{"id":60114,"date":"2023-08-24T10:58:51","date_gmt":"2023-08-24T01:58:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60114"},"modified":"2026-05-08T11:45:12","modified_gmt":"2026-05-08T02:45:12","slug":"primary-immunodeficiency-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-immunodeficiency-syndrome\/","title":{"rendered":"\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u88f8\u30ea\u30f3\u30d1\u7403\u75c7\u5019\u7fa4\uff08BLS II\uff09\u306f\u3001\u4e3b\u8981\u7d44\u7e54\u9069\u5408\u907a\u4f1d\u5b50\u8907\u5408\u4f53\u30af\u30e9\u30b9II\uff08MHC-II\uff09\u306e\u767a\u73fe\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u91cd\u7be4\u306a\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001BLS II\u306e\u539f\u56e0\u3068\u306a\u308bCIITA\u907a\u4f1d\u5b50\u5909\u7570\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u306e\u5f79\u5272\u3068\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u3092\u542b\u3080\u6cbb\u7642\u6226\u7565\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u77e5\u898b\u3092\u63d0\u4f9b\u3057\u3001\u65e9\u671f\u8a3a\u65ad\u306e\u91cd\u8981\u6027\u3092\u5f37\u8abf\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>CIITA\uff5cBare Lymphocyte Syndrome (CIITA-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u88f8\u30ea\u30f3\u30d1\u7403\u75c7\u5019\u7fa4\uff08Bare Lymphocyte Syndrome, BLS\uff09\u306f\u3001\u4e3b\u8981\u7d44\u7e54\u9069\u5408\u907a\u4f1d\u5b50\u8907\u5408\u4f53\u30af\u30e9\u30b9II\uff08MHC-II\uff09\u306e\u767a\u73fe\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5148\u5929\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u3067\u3042\u308b\u3002\u7279\u306bBLS II\u306f\u3001MHC-II\u907a\u4f1d\u5b50\u306e\u8ee2\u5199\u3092\u5236\u5fa1\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u3001\u6297\u539f\u63d0\u793a\u7d30\u80de\uff08APC\uff09\u306b\u304a\u3051\u308bMHC-II\u5206\u5b50\u306e\u6b20\u5982\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u3053\u306e\u75be\u60a3\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u306f\u3001CIITA\uff08\u30af\u30e9\u30b9II\u30c8\u30e9\u30f3\u30b9\u30a2\u30af\u30c1\u30d9\u30fc\u30bf\u30fc\uff09\u907a\u4f1d\u5b50\u3001\u307e\u305f\u306fRFX5\u3001RFXANK\u3001RFXAP\u3068\u3044\u3063\u305f\u8ee2\u5199\u56e0\u5b50\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3042\u308b\u3002CIITA\u5909\u7570\u306b\u3088\u308bBLS II\u306f\u5168\u75c7\u4f8b\u306e\u7d049%\u3092\u5360\u3081\u3001\u7279\u306b\u514d\u75ab\u5fdc\u7b54\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3002<\/p>\n\n\n\n<p>BLS II\u306e\u60a3\u8005\u306f\u3001\u751f\u5f8c\u65e9\u671f\u304b\u3089\u91cd\u7be4\u306a\u7d30\u83cc\u30fb\u30a6\u30a4\u30eb\u30b9\u30fb\u771f\u83cc\u30fb\u5bc4\u751f\u866b\u611f\u67d3\u75c7\u306b\u7f79\u60a3\u3057\u3084\u3059\u304f\u3001\u4e3b\u306b\u6d88\u5316\u7ba1\u304a\u3088\u3073\u547c\u5438\u5668\u7cfb\u306e\u611f\u67d3\u304c\u983b\u767a\u3059\u308b\u3002\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u7570\u5e38\u3084T\u30ea\u30f3\u30d1\u7403\u306e\u7570\u5e38\u3082\u8a8d\u3081\u3089\u308c\u3001\u75be\u60a3\u306e\u9032\u884c\u306b\u4f34\u3044\u3001\u6210\u9577\u969c\u5bb3\u3084\u795e\u7d4c\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u4e88\u5f8c\u4e0d\u826f\u3067\u3042\u308a\u3001\u6839\u6cbb\u7684\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u8003\u3048\u3089\u308c\u308b\u304c\u3001\u9069\u5207\u306a\u30c9\u30ca\u30fc\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u96e3\u3057\u304f\u3001\u307e\u305f\u79fb\u690d\u5f8c\u306e\u514d\u75ab\u518d\u69cb\u7bc9\u304c\u9045\u5ef6\u3059\u308b\u50be\u5411\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>BLS