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DAVID syndrome, having variable endocrine and immune deficiencies

Home » What is Primary Immunodeficiency? » DAVID syndrome, having variable endocrine and immune deficiencies

DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A similar mutation was previously found in Nfkb2 in the immunodeficient Lym1 mouse strain, but the effect of the mutation on endocrine function was not evaluated.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411703

Clinic Case Report NFKKB2 Mutation

A Case Report of Hypoglycemia and Hypogammaglobulinemia

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