Deficit in Anterior Pituitary Function And Variable Immunodeficiency (DAVID)

NFKB2 gene

Also known as: Immunodeficiency, common variable, 10

– OMIM#615577 https://www.omim.org/entry/615577

1. The disease

A rare disease combining anterior pituitary hormone deficiency and common variable immunodeficiency.

2. The symptoms

Disease onset presents in childhood with recurrent respiratory infections, hypoglycaemia, and autoimmune phenomena (such as alopecia and others skin disorders). Lack of early signs or symptoms does not exclude the diagnosis.

3. Actions to take in case of early diagnosis:

• Laboratorial evaluation can be done as the analysis of globulins and vaccinate response, measurement of hormones, such ACTH, GH and TSH.

• DAVID syndrome is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Immunology and Endocrinology Centers. Management is provided by multidisciplinary team.
• Immunoglobulin replacement for hypogammaglobulinemia and, if an ACTH deficiency is diagnosed, oral hydrocortisone.
• Genetic counselling should be offered to at-risk family members.

4. For more information:

• Orphanet: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293978
• Biblio: Brue T, Quentien MH, Khetchoumian K, et al. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet. 2014;15:139. PMID: 25524009.