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Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

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  • معلومة اضافية
    • Contributors:
      Marseille medical genetics - Centre de génétique médicale de Marseille (MMG); Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM); Institut Marseille Maladies Rares (MarMaRa); Aix Marseille Université (AMU); Hanoï Medical University; Service d'endocrinologie, diabète, maladies métaboliques Hôpital de la Conception - APHM; Service Endocrinologie, génétique et gynécologie médicale pédiatrique CHU Toulouse; Pôle Enfants CHU Toulouse; Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse); Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP); Université Toulouse III - Paul Sabatier (UT3); Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM); Centre Hospitalier Universitaire de Toulouse (CHU Toulouse); Laboratoire de Biochimie et de Biologie Moléculaire Hôpital de la Conception - APHM; Hôpital de la Conception CHU - APHM (LA CONCEPTION); Institut de neurophysiopathologie (INP); Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS); Service de pédiatrie multidisciplinaire Hôpital de la Timone Enfants - APHM; Hôpital de la Timone CHU - APHM (TIMONE); ADEREM; Institut Marseille maladies raresMARMARA
    • بيانات النشر:
      HAL CCSD
      Wiley
    • الموضوع:
      2023
    • Collection:
      Aix-Marseille Université: HAL
    • نبذة مختصرة :
      International audience ; Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary hypogammaglobulinemia. It is due to heterozygous mutations of the nuclear factor kappa-B subunit 2 (NFKB2) gene. Only a few isolated cases have been reported since its first description by our team. Through the international multicenter GENHYPOPIT network, we identified a new case of DAVID syndrome. We then conducted an extensive review of the DAVID syndrome cases published from 2012 to 2022. A 7-year-old boy was diagnosed with symptomatic hypoglycemia revealing ACTH deficiency. Laboratory tests showed asymptomatic hypogammaglobulinemia. He harbored a heterozygous point mutation in NFKB2 gene (c.2600C > T, p.Ala867Val). His management included hydrocortisone replacement treatment, and he also received subcutaneous immunoglobulins during the Covid-19 pandemic. We analyzed 28 cases of DAVID syndrome with ACTH deficiency. ACTH deficiency was the only hormone deficiency in 79% of patients, but some patients harbored growth hormone (GH) and thyroid stimulating hormone (TSH) deficiencies. The first presenting symptoms were sinus/pulmonary infections (82%, mean age of 3 years) and alopecia (mean age of 4.7 years). ACTH deficiency was the third presenting condition (mean age at diagnosis of 8.6 years). All patients had hypogammaglobulinemia (decreased IgA and IgM levels), and 57% of patients had at least one autoimmune manifestation. Heterozygous mutations at the 3′end of the NFKB2 gene, coding for the C-terminal domain of the protein, were identified in all cases. Better knowledge of DAVID syndrome will help clinicians make an early diagnosis to avoid life-threatening complications.
    • Relation:
      hal-04254098; https://amu.hal.science/hal-04254098; https://amu.hal.science/hal-04254098/document; https://amu.hal.science/hal-04254098/file/2023%20-%20Mac%20-%20Deficient%20anterior%20pituitary%20with%20common%20variable%20immune%20deficiency%20DAVID%20syndrome%20a%20%281%29.pdf
    • الرقم المعرف:
      10.1111/jne.13287
    • الدخول الالكتروني :
      https://amu.hal.science/hal-04254098
      https://amu.hal.science/hal-04254098/document
      https://amu.hal.science/hal-04254098/file/2023%20-%20Mac%20-%20Deficient%20anterior%20pituitary%20with%20common%20variable%20immune%20deficiency%20DAVID%20syndrome%20a%20%281%29.pdf
      https://doi.org/10.1111/jne.13287
    • Rights:
      info:eu-repo/semantics/OpenAccess
    • الرقم المعرف:
      edsbas.E3D558CF