Agammaglobulinemia, Non-Bruton Type

Common Name(s)

Agammaglobulinemia, Non-Bruton Type

Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; {300755}), also known as Bruton disease, which is caused by mutation in the BTK gene ({300300}). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings ({4:Lopez Granados et al., 2002}; {3:Ferrari et al., 2007}). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia ({3:Ferrari et al., 2007}). {1:Conley (1999)} gave a comprehensive review of autosomal recessive agammaglobulinemia. Genetic Heterogeneity of Autosomal Agammaglobulinemia Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 ({613500}), caused by mutation in the IGLL1 gene ({146770}); AGM3 ({613501}), caused by mutation in the CD79A gene ({112205}); AGM4 ({613502}), caused by mutation in the BLNK gene ({604515}); AGM5 ({613506}), caused by disruption of the LRRC8 gene ({608360}); AGM6 ({612692}), caused by mutation in the CD79B gene ({147245}); and AGM7 ({615214}), caused by mutation in the PIK3R1 gene ({171833}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Agammaglobulinemia, Non-Bruton Type" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Reviews from the PubMed Database

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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