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: 11 Apr 2016

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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: 11 Apr 2016

View Details

 

General Support Organizations

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General Resources

Barth Syndrome Professional Healthcare Brochure

Important information regarding diagnosis and treatment of Barth syndrome.

Updated 12 Apr 2014

Open Doc
2014 Conference Program

2014 Conference Program

Updated 14 Jan 2015

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How to Diagnose

How to diagnose Barth syndrome

Updated 14 Jan 2015

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Overview of Barth syndrome

Overview of Barth syndrome

Updated 14 Jan 2015

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Barath Syndrome Journal

Newsletter published twice a year.

Updated 15 Mar 2016

Open Doc
 
 
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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 4 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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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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Gamma Globulin Observations and Outcomes Database for Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI)
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorder

 

Last Updated: 12 Sep 2017

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