Treatment of Netherton Syndrome With Dupilumab

Steuer, Alexa B.; Cohen, David E.

doi:10.1001/jamadermatol.2019.4608

Cited by 47 publications

(44 citation statements)

References 5 publications

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“…Dupilumab is a human IgG4 monoclonal antibody that has resulted in positive outcomes in the treatment of AD. It suppresses the effect of cytokines IL‐4 and IL‐13 via targeting of the IL‐4 receptor alpha chain 4 . Increased production of IL‐4, IL‐5, IL‐13, and TNF‐alpha by Th2 pro‐allergen cells, which are promoted by the KLK5‐PAR‐2‐TSLP cascade in NS, might explain the efficacy of dupilumab in patients with NS 2 .…”

Section: Discussionmentioning

confidence: 99%

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Netherton syndrome: Temporary response to dupilumab

Aktaş

Salman

Sengun

et al. 2020

Pediatric Dermatology

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Netherton syndrome (NS) is an orphan disease characterized by congenital ichthyosis, hair abnormalities, and atopy, with limited treatment options. We achieved temporary improvement only during the initial 6 weeks of treatment with dupilumab, which differs from the sustained improvement observed in 2 other recently published cases. Although the clinical presentation of atopy and increased pre-allergic cytokines in NS patients suggest that dupilumab may be beneficial, larger studies are required.

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Section: Discussionmentioning

confidence: 99%

“…In both these cases, dupilumab led to sustained improvement, unlike the temporary response observed in our patient (Table 1). 4,5 …”

Section: Discussionmentioning

confidence: 99%

Netherton syndrome: Temporary response to dupilumab

Aktaş

Salman

Sengun

et al. 2020

Pediatric Dermatology

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“…Our case report supports that IL‐4 receptor antagonism may dramatically reduce cutaneous inflammation in NS 1 . However, the levels of IL‐13, a prominent Th2 cytokine, in skin and blood were similar in patients with NS and healthy controls in recent studies 2,3 .…”

Section: Figurementioning

confidence: 92%

Successful treatment with dupilumab of an adult with Netherton syndrome

et al. 2020

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“…The lesser epidermal permeation in comparison with tacrolimus may offer an added advantage in patients with NS (Oji et al, 2005; Saif & Al‐Khenaizan, 2007). Biologics targeting IL4/IL13 (Dupilumab) (Steuer & Cohen, 2020), IL23 (Ustekinumab) (Volc et al, 2020), IL17 (Secukinuma, Ixekimab) (Claire et al, 2020; Luchsinger et al, 2020), and TNF‐α (Infliximab) (Fontao et al, 2020) have been reported as effective in some patients with NS. Treatment with IVIG was beneficial in seven patients with NS to date, although its immunomodulatory mechanisms are not understood (Renner et al, 2009; Small & Cordoro, 2016).…”

Section: Discussionmentioning

confidence: 99%

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin

Zhang

Pan

Wei

et al. 2021

Molec Gen & Gen Med

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Background Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene. Here, we report the first case of NS caused by a large genomic deletion. Methods We present the clinical data of a 3‐year‐old Chinese boy who was initially misdiagnosed with severe atopic dermatitis. Subsequently, the patient presented with typical ichthyosis linearis circumflexa and had representative hair shaft of trichorrhexis invaginate, which alerted the physician of the high possibility of NS. A genomic DNA sample was extracted from peripheral blood and whole‐exome sequencing (WES) was performed. Sanger sequencing and quantitative real‐time polymerase chain reaction (qRT‐PCR) were performed to verify the mutation and genomic deletion, respectively, in the pedigree. Results WES revealed compound heterozygous mutations in SPINK5, including a c.80A>G mutation and a ~275 Kb‐sized genomic deletion (chr5:147443576‐147719312). The c.80A>G mutation was verified by Sanger sequencing in the pedigree. The father had the same heterozygous mutation; however, the mutation was absent in the proband's mother. The qRT‐PCR results identified a large deletion (chr5:147444834‐147445034) in SPINK5 in the proband and his mother. The eruptions improved remarkably after intravenous immunoglobulin (IVIG) therapy. Conclusions This is the first observation of NS caused by a large deletion. Our findings have important implications for mutation screening and genetic counseling in NS. Our report also verifies and supports the safety and efficacy of IVIG therapy in patients with NS.

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Treatment of Netherton Syndrome With Dupilumab

Cited by 47 publications

References 5 publications

Netherton syndrome: Temporary response to dupilumab

Netherton syndrome: Temporary response to dupilumab

Successful treatment with dupilumab of an adult with Netherton syndrome

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin

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