¸¤¼ïÊÌ°äÅÁÀ¼À´µ(07ǯÅÙÅÐϿƬ¿ô½ç) | 1°Ì¥À¥Ã¥¯¥¹¥Õ¥ó¥È | 2°Ì¥Á¥ï¥ï | 3°Ì¥×¡¼¥É¥ë | 4°Ì¥è¡¼¥¯¥·¥ã¡¼¥Æ¥ê¥¢ | 5°Ì¥Ý¥á¥é¥Ë¥¢¥ó |
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38
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60 | 114 | 83 | 6 | 35 | 22 | 30 | 58 | 85 | 79 | 23 | 35 | 15 | 24 |
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·Á¼Á | ·ì´É¡¦·ì±Õ | Ǿ¿À·Ð | ¶Ú¹ü³Ê¡¦·ë¹çÁÈ¿¥ | ¸ÆµÛ´ï | ½Û´Ä´ï | ¾Ã²½´ï | ¿ÕǢϩ | ÀèÅ·´ñ·Á | ÆâʬÈ硦Âå¼Õ | ´ã¡¦¼ª¡¦É¡ | ¼ðáç | ÈéÉæ | ¥¢¥ì¥ë¥®¡¼¡¦Ì鱅 | ¤½¤Î¾ |
¥¢¥ì¥ë¥®¡¼¡¦Ìȱ֡¡¡¡¡¡¡¡¡¡15(6) |
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ÄÌÈÖ | ¼À ´µ ̾ | ¼ç ¤Ê ¾É ¾õ | È÷¡¡¡¡¡¡¡¡¡¡¹Í | °äÅÁ·ÁÂÖ | ¼ç¤Ê³ºÅö¸¤¼ï |
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40 |
Arthritis, rheumatoid ¥ê¥¦¥Þ¥ÁÀ´ØÀá±ê |
·ã¤·¤¤Äˤߡ¢½ÅÅÙ¤Îìì¹Ô¡¢È¯Ç®¡¢´ØÀáæ±±¡¢Êâ¹Ô¾ã³² | ¼«¸ÊÌȱּÀ´µ¡£¼ç¤Ë»Í»è(¤ÎÀè)¤Î´ØÀ᤬¼ð¤ì¡¢¤³¤ï¤Ð¤ê¡¢Äˤߤòȼ¤¦ÊÑ·Á¤¬µ¯¤³¤ë¡£ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¾®·¿ |
54 |
Atopy ¥¢¥È¥Ô¡¼ |
¼ç¤ËáÚ¤ß | ¥¢¥ì¥ë¥®¡¼¤òµ¯¤³¤¹ÈéÉæ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¿ |
63 |
Black hair follicle dysplasia ¹õ¿§ÌÓÊñ·ÁÀ®ÉÔÁ´ |
¹õ¿§Éôʬ¤ÎÈïÌӤο¤Ó¤¬°¤¤¡¢Ã¦ÌÓ¡¢À¸¤¨¤Ê¤¤¡£¥Ö¥ÁÊÁ¤ÇÌÜΩ¤Ä¡£¤½¤ÎÉôʬ¤Î¥Õ¥±¤äÈéÉæ¤Î¹Ó¤ì¡¢ÄÞ¥¸¥¹¥È¥í¥Õ¥£¡¼¤È¹çÊ»¤¹¤ë¤³¤È¤â¿¤¤¤è¤¦¤À | ¼«¸ÊÌȱּÀ´µ??? | AR | L¥ß¥å¥ó¥¹¥¿¡¼¡¢¥»¥Ã¥¿¡¼¡¢NZ¥Ï¥ó¥¿¥¦¥§¥¤¡¢¹õ¤¤¥µ¥ë¥¡¼¡¢¥È¥é¥¤¤Î¥¸¥ã¥Ã¥¯ |
