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
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245 1 0 |a Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia 
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520 |a 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 
650 4 |a Case Reports 
650 4 |a Journal Article 
650 4 |a DITRA 
650 4 |a Generalized pustular psoriasis 
650 4 |a Hypogammaglobulinemia 
650 4 |a IL-36RA 
650 4 |a SEC61A1 
650 7 |a IL36RN protein, human  |2 NLM 
650 7 |a Interleukins  |2 NLM 
650 7 |a SEC Translocation Channels  |2 NLM 
650 7 |a SEC61A1 protein, human  |2 NLM 
700 1 |a Amin, Maha M  |e verfasserin  |4 aut 
700 1 |a Rashwan, Mohamed A M  |e verfasserin  |4 aut 
700 1 |a Elnagdy, Marwa H  |e verfasserin  |4 aut 
700 1 |a Rizk, Ragheed  |e verfasserin  |4 aut 
700 1 |a Bahgat, Sara A  |e verfasserin  |4 aut 
700 1 |a Platt, Craig D  |e verfasserin  |4 aut 
700 1 |a Sobh, Ali  |e verfasserin  |4 aut 
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