Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia

Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia

Copyright © 2022 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 235(2022) vom: 02. Feb., Seite 108930
1. Verfasser: Almutairi, Abduarahman (VerfasserIn)
Weitere Verfasser: Amin, Maha M, Rashwan, Mohamed A M, Elnagdy, Marwa H, Rizk, Ragheed, Bahgat, Sara A, Platt, Craig D, Sobh, Ali
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2022
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article DITRA Generalized pustular psoriasis Hypogammaglobulinemia IL-36RA SEC61A1 IL36RN protein, human Interleukins SEC Translocation Channels SEC61A1 protein, human
Beschreibung
Zusammenfassung:Copyright © 2022 Elsevier Inc. All rights reserved.
We report a female patient presenting with generalized pustular psoriasis and hypogammaglobulinemia due to digenic mutations in IL-36RA and SEC61A1. The patient presented with recurrent fevers, elevated inflammatory markers, hepatosplenomegaly, and recurrent sinopulmonary infections in the context of hypogammaglobulinemia which improved on immunoglobulin replacement. This report demonstrates how digenic inheritance leads to complex phenotypes, and illustrates the importance of following an unbiased approach to identifying variants, especially in patients with atypical clinical presentations
Beschreibung:Date Completed 23.02.2022
Date Revised 29.04.2022
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2022.108930