82 |
Bullous pemphigoid antigen *¥¢¥ó¥Á¥¸¡¼¥ó¿åá×ÀÎàÅ·á×áì |
Ƭ¡¦¼ó¡¦Â¤ÎÉÕ¤±º¬¡¦»Í»è¡¦Ê¢Éô¤ËáڤߤΤ¢¤ëÈéÉæ¤ÎÀ֤ߤÎÃæ¤ËÂç¤Ìܤοå¤Ö¤¯¤ì¡¦ÄÙáç |
*antigen¤Ï¹³¸¶¡¡*ÆÃÄê°äÅÁ»Ò¤Îž¼Ì¤òÁ˳²¤¹¤ëµ¡Ç½¤ò»Ø¤·¤Æ¥¢¥ó¥Á¥¸¡¼¥ó Ìȱ֥·¥¹¥Æ¥à¤¬Êø¤ì¤ÆÈéÉæ¤ò¹¶·â¤¹¤ë¹³ÂΤ¬¤Ç¤¤ë¤³¤È¤¬¸¶°ø¡¢µÞ®¤Ë¿Ê¹Ô¤·Æ󼡴¶À÷¤â´Þ¤á»à˴Ψ¤Ï¹â¤¤ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥³¥ê¡¼ |
83 |
C3 deficiency C3·ç»¾É |
È¿Éü¤¹¤ë²½Ç¿À¤Î´¶À÷¾É¡¢ÀèŷŪÌȱÖÉÔÁ´¾É¤Ê¤Î¤Ç´¶À÷¾É¤ËØí¤ê¤ä¤¹¤¤ |
Gene: C3 C3(ÊäÂÎÂè3À®Ê¬)¤È¤ÏÅü¥¿¥ó¥Ñ¥¯¡£ÄãÃͤǤΰ۾ïÃͤò¼¨¤¹¼À´µ¤È¤·¤Æ¤Ï°Ê²¼¤Ë¤Ê¤ë¡£ ½ÐÀ¸»þ¤Ë»Ï¤Þ¤ëè²Ëì¤ò¤â¤Ã¤¿ºÙ¶Ý¤Ë¤è¤ëºÆȯÀ²½Ç¿À´¶À÷¡¢SLE¡¢°À´ØÀá¥ê¥¦¥Þ¥Á¡¢DIC¡¢Â¿Â¡´ïÉÔÁ´¡¢¥¢¥Ê¥Õ¥£¥é¥¥·¡¼¥·¥ç¥Ã¥¯¡¢µÞÀ»åµåÂοձꡢËìÀÁý¿£À»åµåÂοձꡢ¥¨¥ó¥É¥È¥¥·¥ó¥·¥ç¥Ã¥¯¡¢C3NeF¤Î¸ºß¡¢I(C3bINA)·ç»¾É¡¢C3·ç»¾É¡¢ËýÀ´Î±ê¡¢´Î¹ÅÊÑ¡¢·à¾É´Î±ê¡¢°¡µÞÀ´Î±ê¡¢ÇÔ·ì¾É ÆÈΩ¹ÔÀ¯Ë¡¿ÍÇÀ¶È¡¦¿©ÉÊ»º¶Èµ»½ÑÁí¹ç¸¦µæµ¡¹½¡Ö°äÅÁÀÊäÂÎÂè3À®Ê¬Äã·ì¾É¥¦¥µ¥®¤Îºî½Ð¡× (SLE¤ÏC1¡¢C2¡¢C4¤Î¼ç¤ÊÎ×¾²½ê¸«) |
¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì°äÅÁ»Ò ¥Ò¥È¤Ç¤ÏAR |
¥Ö¥ê¥¿¥Ë¡¼ |
135 |
Coeliac sprue ¥»¥ê¥¢¥Ã¥¯É |
ÄˤߤΤ¢¤ëÊ¢ÉôËÄËþ¡¢ËýÀ²¼Î¡¡¢°½ÊØ(»éËÃÊØ)¡¢ÂνŤε޷ã¤Ê¸º¾¯¤äÁý²Ã¡¢ÉÏ·ì¡¢¶ÚÆù¤ÎáÛÚ»¡¢ÄˤߤȤ«¤æ¤ß¤òȼ¤¦¼¾¿¾ | ¥°¥ë¥Æ¥óÉÔÂÑÀ¼«¸ÊÌȱּÀ´µ¡£¾®Çþ¤ä¥é¥¤Çþ¤Ë´Þ¤Þ¤ì¤ë¥°¥ë¥Æ¥ó¤Ë¤è¤Ã¤Æ¾®Ä²¤¬¾ã³²¤µ¤ì±ÉÍÜʬ¤ÎµÛ¼ýÉÔÁ´¤¬À¸¤¸¤ë¼À´µ¡£´Êñ¤Ë¸À¤¨¤Ð½ÅÅ٤ξ®Çþ¥¢¥ì¥ë¥®¡¼ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
