From Wikipedia, the free encyclopedia
Genetic disorder
Medical condition
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]
-
^ 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.
-
^ 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.