DAVID syndrome

DAVID syndrome
SpecialtyMedical genetics, immunology

DAVID syndrome, short for deficient anterior pituitary with variable immune deficiency syndrome, is a rare genetic disorder that is characterized by adrenocorticotropic hormone deficiency combined with common variable immunodeficiency and hypogammaglobulinemia, which is caused by a heterozygous mutation in the NFKB2 gene.[1][2][3] It is also known to lead to symptomatic hypoglycemia.[4]

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  3. ^ Lal, Rayhan A.; Bachrach, Laura K.; Hoffman, Andrew R.; Inlora, Jingga; Rego, Shannon; Snyder, Michael P.; Lewis, David B. (2017-07-01). "A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation". The Journal of Clinical Endocrinology & Metabolism. 102 (7): 2127–2130. doi:10.1210/jc.2017-00341. ISSN 0021-972X. PMID 28472507. S2CID 3773076.
  4. ^ Cite error: The named reference nogueira was invoked but never defined (see the help page).