172 |
Dermatitis, atopic ¥¢¥È¥Ô¡¼ÀÈéÉæ±ê |
áڤߡ¢¼¾¿¾¡¢¥Õ¥±¡¢Ã¦ÌÓ¡¢È¯¿¾Éô°Ì¤Ï´éÌÌ¡¢»Í»è¤ÎÀè¡¢¤½¤±¤¤Éô¡¢¤ï¤¡£ | ¼¾¿¾(ÈéÉæ¤Î±ê¾É)¤òȼ¤¦¤â¤Î¤Î¤¦¤Á¡¢¥¢¥ì¥ë¥®¡¼È¿±þ¤È´ØÏ¢¤¬¤¢¤ë¤â¤Î¡£ÀèÅ·À¤Î²áÉҾɤΰì¼ï¡£·ëËì±ê¤äÇ¿Èé¾É¤Î¹çÊ» | unknown | ¿ |
174 |
Dermatomyositis ÈéÉæ¶Ú±ê |
Á´¿È¤Î¶ÚÎϤÎÄã²¼¤ÈÈéÉæ¤Î±ê¾É¤Ê¤É¡£âۤμð¤ì¡¢»Ø¤äɪ¡¦É¨¤Î´ØÀá¤ÎÈ餬Çí¤±¤Æȯ¿¾¤¬½Ð¤Æ´Ë¤ä¤«¤Ë¶ÚÎϤÎÄã²¼¤¬µ¯¤³¤ë¡£È¯Ç®¡¢³èÆ°Äã²¼¡¢ÇٱꡢÉÔÀ°Ì® | ¼«¸ÊÌȱּÀ´µ¡£´¨¤¯¤Ê¤ë¤È¤È¤¯¤ËÆ°¤¤¬°¤¯¤Ê¤ë | unknown | ¥³¥ê¡¼¡¢¥·¥§¥ë¥Æ¥£¡¼ |
352 |
Immunodeficiency ÌȱÖÉÔÁ´¾É |
°×´¶À÷À¡¢½ÅÅ٤Ǥ¢¤ë¤Û¤ÉÃ×»àŪ | À¸ÂΤÎÌȱ־õÂÖ¡¢Ìȱֵ¡Ç½¤Îȯ¸½¤ÎÉÔ´°Á´¤Ê¾õÂÖ | XÏ¢º¿¤ÈAR¤¬Â¿¤¤ | * |
353 |
Immunoglobulin A deficiency Ìȱ֥°¥í¥Ö¥ê¥óA·ç»¾É |
¥¢¥ì¥ë¥®¡¼¡¢²¼Î¡¡¢¼«¸ÊÌȱּÀ´µ | ¸¶È¯ÀÌȱÖÉÔÁ´¾É¤ÎÃæ¤Ç¹³ÂÎÌȱÖÉÔÁ´¤ò¼çħ¤È¤¹¤ëÉ·¿¤Î°ì¤Ä¤Ç¿¤¯¤Ï̵¾É¾õ¡£¥»¥ê¥¢¥Ã¥¯É¤ä±ê¾ÉÀIJ¼À´µ¤Ê¤É¼«¸ÊÌȱּÀ´µ¤ä¥¢¥ì¥ë¥®¡¼¼À´µ¤Ê¤É¤È¹çÊ»¡£IgA·ç»¡£A¤ÏÇ´ËìÌ̤ǤζɽêÌȱ֤˴ØÍ¿¤¹¤ëÌȱ֥°¥í¥Ö¥ê¥ó | unknown | ¥·¥ã¡¼¥Ú¥¤¡¢G¥·¥§¥Ñ¡¢¥´¥ë¡¢¥é¥Ö¡¢¥Ï¥¤¥¤¥í¥ª¥ª¥«¥ß |
354 |
Immunoglobulin A glomerulonephropathy Ìȱ֥°¥í¥Ö¥ê¥óA·ç»À»åµåÂοվÉ(¤·¤¤å¤¦¤¿¤¤¤¸¤ó) |
·ìÇ¢¡¢ËìÀÁý¿£À»åµåÂοձê | ̵¾É¾õ¤«¤éËýÀŪ¤Ê»åµåÂΤαê¾É¤¬·ìÇ¢¡¦¤¿¤ó¤Ñ¤¯Ç¢¤È¤·¤Æ¸½¤ì¡¢¿Õµ¡Ç½¤¬Äã²¼¤·¿ÕÉÔÁ´¤Ë¤¤¤¿¤ë | unknown | * |
353 |
Immunoglobulin G deficiency Ìȱ֥°¥í¥Ö¥ê¥óG·ç»¾É |
