DAVID syndrome

{{Infobox medical condition

| name = 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.{{Cite journal|last1=Lal|first1=Rayhan A.|last2=Bachrach|first2=Laura K.|last3=Hoffman|first3=Andrew R.|last4=Inlora|first4=Jingga|last5=Rego|first5=Shannon|last6=Snyder|first6=Michael P.|last7=Lewis|first7=David B.|date=2017-07-01|title=A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation|journal=The Journal of Clinical Endocrinology & Metabolism|volume=102|issue=7|pages=2127–2130|doi=10.1210/jc.2017-00341|pmid=28472507|s2cid=3773076|issn=0021-972X|doi-access=free|pmc=11651530}} It is also known to lead to symptomatic hypoglycemia.

References

{{Reflist|refs=

{{Cite journal|title=A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation|journal=The Journal of Clinical Endocrinology and Metabolism|year=2017|doi=10.1210/jc.2017-00341|last1=Lal|first1=Rayhan A.|last2=Bachrach|first2=Laura K.|last3=Hoffman|first3=Andrew R.|last4=Inlora|first4=Jingga|last5=Rego|first5=Shannon|last6=Snyder|first6=Michael P.|last7=Lewis|first7=David B.|volume=102|issue=7|pages=2127–2130|pmid=28472507|s2cid=3773076|doi-access=free|pmc=11651530}}

{{Cite journal|title=Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies|journal=BMC Medical Genetics|year=2014|doi=10.1186/s12881-014-0139-9|pmc=4411703|last1=Brue|first1=T.|last2=Quentien|first2=M. H.|last3=Khetchoumian|first3=K.|last4=Bensa|first4=M.|last5=Capo-Chichi|first5=J. M.|last6=Delemer|first6=B.|last7=Balsalobre|first7=A.|last8=Nassif|first8=C.|last9=Papadimitriou|first9=D. T.|last10=Pagnier|first10=A.|last11=Hasselmann|first11=C.|last12=Patry|first12=L.|last13=Schwartzentruber|first13=J.|last14=Souchon|first14=P. F.|last15=Takayasu|first15=S.|last16=Enjalbert|first16=A.|last17=Van Vliet|first17=G.|last18=Majewski|first18=J.|last19=Drouin|first19=J.|last20=Samuels|first20=M. E.|volume=15|page=139|pmid=25524009 |doi-access=free }}

{{Cite journal|title=Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome|journal=Clinical Pediatric Endocrinology|year=2020|doi=10.1297/cpe.29.111|pmid=32694887|pmc=7348627|last1=Nogueira|first1=M.|last2=Pinheiro|first2=M.|last3=Maia|first3=R.|last4=Silva|first4=R. S.|last5=Costa|first5=C.|last6=Campos|first6=T.|last7=Leão|first7=M.|last8=Vitor|first8=A. B.|last9=Castro-Correia|first9=C.|last10=Fontoura|first10=M.|volume=29|issue=3|pages=111–113}}

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Category:Genetic syndromes

Category:Lymphocytic immune system disorders