Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Immunodeficiency 15a(IMD15A)

MedGen UID:: 1648385
•Concept ID:: C4748694
•: Disease or Syndrome

Synonyms:	IMD15A; IMMUNODEFICIENCY 15A

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Show all Hide all

Abnormality of the immune system
Abnormality of the respiratory system
- Recurrent respiratory infections
- Recurrent sinusitis

Professional guidelines

PubMed

Antiretroviral treatment-based cost saving interventions may offset expenses for new patients and earlier treatment start.

Angeletti C, Pezzotti P, Antinori A, Mammone A, Navarra A, Orchi N, Lorenzini P, Mecozzi A, Ammassari A, Murachelli S, Ippolito G, Girardi E
HIV Med 2014 Mar;15(3):165-74. Epub 2013 Oct 31 doi: 10.1111/hiv.12097. PMID: 24495188

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

See all (5)

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: 34758838 Free 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: 31886258 Free PMC Article

Paediatric and perinatal HIV/AIDS in Jamaica an international leadership initiative, 2002-2007.

Christie CD, Steel-Duncan J, Palmer P, Pierre R, Harvey K, Johnson N, Samuels LA, Dunkley-Thompson J, Singh-Minott I, Anderson M, Billings C, Evans-Gilbert T, Rodriquez B, McDonald C, Moore J, Taylor F, Smikle MF, Williams E, Whorms S, Davis D, Mullings A, Morgan O, McDonald D, Alexander G, Onyonyor A, Hylton-Kong T, Weller P, Harris M, Woodham A, Haughton D, Carrington D, Figueroa JP
West Indian Med J 2008 Jun;57(3):204-15. PMID: 19583118

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

See all (19)

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: 34758838 Free 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: 31886258 Free PMC Article

Global Health Diplomacy, Monitoring & Evaluation, and the Importance of Quality Assurance & Control: Findings from NIMH Project Accept (HPTN 043): A Phase III Randomized Controlled Trial of Community Mobilization, Mobile Testing, Same-Day Results, and Post-Test Support for HIV in Sub-Saharan Africa and Thailand.

Kevany S, Khumalo-Sakutukwa G, Singh B, Chingono A, Morin S; NIMH Project Accept Study Team
PLoS One 2016;11(2):e0149335. Epub 2016 Feb 22 doi: 10.1371/journal.pone.0149335. PMID: 26901519 Free 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

See all (8)

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: 34758838 Free 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

Paediatric and perinatal HIV/AIDS in Jamaica an international leadership initiative, 2002-2007.

New developments in interferon therapy.

Tossing G
Eur J Med Res 2001 Feb 28;6(2):47-65. PMID: 11313191

See all (15)

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: 34758838 Free 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: 31886258 Free 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

Paediatric and perinatal HIV/AIDS in Jamaica an international leadership initiative, 2002-2007.

See all (10)