0149777
•
Pathologic Function
A circumscribed area of pus or necrotic debris in the skin.
See: Feature record | Search on this feature
Acne inversa
MedGen UID:
57993
•Concept ID:
C0162836
•
Disease or Syndrome
A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.
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
Decreased proportion of CD8-positive T cells
MedGen UID:
374188
•Concept ID:
C1839305
•
Finding
A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
See: Feature record | Search on this feature
Decreased proportion of memory B cells
MedGen UID:
893145
•Concept ID:
C4072913
•
Finding
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
See: Feature record | Search on this feature
Decreased proportion of CD4-positive helper T cells
MedGen UID:
1719772
•Concept ID:
C5235140
•
Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Accelerating Sustainable Development Goals for South African adolescents from high HIV prevalence areas: a longitudinal path analysis.
Meinck F, Orkin M, Cluver L
BMC Med 2021 Nov 11;19(1):263. doi: 10.1186/s12916-021-02137-8. PMID: 34758838Free PMC Article
Changing Epidemiology and Predisposing Factors for Invasive Pneumococcal Disease at Two Australian Tertiary Hospitals.
Hernstadt H, Cheung A, Hurem D, Vasilunas N, Phuong LK, Quinn P, Agrawal R, Daley AJ, Cole T, Gwee A
Pediatr Infect Dis J 2020 Jan;39(1):1-6. doi: 10.1097/INF.0000000000002489. PMID: 31815835
Free Light Chains as a Novel Diagnostic Biomarker of Immune System Abnormalities in Multiple Sclerosis and HIV Infection.
Gudowska-Sawczuk M, Mroczko B
Biomed Res Int 2019;2019:8382132. Epub 2019 Dec 9 doi: 10.1155/2019/8382132. PMID: 31886258Free PMC Article
Emergence and persistence of nevirapine resistance in breast milk after single-dose nevirapine administration.
Hudelson SE, McConnell MS, Bagenda D, Piwowar-Manning E, Parsons TL, Nolan ML, Bakaki PM, Thigpen MC, Mubiru M, Fowler MG, Eshleman SH
AIDS 2010 Feb 20;24(4):557-61. doi: 10.1097/QAD.0b013e3283346e60. PMID: 20057308Free PMC Article
Heterocyclic rimantadine analogues with antiviral activity.
Stamatiou G, Foscolos GB, Fytas G, Kolocouris A, Kolocouris N, Pannecouque C, Witvrouw M, Padalko E, Neyts J, De Clercq E
Bioorg Med Chem 2003 Dec 1;11(24):5485-92. doi: 10.1016/j.bmc.2003.09.024. PMID: 14642592

Diagnosis

Accelerating Sustainable Development Goals for South African adolescents from high HIV prevalence areas: a longitudinal path analysis.
Meinck F, Orkin M, Cluver L
BMC Med 2021 Nov 11;19(1):263. doi: 10.1186/s12916-021-02137-8. PMID: 34758838Free PMC Article
Free Light Chains as a Novel Diagnostic Biomarker of Immune System Abnormalities in Multiple Sclerosis and HIV Infection.
Gudowska-Sawczuk M, Mroczko B
Biomed Res Int 2019;2019:8382132. Epub 2019 Dec 9 doi: 10.1155/2019/8382132. PMID: 31886258Free PMC Article
The expression profiles of microRNAs in Kaposi's sarcoma.
Wu XJ, Pu XM, Zhao ZF, Zhao YN, Kang XJ, Wu WD, Zou YM, Wu CY, Qu YY, Zhang DZ, Feng YY, Liu JY
Tumour Biol 2015 Jan;36(1):437-46. Epub 2014 Oct 1 doi: 10.1007/s13277-014-2626-1. PMID: 25266797
Development of a microchip Europium nanoparticle immunoassay for sensitive point-of-care HIV detection.
Liu J, Du B, Zhang P, Haleyurgirisetty M, Zhao J, Ragupathy V, Lee S, DeVoe DL, Hewlett IK
Biosens Bioelectron 2014 Nov 15;61:177-83. Epub 2014 May 9 doi: 10.1016/j.bios.2014.04.057. PMID: 24880655
Performance characteristics of the AmpliScreen HIV-1 test, an assay designed for screening plasma mini-pools.
Yang Y, Wisbeski MH, Mendoza M, Dorf S, Xu D, Nguyen M, Yeh S, Sun R
Biologicals 1999 Dec;27(4):315-23. doi: 10.1006/biol.1999.0226. PMID: 10686058

