A novel genomic inversion in Wiskott-Aldrich–associated autoinflammation

Immacolata Brigida,Samantha Scaramuzza,Dejan Lazarevic,Davide Cittaro,Francesca Ferrua,Lorena Leonardelli,Maria Alessio,Ornella Forma,Chiara Lanzani,Gianluca Viarengo,Fabio Ciceri,Momcilo Jankovic,Fernando Pesce,Alessandro Aiuti,Maria Pia Cicalese

doi:10.1016/j.jaci.2016.03.007

Abstract

A novel genomic inversion in Wiskott-Aldrich–associated autoinflammation

Highlights

We describe a patient with Wiskott-Aldrich syndrome (WAS) with a peculiar large genomic inversion presenting with multiple manifestations of immune dysregulation, in whom autoinflammatory manifestations improved after the use of anakinra (IL-1 receptor antagonist, Kineret)
When the patient was referred to our center, he was on adalimumab and low-dose CCS with a good control of bowel disease, but still showed severe manifestations of pyoderma gangrenosum (PG) on the upper limbs and in the perianal area (Fig 1, A; see Table E2 in this article’s Online Repository at www.jacionline.org)
FOR REV FOR REV FOR REV FOR REVPCR cycles 948C 3 min, 948C 30 s, 54.68C 30 s, 728C 1 min 3 40 cycles, 728C 10 min 948C 3 min, 948C 30 s, 54.68C 30 s, 728C 1 min 3 40 cycles, 728C 10 min 948C 3 min, 948C 30 s, 55.88C 30 s, 728C 1 min 3 40 cycles, 728C 10 min 948C 3 min, 948C 30 s, 55.88C 30 s, 728C 1 min 3 40 cycles, 728C 10 min

Summary

Predicted inversion

When the patient was referred to our center, he was on adalimumab and low-dose CCS with a good control of bowel disease, but still showed severe manifestations of PG on the upper limbs and in the perianal area (Fig 1, A; see Table E2 in this article’s Online Repository at www.jacionline.org). His parents signed informed consent for research investigations (protocol Tiget[06]). The rest of the authors declare that they have no relevant conflicts of interest

No Partial Yes

Findings

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