IKBKB deficiency causes SCID

Stable Identifier
R-HSA-5602636
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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

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

N. Engl. J. Med. 2013
Participants
Participates
Disease
Name Identifier Synonyms
severe combined immunodeficiency DOID:627 Severe combined immunodeficiency, combined T and B cell inborn immunodeficiency, SCID, Severe combined immunodeficiency disease (disorder), SCID
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