Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports

    May 2023 in “ Journal of neuroendocrinology ”
    Thi Thom Mac, Frédéric Castinetti, Céline Bar, Sophie Julia, Marlène Pasquet, Pauline Romanet, Alexandru Saveanu, Grégory Mougel, Teddy Fauquier, Nicolas Jullien, Anne A. Barlier, Rachel Reynaud, Thierry Brue
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    TLDR DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
    The document discusses a study on Deficient Anterior Pituitary with Common Variable Immune Deficiency (DAVID) syndrome, a rare condition caused by heterozygous mutations of the NFKB2 gene. The study involved a new case of a 7-year-old boy and a review of 28 other cases. The syndrome is characterized by adrenocorticotropic hormone (ACTH) deficiency, hypogammaglobulinemia, and recurrent infections. Alopecia was noted in 44% of the patients. All patients had mutations at the 3′end of the NFKB2 gene. The study concludes that DAVID syndrome is characterized by recurrent infections, autoimmune manifestations including alopecia, and hormone deficiencies, particularly ACTH deficiency. The study also recommends regular screening for anterior hypopituitarism in patients with NFKB2 variants.
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