X-linked agammaglobulinemia

Common Name(s)

X-linked agammaglobulinemia

X-linked agammaglobulinema is a genetic condition that affects the immune system and occurs almost exclusively in males. Affected individuals have very few B cells in the body, which produce antibodies called immunoglobulins that help protect the body against infection. Those with this condition are more susceptible to infections because their body makes very few of these antibodies.This condition is inherited in an X-linked recessive pattern and is caused by mutations in the BTK gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked agammaglobulinemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "X-linked agammaglobulinemia" returned 71 free, full-text research articles on human participants. First 3 results:

A novel Bruton's tyrosine kinase gene (BTK) invariant splice site mutation in a Malaysian family with X-linked agammaglobulinemia.
 

Author(s): Chai Teng Chear, Harvindar Kaur Gill, Nazatul Haslina Ramly, Jasbir Singh Dhaliwal, Noraini Bujang, Adiratna Mat Ripen, Saharuddin Bin Mohamad

Journal: Asian Pac. J. Allergy Immunol.. 2013 Dec;31(4):320-4.

 

X-linked agammaglobulinemia (XLA) is a rare genetic disorder caused by mutations in the Bruton's tyrosine kinase (BTK) gene. These mutations cause defects in early B cell development. A patient with no circulating B cells and low serum immunoglobulin isotypes was studied as were his ...

Last Updated: 3 Jan 2014

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Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993.
 

Author(s): Satoshi Tsukada, Douglas C Saffran, David J Rawlings, Ornella Parolini, R Cutler Allen, Ivana Klisak, Robert S Sparkes, Hiromi Kubagawa, Thuluvancheri Mohandas, Shirley Quan, John W Belmont, Max D Cooper, Mary Ellen Conley, Owen N Witte

Journal: J. Immunol.. 2012 Apr;188(7):2936-47.

 

Last Updated: 23 Mar 2012

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Last Updated: 23 Mar 2012

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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 "X-linked agammaglobulinemia" returned 2 free, full-text review articles on human participants. First 3 results:

Campylobacter jejuni bacteremia and Helicobacter pylori in a patient with X-linked agammaglobulinemia.
 

Author(s): T van den Bruele, P E C Mourad-Baars, E C J Claas, R N van der Plas, E J Kuijper, R G M Bredius

Journal: Eur. J. Clin. Microbiol. Infect. Dis.. 2010 Nov;29(11):1315-9.

 

We describe a 15-year-old patient with X-linked agammaglobulinemia who developed malabsorption and bacteremia due to infection of Helicobacter pylori and Campylobacter jejuni. The Campylobacter bacteremia was only recognized after subculturing of blood culture bottles that failed ...

Last Updated: 26 Oct 2010

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Recent advances in the diagnosis of X-linked agammaglobulinemia.
 

Author(s): S Nonoyama

Journal: Intern. Med.. 1999 Sep;38(9):687-8.

 

Last Updated: 19 Oct 1999

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Immune Disorder HSCT Protocol
 

Status: Recruiting

Condition Summary: Immune Deficiency Disorders:; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorder:; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

 

Last Updated: 16 Apr 2014

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Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorders; Common Variable Immunodeficiency; X-linked Agammaglobulinaemia; Hyper-IgM Syndrome

 

Last Updated: 15 Jul 2014

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Natural History Study of SCID Disorders
 

Status: Recruiting

Condition Summary: SCID; Leaky SCID; Omenn Syndrome; Reticular Dysgenesis; ADA Deficiency; XSCID

 

Last Updated: 11 Jun 2014

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