II\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u5168\u4e16\u754c\u3067\u7d04200\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u7279\u306b\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u5730\u57df\uff08\u5317\u30a2\u30d5\u30ea\u30ab\u3001\u4e2d\u6771\u3001\u5357\u30a2\u30b8\u30a2\uff09\u306b\u304a\u3044\u3066\u9ad8\u3044\u767a\u751f\u7387\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u3002\u7d043\u5206\u306e2\u306e\u75c7\u4f8b\u306f\u5317\u30a2\u30d5\u30ea\u30ab\u5730\u57df\u304b\u3089\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u5730\u57df\u3067\u306fRFXANK\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3042\u308a\u3001\u8fd1\u89aa\u5a5a\u304c\u591a\u3044\u5bb6\u5ead\u3067\u306f\u767a\u75c7\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3002\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u306b\u3088\u308b\u3068\u3001BLS II\u306e\u5927\u591a\u6570\u306fRFXANK\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff0875.3%\uff09\u306b\u8d77\u56e0\u3057\u3001\u6b21\u3044\u3067RFX5\u3001RFXAP\u3001CIITA\u306e\u9806\u306b\u983b\u5ea6\u304c\u4f4e\u304f\u306a\u308b\u3002CIITA\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308bBLS II\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3042\u308a\u3001\u5168\u4f53\u306e9%\u7a0b\u5ea6\u306b\u904e\u304e\u306a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>BLS II\u306e\u767a\u75c7\u306b\u306f\u3001MHC-II\u907a\u4f1d\u5b50\u306e\u8ee2\u5199\u3092\u5236\u5fa1\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002MHC-II\u907a\u4f1d\u5b50\u306f\u3001X\u3001X2\u3001Y\u3001W\/S\u306e4\u3064\u306e\u30b7\u30b9\u4f5c\u7528\u30a8\u30ec\u30e1\u30f3\u30c8\u3092\u6301\u3064\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u3092\u4ecb\u3057\u3066\u5236\u5fa1\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u90e8\u4f4d\u306b\u306f\u4ee5\u4e0b\u306e\u8ee2\u5199\u56e0\u5b50\u304c\u7d50\u5408\u3059\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>RFX\u8907\u5408\u4f53\uff08RFXANK\u3001RFX5\u3001RFXAP\uff09<\/strong>\uff1aX\u30dc\u30c3\u30af\u30b9\u306b\u7d50\u5408\u3057\u3001MHC-II\u8ee2\u5199\u306e\u57fa\u76e4\u3092\u5f62\u6210<\/li>\n\n\n\n<li><strong>CREB\uff08cAMP\u5fdc\u7b54\u8981\u7d20\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\uff09<\/strong>\uff1aX2\u30dc\u30c3\u30af\u30b9\u306b\u7d50\u5408<\/li>\n\n\n\n<li><strong>NF-Y\uff08CCAAT\u30dc\u30c3\u30af\u30b9\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\uff09<\/strong>\uff1aY\u30dc\u30c3\u30af\u30b9\u306b\u7d50\u5408<\/li>\n\n\n\n<li><strong>CIITA\uff08\u30af\u30e9\u30b9II\u30c8\u30e9\u30f3\u30b9\u30a2\u30af\u30c1\u30d9\u30fc\u30bf\u30fc\uff09<\/strong>\uff1aRFX\u8907\u5408\u4f53\u306b\u7d50\u5408\u3057\u3001\u8ee2\u5199\u3092\u958b\u59cb<\/li>\n<\/ul>\n\n\n\n<p>CIITA\u306fMHC-II\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u8abf\u7bc0\u3059\u308b\u300c\u30de\u30b9\u30bf\u30fc\u30b3\u30f3\u30c8\u30ed\u30fc\u30e9\u30fc\u300d\u3068\u3055\u308c\u3001\u76f4\u63a5DNA\u306b\u7d50\u5408\u3059\u308b\u3053\u3068\u306a\u304f\u3001\u4ed6\u306e\u8ee2\u5199\u56e0\u5b50\u3092\u4ecb\u3057\u3066MHC-II\u907a\u4f1d\u5b50\u306e\u8ee2\u5199\u3092\u6d3b\u6027\u5316\u3059\u308b\u3002CIITA\u306e\u5909\u7570\u306f\u3001MHC-II\u306e\u767a\u73fe\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001CD4+ T\u7d30\u80de\u306e\u767a\u9054\u3084\u6297\u4f53\u7523\u751f\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>BLS