Sjælden immundefekt bag svær atopisk dermatitis i barnealderen

Helene Mygind Wolsk; Hanne V Marquart; Bodil Laub; Robert Gniadecki; Karsten Nysom; Marianne Ifversen

Sjælden immundefekt bag svær atopisk dermatitis i barnealderen

Translated title of the contribution: Severe atopic dermatitis caused by rare immunodeficiency in childhood

Helene Mygind Wolsk, Hanne V Marquart, Bodil Laub, Robert Gniadecki, Karsten Nysom, Marianne Ifversen

Abstract

Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need of awareness of primary immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections.

Translated title of the contribution	Severe atopic dermatitis caused by rare immunodeficiency in childhood
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	177
Issue number	51
Pages (from-to)	V06150498
ISSN	0041-5782
Publication status	Published - 14 Dec 2015

Cite this

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title = "Sj{\ae}lden immundefekt bag sv{\ae}r atopisk dermatitis i barnealderen",

abstract = "Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need of awareness of primary immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections.",

author = "Wolsk, \{Helene Mygind\} and Marquart, \{Hanne V\} and Bodil Laub and Robert Gniadecki and Karsten Nysom and Marianne Ifversen",

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T1 - Sjælden immundefekt bag svær atopisk dermatitis i barnealderen

AU - Wolsk, Helene Mygind

AU - Marquart, Hanne V

AU - Laub, Bodil

AU - Gniadecki, Robert

AU - Nysom, Karsten

AU - Ifversen, Marianne

PY - 2015/12/14

Y1 - 2015/12/14

N2 - Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need of awareness of primary immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections.

AB - Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need of awareness of primary immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections.

UR - https://www.scopus.com/pages/publications/85038227532

M3 - Tidsskriftartikel

C2 - 26692033

SN - 0041-5782

VL - 177

SP - V06150498

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 51

ER -

Sjælden immundefekt bag svær atopisk dermatitis i barnealderen

Abstract

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