DAVID syndrome
| DAVID syndrome | |
|---|---|
| Specialty | Medical 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]
References
- ^ Lal, Rayhan A.; Bachrach, Laura K.; Hoffman, Andrew R.; Inlora, Jingga; Rego, Shannon; Snyder, Michael P.; Lewis, David B. (2017). "A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation". The Journal of Clinical Endocrinology and Metabolism. 102 (7): 2127–2130. doi:10.1210/jc.2017-00341. PMID 28472507. S2CID 3773076.
- ^ Brue, T.; Quentien, M. H.; Khetchoumian, K.; Bensa, M.; Capo-Chichi, J. M.; Delemer, B.; Balsalobre, A.; Nassif, C.; Papadimitriou, D. T.; Pagnier, A.; Hasselmann, C.; Patry, L.; Schwartzentruber, J.; Souchon, P. F.; Takayasu, S.; Enjalbert, A.; Van Vliet, G.; Majewski, J.; Drouin, J.; Samuels, M. E. (2014). "Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies". BMC Medical Genetics. 15: 139. doi:10.1186/s12881-014-0139-9. PMC 4411703. PMID 25524009.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ 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.
- ^ Nogueira, M.; Pinheiro, M.; Maia, R.; Silva, R. S.; Costa, C.; Campos, T.; Leão, M.; Vitor, A. B.; Castro-Correia, C.; Fontoura, M. (2020). "Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome". Clinical Pediatric Endocrinology. 29 (3): 111–113. doi:10.1297/cpe.29.111. PMC 7348627. PMID 32694887.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |