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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0971005/OMIM:209920"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. 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People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>BLS II is caused by mutations in the CIITA, RFX5, RFXANK, or RFXAP gene. Each of these genes provides instructions for making a protein that plays a role in controlling the activity (transcription) of genes called MHC class II genes. Transcription is the first step in the production of proteins, and the CIITA, RFX5, RFXANK, and RFXAP proteins are critical for the production of MHC class II proteins from these genes.</p><p>The RFX5, RFXANK, and RFXAP proteins come together to form the regulatory factor X (RFX) complex, which attaches (binds) to specific regions of DNA involved in the regulation of MHC class II gene activity. The CIITA protein interacts with the RFX complex and brings together other proteins that turn on gene transcription, leading to the production of MHC class II proteins.</p><p>MHC class II proteins play an important role in the body&#x27;s immune response to foreign invaders, such as bacteria, viruses, and fungi. To help the body recognize and fight infections, MHC class II proteins on lymphocytes bind to fragments of proteins (peptides) from foreign invaders so that other specialized immune system cells can interact with them. When these immune system cells recognize the peptides as harmful, they trigger the lymphocytes to launch immune responses to get rid of the foreign invaders.</p><p>Mutations in the CIITA, RFX5, RFXANK, or RFXAP gene prevent transcription of MHC class II genes, which leads to an absence of MHC class II proteins on the surface of certain lymphocytes. Lack of these proteins on lymphocytes impairs the body&#x27;s immune response to bacteria, viruses, and fungi, leading to persistent infections in individuals with BLS II syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-ii/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Bare lymphocyte syndrome type II?"},{"bodyHtml":"<p>BLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.</p><p>In people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-ii\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"bare-lymphocyte-syndrome-type-ii","sourceDocuments":[{"name":"Bare lymphocyte syndrome type II","reviewed":"2017-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:45.878567+00:00","label":"Causes","pageSha256":"473079c59693d7b0dcba31e88d7bc96503a688dcbb6868bf36cb5f92af4a4512","sourceUrl":"https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-ii/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-ii"}],"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":"Bare lymphocyte syndrome type II"},"schemaVersion":1}