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agammaglobulinemia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"ORPHA:47","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia\">X-linked agammaglobulinemia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most variants in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell development and leads to a lack of antibodies. Without antibodies, the immune system cannot properly respond to foreign invaders and prevent infection.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked agammaglobulinemia?"},{"bodyHtml":"<p>Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. .cf0{font-style:italic;font-family:Segoe UI;font-size:9pt;}Children with XLA generally take longer to recover from infections, and infections often occur again, even in children who are taking antibiotic medications.</p><p>The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. .cf0{font-style:italic;font-family:Segoe UI;font-size:9pt;}Treatments that replace antibodies can help prevent infections, improving the quality of life for people with XLA.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-agammaglobulinemia","sourceDocuments":[{"name":"X-linked agammaglobulinemia","reviewed":"2023-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:53.881933+00:00","label":"Causes","pageSha256":"139f777db3a846ad4478e628790ff52f3e518e55f62f33c04996b809f2cd6de5","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"X-linked agammaglobulinemia"},"schemaVersion":1}