Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome-Reference-Cited by-同舟云学术

Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome

Published:2020 Issue:3 Volume:29 Page:111-113
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Nogueira Mayara¹,Pinheiro Marta¹,Maia Ruben²,Silva Rita Santos³,Costa Carla³,Campos Teresa⁴,Leão Miguel⁵,Vitor Artur Bonito⁶,Castro-Correia Cíntia³,Fontoura Manuel³

Affiliation:

1. Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal

2. Department of Neuroradiology, Centro Hospitalar Universitário de São João, Porto, Portugal

3. Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal

4. Reference Center of Hereditary and Metabolic Diseases, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal

5. Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal

6. Department of Infectious Diseases and Immunodeficiencies, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/29/3/29_2019-0032/_pdf

Reference10 articles.

1. 1. Quentien, MH, Delemer, B, Papadimitriou, DT, Souchon, PF, Jaussaud, R, Pagnier, A, et al. Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections. J Clin Endocrinol Metab 2012;97: E121–8.

2. 2. Brue, T, Quentien, MH, Khetchoumian, K, Bensa, M, Capo-Chichi, JM, Delemer, B, 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.

3. 3. Shi, C, Wang, F, Tong, A, Zhang, XQ, Song, HM, Liu, ZY, et al. NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. Medicine (Baltimore) 2016;95: e5081.

4. 4. Lal, RA, Bachrach, LK, Hoffman, AR, Inlora, J, Rego, S, Snyder, MP, et al. A case report of hypoglycemia and hypogammaglobulinemia: DAVID syndrome in a patient with a novel NFKB2 mutation. J Clin Endocrinol Metab 2017;102: 2127–30.

5. 5. Klemann, C, Camacho-Ordonez, N, Yang, L, Eskandarian, Z, Rojas-Restrepo, JL, Frede, N, et al. Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2. Front Immunol 2019;10: 297.

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1. Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review;Journal of Clinical Immunology;2024-07-11

2. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports;Journal of Neuroendocrinology;2023-06

3. The search for a unifying diagnosis involving neurological, endocrine and immune dysfunction: a case report of a novel presentation of DAVID syndrome;BMC Pediatrics;2022-12-09

4. Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach;Frontiers in Pediatrics;2022-03-23