KEGG DISEASE: Immunodysregulation with variable immunodeficiency and autoimmunity

KEGG

DISEASE: Immunodysregulation with variable immunodeficiency and autoimmunity

Entry

H02958                      Disease

Name

Immunodysregulation with variable immunodeficiency and autoimmunity

Description

Immunodysregulation with variable immunodeficiency and autoimmunity (IMDIA) is a combined immunodeficiency characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Affected individuals displayed a profound reduction in circulating MAIT cell numbers. It has been reported that mutations in IKZF2 cause this disease. IKZF2 encodes the zinc-finger protein Helios, which can act both as an activator and repressor of transcription. Helios is a member of the Ikaros family of transcription factors with pivotal roles in T-follicular helper, NK- and T-regulatory cell physiology.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02958  Immunodysregulation with variable immunodeficiency and autoimmunity

Gene

IKZF2 [HSA:22807] [KO:K09220]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki OY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K

Title

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.

Journal

Blood Adv 6:2444-2451 (2022)
DOI:10.1182/bloodadvances.2021006367

Reference

Authors

Hetemaki I, Kaustio M, Kinnunen M, Heikkila N, Keskitalo S, Nowlan K, Miettinen S, Sarkkinen J, Glumoff V, Andersson N, Kettunen K, Vanhanen R, Nurmi K, Eklund KK, Dunkel J, Mayranpaa MI, Schlums H, Arstila TP, Kisand K, Bryceson YT, Peterson P, Otava U, Syrjanen J, Saarela J, Varjosalo M, Kekalainen E

Title

Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells.

Journal

Sci Immunol 6:eabe3454 (2021)
DOI:10.1126/sciimmunol.abe3454

LinkDB

» Japanese version

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