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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

Last Updated: 27 Aug 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

http://www.primaryimmune.org

Last Updated: 27 Aug 2015

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

The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement.
 

Author(s): Filomena Monica Cavaliere, Alessandro Prezzo, Caterina Bilotta, Metello Iacobini, Isabella Quinti

Journal:

 

The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this study, we show that XLA patients had an increased frequency of the intermediate monocytes subset and that BTK-deficient monocytes ...

Last Updated: 31 Dec 1969

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Pseudomonas aeruginosa Liver Abscess as the First Manifestation of X-Linked Agammaglobulinemia With a Novel Mutation.
 

Author(s): M A Muñoz-Miguelsanz, T Álvarez Morales, J A Martín García, M Martínez Gallo, J L Santos Pérez

Journal: J Investig Allergol Clin Immunol. ;27(2):129-131.

 

Last Updated: 31 Dec 1969

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Gastrointestinal Manifestations in X-linked Agammaglobulinemia.
 

Author(s): Sara Barmettler, Iris M Otani, Jasmit Minhas, Roshini S Abraham, Yenhui Chang, Morna J Dorsey, Zuhair K Ballas, Francisco A Bonilla, Hans D Ochs, Jolan E Walter

Journal: J. Clin. Immunol.. 2017 Apr;37(3):287-294.

 

X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum ...

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 "X-linked agammaglobulinemia" returned 4 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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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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 Disorders; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

 

Last Updated: 17 Nov 2017

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