Therapy

Accelerating Sustainable Development Goals for South African adolescents from high HIV prevalence areas: a longitudinal path analysis.
Meinck F, Orkin M, Cluver L
BMC Med 2021 Nov 11;19(1):263. doi: 10.1186/s12916-021-02137-8. PMID: 34758838Free PMC Article
Changing Epidemiology and Predisposing Factors for Invasive Pneumococcal Disease at Two Australian Tertiary Hospitals.
Hernstadt H, Cheung A, Hurem D, Vasilunas N, Phuong LK, Quinn P, Agrawal R, Daley AJ, Cole T, Gwee A
Pediatr Infect Dis J 2020 Jan;39(1):1-6. doi: 10.1097/INF.0000000000002489. PMID: 31815835
Interferon-alpha in treatment of chronic hepatitis C in co-infected HIV-patients in combination with ribavirin and as a pre-load therapy in treatment-naive HIV-positive patients. 8th European Conference on Clinical Aspects and Treatment of HIV Infection (8th ECCATH), 29-31 October, Athens Greece.
Tossing G
Eur J Med Res 2002 Jan 29;7(1):44-6. PMID: 11827840
Therapy of chronic hepatitis B and C and treatment options in HCV-HIV co-infection--European Conference on Infectious Diseases and Tropical Medicine, EuCID 2001, 3-6 May 2001, Leipzig.
Tossing G
Eur J Med Res 2001 Jun 28;6(6):272-4. PMID: 11432799
New developments in interferon therapy.
Tossing G
Eur J Med Res 2001 Feb 28;6(2):47-65. PMID: 11313191

Prognosis

Emerging role of non-coding RNAs in the course of HIV infection.
Ghafouri-Fard S, Mahmud Hussen B, Abak A, Taheri M, Abdulmajid Ayatollahi S
Int Immunopharmacol 2022 Feb;103:108460. Epub 2021 Dec 20 doi: 10.1016/j.intimp.2021.108460. PMID: 34942460
Accelerating Sustainable Development Goals for South African adolescents from high HIV prevalence areas: a longitudinal path analysis.
Meinck F, Orkin M, Cluver L
BMC Med 2021 Nov 11;19(1):263. doi: 10.1186/s12916-021-02137-8. PMID: 34758838Free PMC Article
Free Light Chains as a Novel Diagnostic Biomarker of Immune System Abnormalities in Multiple Sclerosis and HIV Infection.
Gudowska-Sawczuk M, Mroczko B
Biomed Res Int 2019;2019:8382132. Epub 2019 Dec 9 doi: 10.1155/2019/8382132. PMID: 31886258Free PMC Article
The expression profiles of microRNAs in Kaposi's sarcoma.
Wu XJ, Pu XM, Zhao ZF, Zhao YN, Kang XJ, Wu WD, Zou YM, Wu CY, Qu YY, Zhang DZ, Feng YY, Liu JY
Tumour Biol 2015 Jan;36(1):437-46. Epub 2014 Oct 1 doi: 10.1007/s13277-014-2626-1. PMID: 25266797
New developments in interferon therapy.
Tossing G
Eur J Med Res 2001 Feb 28;6(2):47-65. PMID: 11313191

Clinical prediction guides

Free Light Chains as a Novel Diagnostic Biomarker of Immune System Abnormalities in Multiple Sclerosis and HIV Infection.
Gudowska-Sawczuk M, Mroczko B
Biomed Res Int 2019;2019:8382132. Epub 2019 Dec 9 doi: 10.1155/2019/8382132. PMID: 31886258Free PMC Article
Dynamic features of apo and bound HIV-Nef protein reveal the anti-HIV dimerization inhibition mechanism.
Moonsamy S, Bhakat S, Soliman ME
J Recept Signal Transduct Res 2015;35(4):346-56. Epub 2015 Sep 10 doi: 10.3109/10799893.2014.984310. PMID: 26355431
Prevalence and risk factors associated with resistance-associated mutations to etravirine in a cohort of perinatally HIV-infected children.
Contreras GA, Bell CS, Del Bianco GP, Pérez N, Kleinosky MT, Murphy JR, Heresi GP
J Antimicrob Chemother 2013 Oct;68(10):2344-8. Epub 2013 Jun 3 doi: 10.1093/jac/dkt198. PMID: 23732699
Factors associated with virological success with raltegravir-containing regimens and prevalence of raltegravir-resistance-associated mutations at failure in the ARCA database.
Rusconi S, Vitiello P, Adorni F, Bruzzone B, De Luca A, Micheli V, Meraviglia P, Maserati R, Di Pietro M, Colao G, Penco G, Di Biagio A, Punzi G, Monno L, Zazzi M; Antiretroviral Resistance Cohort Analysis Collaborative Group
Clin Microbiol Infect 2013 Oct;19(10):936-42. Epub 2013 Jan 4 doi: 10.1111/1469-0691.12100. PMID: 23289841
Nasopharyngeal colonization with Streptococcus pneumoniae in children infected with human immunodeficiency virus.
Cardoso VC, Cervi MC, Cintra OA, Salathiel AS, Gomes AC
J Pediatr (Rio J) 2006 Jan-Feb;82(1):51-7. doi: 10.2223/JPED.1437. PMID: 16532148

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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