98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
155 citations
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June 2009 in “International Journal of Dermatology” Lichen planus is a skin condition that can resolve on its own, is linked to hepatitis C, and increases the risk of skin cancer.
103 citations
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January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.