¾Ã²½´ï¾É¾õ¡¢ÈéÉæ±ê¡¢°×´¶À÷À | G¤Ï·ìÃæ¤Î¹³ÂÎ¥¿¥ó¥Ñ¥¯¼Á¡£À¸¸å2¡Á3¥ö·îº¢¤«¤é²¼Î¡¤äÓÒÅǤΤۤ«¤ËÇ¿Èé¾É¤Ê¤É·Ú¤¤¾É¾õ¤«¤éÆÍÁ³»à¤Ë¤¤¤¿¤ë¤³¤È¤â¤¢¤ë | unknown | ¥ï¥¤¥Þ |
387 |
Linear IgA disease *¿åá×ÀÈéÉæ¾É |
???linear¤ÏÀþ¾õ¡¡Ìȱ֥°¥í¥Ö¥ê¥ó¡¡É »Í»è¡¦ÁÍ·ÂÉô¡¦´éÌÌ¡¦¸ý¹ÐÆâ¤Î¤Ó¤é¤óÀÄÙáç¤ÈáÐÈé(áÐÈ餫¤Ò¤ÏÉÂÊѤÎÄìÉô¤ËͳÍ褹¤ëÞú½Ð±Õ¡¢¤«¤µ¤Ö¤¿) |
¼«¸ÊÌȱÖÀɽÈé²¼¿åáפÎÈéÉæÉ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥À¥Ã¥¯¥¹¡¢¥·¡¼¥º¡¼¡¢C¥·¥ã¡¼¥Ú¥¤ |
402 |
Masticatory muscle myositis ÒòÓð¶Ú±ê |
¸ý¤ò³«¤±¤¿¤¬¤é¤Ê¤¤(¶ÚÆù¤¬Äˤà)¡¢¸ý¤ÎÃæ¤Î¼ð¤ì¡¢¿©ÍßÄã²¼¡¢È¯Ç®¡£¶ÚÆù¤Î¼ð¤ì¤«¤é»ë³Ð¾ã³²¡¢´ãµåÆͽС¢¼ºÌÀ¡£È¯¾É»þ´ü¤Ï¼ãǯ¡¢Ãæǯ | ÊÌ̾°à½ÌÀÒòÓð¶Ú±ê¡¢¹¥»ÀµåÀ¶Ú±ê¡¢ÒòÓð¥ß¥ª¥Ñ¥Á¡¼¡£ÒòÓð¶Ú¤ò¹³¸¶¤È¤·¤Æǧ¼±¤·¼«¸ÊÌȱ֤¬Æ¯¤¯¤è¤¦¤Ë¤Ê¤Ã¤¿¾õÂ֤ǡ¢¤Þ¤ë¤Ç¤¦¤ÄɤΤ褦¤Ê¾É¾õ¤È¸«¤¨¤ë¡£¸ý¤òÊĤ¸¤é¤ì¤Ê¤¤¾ì¹ç¤â¤¢¤ë¡£2¡Á3½µ´ÖµÞÀ´ü¤¬Â³¤¤¤Æ¤¤¤ë´Ö¤ËŬÀڤʼ£ÎŤò¤µ¤ì¤Ê¤¤¤È¡¢¶ÚÆù¤Î¼ý½Ì¤¬¹Å²½¤µ¤ì¤ëËýÀ´ü¤Ë¤Ê¤ë¤¿¤áËã¿ì¤ò¤«¤±¤Æ¤â¸ý¤ò³«¤±¤é¤ì¤Ê¤¯¤Ê¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
429 |
Multiple autoimmune diseases syndrome Ê£¿ô¤Î¼«¸ÊÌȱּÀ´µ¾É¸õ·² |
ÆâʬÈç¼À´µ¡¢À¸¿£¾ã³²¡¢Ã¦ÌÓ¡¢ÇòÈá¢ÉÏ·ì | ÅüǢɤȥ¢¥¸¥½¥óɤȶڱê¤ä¶Ú̵ÎϾɤʤɤòʻȯ¤¹¤ë¤è¤¦¤Ê¾õÂÖ¡£¾É¾õ¤Ï¤µ¤Þ¤¶¤Þ¤Î¤è¤¦ | unknown | ¥¤¥¿¥°¥ì |
448 |
Myeloperoxidase deficiency ¥ß¥¨¥í¥Ú¥ë¥ª¥¥·¥À¡¼¥¼·ç»¾É |
°×´¶À÷À | ¥ß¥¨¥í¥Ú¥ë¥ª¥¥·¥À¡¼¥¼¤Ï¹¥Ãæµå¤Ë¿¤¯Â¸ºß¤¹¤ë¹ÚÁǤǥ饤¥½¥¾¡¼¥à¤¿¤ó¤Ñ¤¯¤Î°ì¼ï¡£ºÙ˦Æ⻦¶ÝºîÍѤÎÄã²¼¡£¥Ò¥È¤Ç¤Ï̵¾É¾õ¡Á¥«¥ó¥¸¥À¾É¤Ë°×´¶À÷À | AR | ¥¤¥¿¥ê¥¢¥ó¥Ï¥¦¥ó¥É |
