Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome

Cuperus, Edwin; Montfrans, Joris M. van; Gijn, Mariëlle van; Bastiaens, Maarten T.; Willigen, Mirjam Ma De; Leguit, Roos J.; Brijnzeel-Koomen, C. A. F. M.; Russel, I. M. B.; Pasmans, Suzanne G.M.A.

doi:10.1684/ejd.2017.2992

Cited by 10 publications

(10 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our patients eventually developed heterogeneous clinical presentations. Pt5 had severe scaly erythematous skin from birth and was initially suspected to have congenital Ichthyosis but diagnosed with in-utero Omenn syndrome (36). In addition to massive skin erythrodermia, Pt5 displayed other clinical features of Omenn syndrome including lymphadenopathy and organomegaly.…”

Section: Resultsmentioning

confidence: 99%

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

et al. 2019

View full text Add to dashboard Cite

The alpha subunit of IL-7 receptor (IL7R7α) is critical for the differentiation of T cells, specifically for the development and maintenance of γδT cells. Mutations in IL7RA are associated with Severe Combined Immunodeficiency (SCID). Infants with IL7RA deficiency can be identified through newborn screening program. We aimed at defining the immunological and genetic parameters that are directly affected by the IL7RA mutation on the immune system of five unrelated patients which were identified by our newborn screening program for SCID. The patients were found to have a novel identical homozygote mutation in IL7RA (n.c.120 C>G; p.F40L). Both surface expression of IL7Rα and functionality of IL-7 signaling were impaired in patients compared to controls. Structural modeling demonstrated instability of the protein structure due to the mutation. Lastly the TRG immune repertoire of the patients showed reduced diversity, increased clonality and differential CDR3 characteristics. Interestingly, the patients displayed significant different clinical outcome with two displaying severe clinical picture of immunodeficiency and three had spontaneous recovery. Our data supports that the presented IL7RA mutation affects the IL-7 signaling and shaping of the TRG repertoire, reinforcing the role of IL7RA in the immune system, while non-genetic factors may exist that attribute to the ultimate clinical presentation and disease progression.

show abstract

Section: Resultsmentioning

confidence: 99%

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Another rash can be caused by the transplacental migration of maternal T cells causing a graft‐vs‐host reaction, as an infant with SCID is unable to mount a response to reject these cells . Similar, and often more severe, exanthema can be seen in Omenn syndrome, often mimicking bullous skin disorders …”

Section: Resultsmentioning

confidence: 99%

An overview of how on‐call consultant paediatricians can recognise and manage severe primary immunodeficiencies

et al. 2019

View full text Add to dashboard Cite

Severe primary paediatric immunodeficiency syndromes are rare and potentially fatal unless suspected, diagnosed and treated early. We provide clinical guidance and support for on‐call consultant paediatricians working in secondary level hospitals on how to recognise and manage children with these conditions. Our paper addresses four conditions that risk the most severe outcomes if they are not adequately cared for during on‐call periods, such as weekends: severe combined immunodeficiency, haemophagocytic lymphohistiocytosis, severe congenital neutropaenia and chronic granulomatous disease. Conclusion On‐call paediatricians are provided with advice on handling the most severe primary immunodeficiencies.

show abstract

“…Table 1 Next generation sequencing outcome of (likely) pathogenic mutations in nine prospective (1)(2)(3)(4)(5)(6)(7)(8)(9) and eight retrospective (10-17) patients with neonatal erythroderma.…”

Section: Clinical Lettermentioning

confidence: 99%

Diagnostic next generation sequencing in neonatal erythroderma

Cuperus

Sigurdsson

Akker

et al. 2020

J Deutsche Derma Gesell

Self Cite

View full text Add to dashboard Cite

Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome

Cited by 10 publications

References 6 publications

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

An overview of how on‐call consultant paediatricians can recognise and manage severe primary immunodeficiencies

Diagnostic next generation sequencing in neonatal erythroderma

Contact Info

Product

Resources

About