IKBKB deficiency causes SCID

Stable Identifier
R-HSA-5602636
Type
Pathway
Species
Homo sapiens
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Four patients with early-onset, life-threatening microbial infections and failure to thrive were found to carry a homozygous duplication c.1292dupG in exon 13 of IKBKB gene that results in a lack of expression of IKBKB (Pannicke U et al. 2013). IKBKB deficiency is associated with severe combined immunodeficiency (SCID), a health condition characterized by low levels of immunoglobulins (hypogammaglobulinemia). Further phenotype assessment revealed that patients peripheral-blood B cells and T cells had normal counts but were almost exclusively of naive phenotype. Regulatory T cells and gamma delta T cells were absent.

Literature References
PubMed ID Title Journal Year
24369075 Deficiency of innate and acquired immunity caused by an IKBKB mutation

Pannicke, U, Baumann, B, Fuchs, S, Henneke, P, Rensing-Ehl, A, Rizzi, M, Janda, A, Hese, K, Schlesier, M, Holzmann, K, Borte, S, Laux, C, Rump, EM, Rosenberg, A, Zelinski, T, Schrezenmeier, H, Wirth, T, Ehl, S, Schroeder, ML, Schwarz, K

N. Engl. J. Med. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
severe combined immunodeficiency 627 Severe combined immunodeficiency, combined T and B cell inborn immunodeficiency, SCID, Severe combined immunodeficiency disease (disorder), SCID
Cross References
BioModels Database
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