Comèl-Netherton syndrome – defined as primary immunodeficiency

BACKGROUND: Mutations in SPINK5, encoding the serine protease inhibitor LEKTI, cause Comèl-Netherton syndrome, an autosomal-recessive disease characterized by congenital ichthyosis, bamboo hair, and atopic diathesis. Despite increased frequency of infections, the immunocompetence of Comèl-Netherton...

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Main Authors: Renner, Ellen D, Hartl, Dominik, Rylaarsdam, Stacey, Young, Marguerite L, Monaco-Shawver, Linda, Kleiner, Gary, Markert, M Louise, Stiehm, E Richard, Belohradsky, Bernd H, Upton, Melissa P., Torgerson, Troy R, Orange, Jordan S, Ochs, Hans D
Format: Artigo
Language:Inglês
Published: 2009
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3685174/
https://ncbi.nlm.nih.gov/pubmed/19683336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2009.06.009
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