Chronic granulomatous disease associated colitis leading to profound zinc deficiency

T-cell function also declines; including decreased production of TH1 cytokines (IFN-γ, IL-2, and TNF).5-7 Acrodermatitis enteropathica is an autosomal recessive genetic defect in zinc absorption that occurs in 1 in 500,000 children.8 It involves the SLC39A gene on chromosome 8q24, which encodes for...

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Veröffentlicht in:The journal of allergy and clinical immunology in practice (Cambridge, MA) MA), 2014-03, Vol.2 (2), p.217-219
Hauptverfasser: Ladinsky, Hava Tillipman, MD, Perez, Elena E., MD, PhD, Dorsey, Morna J., MD, MMSc
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Sprache:eng
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Zusammenfassung:T-cell function also declines; including decreased production of TH1 cytokines (IFN-γ, IL-2, and TNF).5-7 Acrodermatitis enteropathica is an autosomal recessive genetic defect in zinc absorption that occurs in 1 in 500,000 children.8 It involves the SLC39A gene on chromosome 8q24, which encodes for the Zip4 intestinal zinc transporter, and it presents with a triad of acral and periorificial dermatitis, diarrhea, and alopecia. A review of pediatric patients diagnosed with inflammatory bowel disease revealed zinc deficiency in 40%.4 Our patient was a 3-year-old Pakistani girl born to consanguineous parents, with a mutation of the CYBA gene that affects the p22 phox protein.
ISSN:2213-2198
2213-2201
DOI:10.1016/j.jaip.2013.10.003