Ectodermal dysplasia and immunodeficiency.
نویسندگان
چکیده
منابع مشابه
Ectodermal dysplasia and immunodeficiency.
EDITOR,-Immunodeficiency has been previously described in patients with ectodermal dysplasial; surprisingly it was not mentioned at all in the recent review article on ectodermal dysplasia in this journal.2 Immunodeficiency is not a constant feature in all patients with ectodermal dysplasia, it is often transient and variable and no consistent T or B cell abnormality has been found.' The exact ...
متن کاملAnhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an im...
متن کاملDiagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibility to pathogens, impaired antibody responses to polysaccharides, hypogammaglobulinemia, hyper-IgM syndrome, impaired natural killer cell cytotoxi...
متن کاملcrohn’s disease and idiopathic thrombocytopenic purpura in a patient with ectodermal dysplasia and immunodeficiency
in this case report we will describe a rare association between anhyrotic ectodermal dysplasia (aed) and immunodeficiency and autoimmunity [in our case: idiopathic thrombocytopenic purpura (itp) and crohn disease]. aed is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. the survey of 87 cases with (aed) revealed only one irrit...
متن کاملCongenital Ectodermal Dysplasia
Two cases of phenotypically similar ectodermal dysplasia characterised by reduction of hair, diminished sweat pores, missing teeth and somewhat cracked and abnormal skin were studied to understand the genetic basis of this disorder with the help of pedigrees. The mode of inheritance in one case was suggested to be x-linked where as in the other case it was autosomal recessive. (JPMA 35 225, 1985).
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1995
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.73.2.185