<\/span><\/h2>\nGamma globulins are also called immunoglobulins<\/span>. They are proteins produced by plasma<\/span> cells and are essential for the body's immune defense system. Agammaglobulinemia means the absence of gamma globulins.<\/p>\n<\/span>What is X-linked agammaglobulinemia?<\/span><\/h2>\nX-linked agammaglobulinemia is hereditary genetic<\/span> disorder first described in 1952 by Dr. Ogden Bruton. It is characterized by the inability of the body to produce mature B-lymphocytes<\/span> and plasma cells. Affected patients have severe deficiencies in all immunoglobulins.<\/p>\nX-linked agammaglobulinemia is also called Bruton's agammaglobulinemia.<\/p>\n
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<\/span>What causes X-linked agammaglobulinemia?<\/span><\/h2>\nX-linked agammaglobulinemia is caused by mutations<\/span> at Bruton's Tyrosine kinase<\/span> (BTK) gene<\/span>, which was discovered in 1993. The gene normally promotes maturation of B lymphocytes. Since the BTK gene is found in the X-chromosome<\/span>, X-linked agammaglobulinemia occurs exclusively in males. Females may have a autosomal<\/span> recessive version of agammaglobulinemia.<\/p>\n\n<\/span>Genetics of X-linked agammaglobulinemia<\/span><\/h5>\n<\/section>\n\n\n
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X-linked agammaglobulinemia<\/p>\n<\/p><\/div>\n<\/section>\n
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* Image courtesy of Genetics 4 Medics<\/p>\n
<\/span>What are the signs and symptoms of X-linked agammaglobulinemia?<\/span><\/h2>\nPatients with X-linked agammaglobulinemia may have:<\/p>\n
\n- Reduced lymphoid<\/span> or reticuloendothelial organs, including the amygdala, lymph nodes<\/span>, spleen, adenoids and intestinal Peyer's patches<\/li>\n
- \nRecurrent<\/span> respiratory infections, including otitis media<\/span>, pneumonia, bronchitis or sinusitis; The most common causes are pneumococcus, strep, and staph.<\/li>\n
- \nChronic<\/span> gastrointestinal symptoms, for example diarrhea due to giardia infections<\/li>\n
- Skin infections<\/li>\n<\/ul>\n
Babies with X-linked agammaglobulinemia appear healthy at first. They begin to have recurrent infections as protection from the mother. antibodies<\/span> undress.<\/p>\n<\/span>What are the risk factors for ax-linked agammaglobulinemia?<\/span><\/h2>\nRisk factors for X-linked agammaglobulinemia include:<\/p>\n
\n- \nSex<\/span>. The disease occurs exclusively in males.<\/li>\n
- Years. The patient usually begins to have symptoms between 6 and 18 months of age.<\/li>\n
- Family history.<\/li>\n
- Race. It seems there is no racial predilection<\/span>.<\/li>\n<\/ul>\n
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<\/span>How is ax-linked agammaglobulinemia diagnosed?<\/span><\/h2>\nX-linked agammaglobulinemia can be diagnosed by:<\/p>\n
\n- Initial evaluation of serum<\/span> immunoglobulins<\/li>\n
- Measurement of B cells in peripheral<\/span> blood, if the initial test reveals low serum immunoglobulins<\/li>\n
- \nMolecular<\/span> parsing, which involves techniques such as single string confirmation polymorphism<\/span>, DNA<\/span> analysis, denaturing gradient gel<\/span> electrophoresis<\/span>or reverse transcriptase polymerase testing in the BTK gene<\/li>\n
- Genetic testing of female relatives of a patient suspected of X-linked agammaglobulinemia<\/li>\n
- \nIn the womb<\/span> test through chorionic villus sampling<\/span> or amniocentesis<\/span>\n<\/li>\n
- Tests at birth to detect a decrease in CD19 B cells and an elevated level of T cells<\/span> by fluorocytometric analysis<\/li>\n<\/ul>\n
<\/span>What is the treatment for ax-linked agammaglobulinemia?<\/span><\/h2>\nThere is no cure for X-linked agammaglobulinemia. However, treatment can greatly improve the quality of life for patients with X-linked agammaglobulinemia.<\/p>\n
\n- Forever immunoglobulin<\/span> replacement therapy, administered intravenously or subcutaneously. This helps replace the antibodies that a patient with X-linked agammaglobulinemia cannot make on their own.<\/li>\n
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Antibiotics, sometimes used prophylactically, to reduce infection<\/span> rates.<\/li>\n- Refraining from live vaccines, including the measles, mumps, and rubella (MMR) vaccine, and polio, rotavirus, and chickenpox vaccines, which can actually cause the diseases they are supposed to prevent.<\/li>\n<\/ul>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 son las gammaglobulinas? Las gammaglobulinas tambi\u00e9n se llaman inmunoglobulinas. Son prote\u00ednas producidas por plasma c\u00e9lulas y son esenciales para el sistema de defensa inmune del cuerpo. Agammaglobulinemia significa la…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-7570","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7570","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=7570"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7570\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=7570"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=7570"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=7570"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}