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 75 free, full-text research articles on human participants. First 3 results:

A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia.
 

Author(s): Bixia Zheng, Yayuan Zhang, Yu Jin, Haiguo Yu

Journal:

 

X-linked agammaglobulinemia (XLA) is a rare inherited disease characterized by recurrent bacterial infections, a paucity or absence of peripheral lymphoid tissue, an absence of circulating B cells, and marked depression of serum IgG, IgA, and IgM. Germline mutation of the BTK gene ...

Last Updated: 21 Nov 2014

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Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model.
 

Author(s): Burcu Bestas, Pedro M D Moreno, K Emelie M Blomberg, Dara K Mohammad, Amer F Saleh, Tolga Sutlu, Joel Z Nordin, Peter Guterstam, Manuela O Gustafsson, Shabnam Kharazi, Barbara Piątosa, Thomas C Roberts, Mark A Behlke, Matthew J A Wood, Michael J Gait, Karin E Lundin, Samir El Andaloussi, Robert Månsson, Anna Berglöf, Jesper Wengel, C I Edvard Smith

Journal: J. Clin. Invest.. 2014 Sep;124(9):4067-81.

 

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton's tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development. Here, we assessed the potential ...

Last Updated: 3 Sep 2014

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Tubulointerstitial nephritis complicating IVIG therapy for X-linked agammaglobulinemia.
 

Author(s): Keisuke Sugimoto, Hitomi Nishi, Tomoki Miyazawa, Norihisa Wada, Akane Izu, Takuji Enya, Mitsuru Okada, Tsukasa Takemura

Journal:

 

Patients with X-linked agammaglobulinemia (XLA) develop immune-complex induced diseases such as nephropathy only rarely, presumably because their immunoglobulin (Ig) G concentration is low. We encountered a patient with XLA who developed tubulointerstitial nephritis during treatment ...

Last Updated: 12 Jul 2014

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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 5 free, full-text review articles on human participants. First 3 results:

Splice-correction strategies for treatment of X-linked agammaglobulinemia.
 

Author(s): Burcu Bestas, Janne J Turunen, K Emelie M Blomberg, Qing Wang, Robert Månsson, Samir El Andaloussi, Anna Berglöf, C I Edvard Smith

Journal: Curr Allergy Asthma Rep. 2015 Mar;15(3):510.

 

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). Deficiency of BTK leads to a developmental block in B cell differentiation; hence, the patients essentially lack antibody-producing plasma ...

Last Updated: 2 Feb 2015

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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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Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).
 

Author(s): M Vihinen, P T Mattsson, C I Smith

Journal:

 

X-linked agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine ...

Last Updated: 15 Dec 2000

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pharmacokinetics (PK) and Safety of Subgam®VF in Primary Immunodeficiency Diseases
 

Status: Not yet recruiting

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

 

Last Updated: 5 Jun 2015

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Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia
 

Status: Not yet recruiting

Condition Summary: Agammaglobulinemia, BTK

 

Last Updated: 4 Sep 2014

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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: 9 Dec 2014

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