P419 - LE SYNDROME d’OMENN, à propos d’une observation révélée par une érythrodermie néonatale, intérêt d’un diagnostic précoce

Taghian, Mehdi; Paupard, Thierry; Girardin, P.; Coupé, Bérengère; Haghiri, N.; Baumann, Fabian; Theuriet, L.; Puzenat, E.

doi:10.1016/s0929-693x(10)70813-7

Cited by 1 publication

(2 citation statements)

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“…The main biological abnormalities are spinal and blood eosinophilia, hypergammaglobulinemia E, an increase in circulating HLA lymphocytes Dr + and CD 25 +, and hypogammaglobulinemia related to a deficiency in B lymphocytes. The treatment consists of a marrow transplant [2,3]. Omenn syndrome can be caused by a mutation of the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p [3].…”

Section: Introductionmentioning

confidence: 99%

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Omenn syndrome: the drama of a family, congenital ichthyosis is not always mundane!

Bouhmidi,

Hajar,

Ghannam

et al. 2023

jidhealth

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Background: The case we are reporting is about one of the rare manifestations of severe combined immunodeficiency, Omenn syndrome (OS). Case presentation: A 43-days-old female presented with thick diffuse erythrodermic scaly ichthyosiform lesions on the scalp, face, and trunk since birth. lymphadenopathy, splenomegaly, and growth retardation as well as eosinophilia and increased serum IgE levels. A pregnancy was planned for an allograft of bone marrow, but the procedure was not carried out due to a persistent post-covid pneumopathy with bilateral parenchymal condensation that resulted in death. Conclusion: This case report intends to incite clinicians to be alert to this possible diagnosis and not to underrate an immune deficiency in the case of neonatal erythroderma.

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Section: Introductionmentioning

confidence: 99%

“…The treatment consists of a marrow transplant [2,3]. Omenn syndrome can be caused by a mutation of the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p [3].…”

Section: Introductionmentioning

confidence: 99%