11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
98 citations
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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.
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.