Open AccessClinical case of proteasome-associated autoinflammatory syndrome-2 (PRAAS2)
Author(s) -
А. И. Терентьева,
Е. А. Викторова,
В. В. Захарова,
Д. В. Коновалов,
V.I. Burlakov,
Ю. А. Родина,
Natalia Kuzmenko,
Е. В. Райкина,
A. Kozlova
Publication year - 2019
Publication title -
voprosy gematologii/onkologii i immunopatologii v pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 3
eISSN - 2414-9314
pISSN - 1726-1708
DOI - 10.24287/1726-1708-2019-18-2-108-113
Subject(s) - pathogenesis , proteasome , medicine , bioinformatics , dermatology , genetics , pathology , biology
This article describes clinical case of a child with proteasome-associated autoinflammatory syndrome-2 (PRAAS2). First two cases in unrelated boys were described in July, 2018 by M. Cecilia Poli, Frederic Ebstein. We describe another case of PRAAS2. Mutations of the POMP-gene underlie PRAAS2 pathogenesis, causing defects of the POMP protein which plays important role in proteasomes maturation and leads to the clinical symptoms observed in three described cases. We also provide a short PRAAS2 background description, as well as key pathogenesis components, clinical findings description and analysis of three known PRAAS2 cases. Parents gave their consent to use personal data, including photos for clinical research and publications.