Ectodermal dysplasia and immunodeficiency.

نویسنده

  • M Abinun
چکیده

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 nature of the association between these two rare conditions is unclear and the question remains as to whether different immune defects in patients with ectodermal dysplasia represent a coincidental association or whether immunodeficiency is an underrecognised feature of the ectodermal dysplasia syndrome. In two recent classifications of primary immunodeficiency disorders ectodermal dysplasia is listed under 'syndromes associated with immunodeficiency'.3 4 MARIO ABINUN Children's Department, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne NE4 6BE

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

سندرم Ectrodactyly– ectodermal dysplasia clefting: گزارش مورد به همراه علائم دهانی

  Objectives: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. This study presents an Iranian case with classic features and oral complications.   Case: We report a 20-year old female with all manifestations of this syndrome. The simultaneous presence of these three malformations is extremely r...

متن کامل

Complications of Implant Rehabilitation in Ectodermal Dysplasia Patients: A Review Study

Background and Aim: Ectodermal dysplasia (ED) is a hereditary disease that affects ectodermal tissues. Its oral manifestations include hypodontia or oligodontia, which cause the reduction of the height and width of the alveolar ridge. Considering numerous difficulties that these patients encounter with regard to facial appearance, talking, and chewing, their rehabilitation has a major influence...

متن کامل

Crohn'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 کامل

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

The Journal of Clinical Investigation | October 2003 | Volume 112 | Number 7 Introduction Patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) present with impaired development of skin appendices, resulting in sparse hair, conical teeth, and anhidrosis/hypohidrosis. Host defense is also impaired, resulting principally in multiple and severe bacterial diseases (1). X-link...

متن کامل

Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene

Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives of disease in childhood

دوره 73 2  شماره 

صفحات  -

تاریخ انتشار 1995