II\u306e\u5178\u578b\u7684\u306a\u75c7\u72b6\u306f\u3001\u65e9\u671f\u767a\u75c7\u306e\u53cd\u5fa9\u611f\u67d3\u3067\u3042\u308a\u3001\u7279\u306b\u80ba\u708e\u3001\u6162\u6027\u4e0b\u75e2\u3001\u53e3\u8154\u30ab\u30f3\u30b8\u30c0\u75c7\u306a\u3069\u304c\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u3002\u4e00\u822c\u7684\u306a\u75c5\u539f\u4f53\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u3082\u306e\u304c\u6319\u3052\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d30\u83cc<\/strong>\uff1a\u30b5\u30eb\u30e2\u30cd\u30e9\u5c5e\u3001\u80ba\u708e\u7403\u83cc\u3001\u30d6\u30c9\u30a6\u7403\u83cc<\/li>\n\n\n\n<li><strong>\u30a6\u30a4\u30eb\u30b9<\/strong>\uff1a\u30d8\u30eb\u30da\u30b9\u30a6\u30a4\u30eb\u30b9\uff08HSV\uff09\u3001\u30b5\u30a4\u30c8\u30e1\u30ac\u30ed\u30a6\u30a4\u30eb\u30b9\uff08CMV\uff09<\/li>\n\n\n\n<li><strong>\u771f\u83cc<\/strong>\uff1a\u30cb\u30e5\u30fc\u30e2\u30b7\u30b9\u30c1\u30b9\u30fb\u30a4\u30ed\u30d9\u30c1\u30a4\uff08Pneumocystis jirovecii\uff09\u3001\u30ab\u30f3\u30b8\u30c0\u5c5e<\/li>\n\n\n\n<li><strong>\u5bc4\u751f\u866b<\/strong>\uff1a\u30af\u30ea\u30d7\u30c8\u30b9\u30dd\u30ea\u30b8\u30a6\u30e0\u5c5e<\/li>\n<\/ul>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306b\u306f\u3001\u6210\u9577\u969c\u5bb3\u3001\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u306e\u7570\u5e38\u3001CD4+ T\u7d30\u80de\u306e\u6e1b\u5c11\u3001\u304a\u3088\u3073\u795e\u7d4c\u767a\u9054\u9045\u6ede\u304c\u542b\u307e\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>BLS II\u306e\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u30d5\u30ed\u30fc\u30b5\u30a4\u30c8\u30e1\u30c8\u30ea\u30fc<\/strong>\uff1aB\u7d30\u80de\u3084\u5358\u7403\u306b\u304a\u3051\u308bHLA-DR\uff08MHC-II\uff09\u306e\u767a\u73fe\u3092\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u6e2c\u5b9a<\/strong>\uff1aIgG\u3001IgA\u3001IgM\u306e\u4f4e\u4e0b\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30d1\u7403\u30b5\u30d6\u30bb\u30c3\u30c8\u89e3\u6790<\/strong>\uff1aCD4+\/CD8+\u6bd4\u306e\u9006\u8ee2\uff08CD4+\u4f4e\u4e0b\u3001CD8+\u5897\u52a0\uff09<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\uff1aCIITA\u3001RFX5\u3001RFXANK\u3001RFXAP\u306e\u5909\u7570\u3092\u691c\u51fa<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001BLS II\u306e\u6839\u6cbb\u7642\u6cd5\u306f\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u306e\u307f\u3067\u3042\u308b\u3002\u6cbb\u7642\u6226\u7565\u306b\u306f\u4ee5\u4e0b\u304c\u542b\u307e\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u611f\u67d3\u4e88\u9632<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6297\u83cc\u85ac\uff08\u30c8\u30ea\u30e1\u30c8\u30d7\u30ea\u30e0\u30fb\u30b9\u30eb\u30d5\u30a1\u30e1\u30c8\u30ad\u30b5\u30be\u30fc\u30eb\uff09<\/li>\n\n\n\n<li>\u6297\u30a6\u30a4\u30eb\u30b9\u85ac\uff08\u30ac\u30f3\u30b7\u30af\u30ed\u30d3\u30eb\uff09<\/li>\n\n\n\n<li>\u6297\u771f\u83cc\u85ac\uff08\u30d5\u30eb\u30b3\u30ca\u30be\u30fc\u30eb\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u88dc\u52a9\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u88dc\u5145\u7642\u6cd5\uff08IVIG\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HSCT\u306e\u9069\u5fdc\u8a55\u4fa1\u3068\u79fb\u690d<\/strong>\n<ul class=\"wp-block-list\">\n<li>HLA\u9069\u5408\u30c9\u30ca\u30fc\u304b\u3089\u306e\u79fb\u690d\u304c\u7406\u60f3\u7684<\/li>\n\n\n\n<li>HLA\u4e0d\u9069\u5408\u79fb\u690d\u306e\u5834\u5408\u3001\u5f37\u5316\u3055\u308c\u305f\u514d\u75ab\u6291\u5236\u7642\u6cd5\u304c\u5fc5\u8981<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>BLS