An unusual case of severe combined immunodeficiency with hypereosinophilia

Dams, E.T.M.; Mascart‐Lemone, F.; Schandené, Liliane; Meer, J.W.M. van der

doi:10.1046/j.1365-2796.1997.00199.x

Cited by 3 publications

(2 citation statements)

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“…IgE level was elevated up to 22 000 IU mL −1 . Immunological tests showed a defective cellular immunity with negative skin tests for recall antigens, as presented earlier in detail [6]. Genetic testing for the Rag1 and 2 mutations of Omenn syndrome [7] appeared negative.…”

Section: Case Reportsmentioning

confidence: 72%

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Critical aneurysmal dilatation of the thoracic aorta in young adolescents with variant hyperimmunoglobulin E syndrome

Meer

Weemaes

Krieken

et al. 2006

Journal of Internal Medicine

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The autosomal-dominant (AD) form of the hyperimmunoglobulin E syndrome (HIES) has been described as a multisystem disorder including immune, skeletal and dental abnormalities. Recently, the evaluation of patients from families in which HIES was inherited in a manner more consistent with autosomal-recessive (AR) inheritance, showed that AR-HIES is a clinically distinct disease entity. In addition to classical immunologic findings of AD-HIES, the AR form presents with severe recurrent fungal and viral infections with herpes zoster, herpes simplex and characteristic mollusca contagiosa. Furthermore, cerebral vascular sequelae, including vasculitis, infarction and haemorrhage were noted. In this report, we describe the clinical picture of two patients who showed remarkable resemblance to the description of AR-HIES, but also developed fatal aneurysmal dilatation of the thoracic aorta in adolescence. This finding may further consummate the clinical picture of AR-HIES and emphasize the possibility to develop early aortitis, most likely preceding the critical aneurysm formation at older age. This process should be anticipated during childhood in cases with AR-HIES.

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Section: Case Reportsmentioning

confidence: 72%

“…Moreover, patient B exhibited extreme eosinophilia (up to 50 000 per dL), whereas eosinophil numbers reported in AR‐HIES were not exceeding 17 874. This was one reason to publish this case under the diagnosis of Omenn‐like syndrome [6].…”

Section: Discussionmentioning

confidence: 99%