Immune Deficiency Disorder

Common Name(s)

Immune Deficiency Disorder

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Immune Deficiency Disorder" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

Last Updated: 1 Nov 2014

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Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Last Updated: 21 Feb 2018

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Immune Deficiency Disorder" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

http://www.dcoutreach.com

Last Updated: 1 Nov 2014

View Details
Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

https://www.barthsyndrome.org

Last Updated: 21 Feb 2018

View Details

 

General Support Organizations

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General Resources

Professional Healthcare Brochure

Educational brochure for families and clinicans

Updated 21 Feb 2018

Open Doc
2016 Conference Program

Agenda for BSF's 2016 conference

Updated 21 Feb 2018

Open Doc
How to Diagnose Barth Syndrome

How to diagnose Barth syndrome

Updated 21 Feb 2018

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Overview of Barth Syndrome

Overview of Barth syndrome

Updated 21 Feb 2018

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Immune Deficiency Disorder" returned 3 free, full-text research articles on human participants. First 3 results:

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
 

Author(s): Louis-Marie Charbonnier, Erin Janssen, Janet Chou, Toshiro K Ohsumi, Sevgi Keles, Joyce T Hsu, Michel J Massaad, Maria Garcia-Lloret, Rima Hanna-Wakim, Ghassan Dbaibo, Abdullah A Alangari, Abdulrahman Alsultan, Daifulah Al-Zahrani, Raif S Geha, Talal A Chatila

Journal: J. Allergy Clin. Immunol.. 2015 Jan;135(1):217-27.

 

A number of heritable immune dysregulatory diseases result from defects affecting regulatory T (Treg) cell development, function, or both. They include immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused by mutations in forkhead box P3 ...

Last Updated: 31 Dec 1969

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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
 

Author(s): J Zonana, M E Elder, L C Schneider, S J Orlow, C Moss, M Golabi, S K Shapira, P A Farndon, D W Wara, S A Emmal, B M Ferguson

Journal: Am. J. Hum. Genet.. 2000 Dec;67(6):1555-62.

 

Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four families with HED and immunodeficiency ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Immune Deficiency Disorder" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Intensive Care Unit and Secondary and Primary Immune Deficiency
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorder

 

Last Updated: 16 Aug 2017

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Primary Immunodeficiency in Kuwait
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorder

 

Last Updated: 3 Aug 2018

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A Study About Low Blood Pressure in Patients With Primary Immunodeficiency Disease Treated With Immune Globulin Products
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorder

 

Last Updated: 11 Jul 2017

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