II\u306e\u4e88\u5f8c\u306f\u4e00\u822c\u306b\u4e0d\u826f\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u5e7c\u5c11\u671f\u306b\u91cd\u7be4\u306a\u611f\u67d3\u75c7\u3067\u6b7b\u4ea1\u3059\u308b\u3002HSCT\u3092\u53d7\u3051\u305f\u60a3\u8005\u306e\u751f\u5b58\u7387\u306f40\u301c80%\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u8a3a\u65ad\u6642\u306e\u5e74\u9f62\u3001\u79fb\u690d\u524d\u306e\u611f\u67d3\u72b6\u614b\u3001\u79fb\u690d\u5f8c\u306e\u514d\u75ab\u518d\u69cb\u7bc9\u306e\u9032\u884c\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u60a3\u8005\u306f\u9069\u5207\u306aIVIG\u304a\u3088\u3073\u6297\u751f\u7269\u8cea\u6cbb\u7642\u306b\u3088\u3063\u306620\u4ee3\u307e\u3067\u751f\u5b58\u3057\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f5\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1\u3059\u308b\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u8fc5\u901f\u306aHSCT\u306e\u5b9f\u65bd\u304c\u751f\u5b58\u7387\u5411\u4e0a\u306e\u9375\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.2147\/TACG.S472788\">Salih, O. A. M. M., Erwa, N. H. H., Abdelmoneim, A. H., Fadl, H. A. O., Glanzmann, B., Osman, M. A. B., \u2026 Mustafa, A. (2024). Class II Transactivator Gene (<em>CIITA<\/em>) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient. <em>The Application of Clinical Genetics<\/em>, <em>17<\/em>, 133\u2013141. https:\/\/doi.org\/10.2147\/TACG.S472788<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.12932\/AP-020720-0898\">Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report. (2024). <em>Asian Pacific Journal of Allergy and Immunology<\/em>. https:\/\/doi.org\/10.12932\/AP-020720-0898<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/sji.13335\">\u00dcnsal, H., Caka, C., Bildik, H. N., Esenbo\u011fa, S., Kupesiz, A., Ku\u015fkonmaz, B., Cetinkaya, D. U., Van Der Burg, M., Tezcan, \u0130., &amp; \u00c7a\u011fda\u015f, D. (2024). A large single\u2010center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey. <em>Scandinavian Journal of Immunology<\/em>, <em>99<\/em>(1), e13335. https:\/\/doi.org\/10.1111\/sji.13335<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4103\/ipcares.ipcares_150_21\">Chidambaram, A. C., Ramamoorthy, J. G., Krishnamurthy, S., Manivannan, P., &amp; Karunakar, P. (2021). Novel heterozygous mutation of ciita gene presenting with recurrent infections and systemic lupus erythematosus. <em>Indian Pediatrics Case Reports<\/em>, <em>1<\/em>(3), 179\u2013181. https:\/\/doi.org\/10.4103\/ipcares.ipcares_150_21<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.clim.2022.108932\">Damoiseaux, M., Damoiseaux, J., Pico-Knijnenburg, I., Van Der Burg, M., Bredius, R., &amp; Van Well, G. (2022). Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II. <em>Clinical Immunology<\/em>, <em>235<\/em>, 108932. https:\/\/doi.org\/10.1016\/j.clim.2022.108932<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms22031074\">Le\u00f3n Machado, J. A., &amp; Steimle, V. (2021). The mhc class ii transactivator ciita: Not (Quite) the odd-one-out anymore among nlr proteins. <em>International Journal of Molecular Sciences<\/em>, <em>22<\/em>(3), 1074. https:\/\/doi.org\/10.3390\/ijms22031074<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u88f8\u30ea\u30f3\u30d1\u7403\u75c7\u5019\u7fa4, BLS II, CIITA, MHC-II\u6b20\u640d\u75c7, \u514d\u75ab\u4e0d\u5168\u75c7, \u907a\u4f1d\u6027\u75be\u60a3, \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d, RFX5, RFXANK, RFXAP, CD4+T\u7d30\u80de, HLA-DR, \u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168, \u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u88dc\u5145\u7642\u6cd5, \u907a\u4f1d\u5b50\u691c\u67fb<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60114","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60114","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60114\/revisions"}],"predecessor-version":[{"id":128054,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60114\/revisions\/128054"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60114"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}