{"id":86,"date":"2011-01-20T20:12:54","date_gmt":"2011-01-20T20:12:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=86"},"modified":"2026-02-22T00:44:38","modified_gmt":"2026-02-22T00:44:38","slug":"genotype-phenotype-study-of-familial-hemophagocytic-lymphohistiocytosis-type-3","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/20\/genotype-phenotype-study-of-familial-hemophagocytic-lymphohistiocytosis-type-3\/","title":{"rendered":"GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3 (Contributed by Dr. Maurizio Aric\u00f2)"},"content":{"rendered":"

Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare immunodeficiency causing insufficient defence of the child or infant from infections, through defective killing of virus-infected and stimulating dendritic cells. The clinical picture resembles leukemia; final diagnosis comes from specific immune tests and mutation analysis. Among FHL-related genes recognized since 1999, UNC13D is responsible for a wide proportion of cases (FHL-3), up to 40% in some European countries. Accumulation of sufficient cases allows to understand different clinical manifestations of FHL and correlate them to different mutations. This may have implications for identification of patients with atypical pictures or late onset.\u00a0\u00a0 (http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/19\/jmg.2010.085456<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare immunodeficiency causing insufficient defence of the child or infant from infections, through defective killing of virus-infected and stimulating dendritic cells. The clinical picture resembles leukemia; final diagnosis comes from specific immune tests and mutation analysis. Among FHL-related genes recognized since 1999, UNC13D is responsible for a wide proportion […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-86","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nGENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3 (Contributed by Dr. Maurizio Aric\u00f2) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/20\/genotype-phenotype-study-of-familial-hemophagocytic-lymphohistiocytosis-type-3\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3 (Contributed by Dr. Maurizio Aric\u00f2) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare immunodeficiency causing insufficient defence of the child or infant from infections, through defective killing of virus-infected and stimulating dendritic cells. The clinical picture resembles leukemia; final diagnosis comes from specific immune tests and mutation analysis. 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3 (Contributed by Dr. Maurizio Aric\u00f2) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/20\/genotype-phenotype-study-of-familial-hemophagocytic-lymphohistiocytosis-type-3\/","og_locale":"en_US","og_type":"article","og_title":"GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3 (Contributed by Dr. Maurizio Aric\u00f2) - JMG Contact blog","og_description":"Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare immunodeficiency causing insufficient defence of the child or infant from infections, through defective killing of virus-infected and stimulating dendritic cells. 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