545 |
Pemphigus Å·á×áì |
Ƭ¤È¼ª¤ÎÈéÉæ¤ÎÀ֤ߤÈæÌÓ¡¦¥Ñ¥Ã¥ÉÈî¸ü¡¢Á´¿È¤Î¤É¤³¤Ë¤Ç¤â¿å¤Ö¤¯¤ìÍͤαê¾É(ÌÜ¡¦æêÌ硦紤˽Ф뤳¤È¤â¤¢¤ë)¡¢¸ý¤ÎÃæ¤Ë¤Ç¤¤ì¤Ð¿©Íߤ¬¼º¤ï¤ì¤ë(¸ýÆâ±ê¤Ï¿¤¤)¡¢¥Ë¥³¥ë¥¹¥¡¼Ãû¸õ | ¿Ò¾ïÀÅ·á×á졦¹ÈÈÃÀÅ·á×á졦Áý¿£ÀÅ·á×áì¤È¤â¸À¤¦¡£Àµ¾ïÁÈ¿¥¤ËÂФ¹¤ë°Û¾ï±þÅúÌȱ֥·¥¹¥Æ¥à¤Ë¤è¤Ã¤Æ°ú¤µ¯¤³¤µ¤ì¤ëÈéÉæ¤Ë±Æ¶Á¤òµÚ¤Ü¤¹4¤Ä¤Î¼À´µ¤ÎÊ£¹çÂΡ¢¼«¸ÊÌȱÖÀ¿åá×À¼À´µ¡£ºÇ½é¤ÏɽÈéºÙ˦´Ö¤Î¥»¥á¥ó¥Èʪ¼Á¤¬¿¯¤µ¤ìºÙ˦´Ö¤Î·ë¹ç¤¬¼º¤ï¤ì¤Æ¿åË¢¤¬¤Ç¤¤ë¡£¤ï¤ê¤ÈǯÎð¤ò½Å¤Í¤Æ¤«¤éµ¯¤¤ä¤¹¤¯¿åË¢¤È¸ýÆâ±ê¤¬ÌÜΩ¤Ä¾É¾õ¡£¥¹¥Æ¥í¥¤¥É¡¦ÌȱÖÍÞÀ©ºÞ¤Ê¤É¤Ç¼£ÎŤǤ¤ë¥±¡¼¥¹¤â¤¢¤ë¤¬½Å¾ÉÎã¤Ç¤Ï¤¦¤ÄÉÂÍÍ¡¦¿©Í߸ºÂà¤Ê¤É¤Ç¿ê¼å¤â | ¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì°äÅÁ»Ò | ¥³¥ê¡¼¡¢G¥·¥§¥Ñ |
565 |
Polyglandular autoimmune syndrome, type II ¿Á£À¼«¸ÊÌȱ־ɸõ·²2·¿ |
Ê£¿ô²Õ½ê¤ÎÆâʬÈçÁ£µ¡Ç½¤ÎƱ»þÄã²¼¡¢ÇòÈá¢Ã¦ÌÓ¡¢°ÀÉÏ·ì¡¢½Å¾É¶Ú̵ÎÏ¾É | ¶·¿¤Ï¥·¥å¥ß¥Ã¥È¾É¸õ·²¡£¿Õ¡¡¢¹Ã¾õÁ£¡¢Éû¿Õ¤ª¤è¤Óç¹Â¡¤ò¼«¸Ê¹¶·â¤¹¤ëÌȱַϤμÀ´µ¤Ç¿ÕÉÔÁ´¡¦¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¦Éû¿ÕÈé¼Áµ¡Ç½Äã²¼¾É¡¦ÅüǢɤʤɤ¬Ê£¿ô¸½¤ì¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥ì¥ª¥ó |
631 |
Severe combined immunodeficiency disease, autosomal *¾ïÀ÷¿§ÂνžÉÊ£¹ç·¿ÌȱÖÉÔÁ´¾É |
* |
Genes:PRKDC * |
AR | * |
632 |
Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive *¾ïÀ÷¿§ÂνžÉÊ£¹ç·¿ÌȱÖÉÔÁ´¾ÉTºÙ˦±¢À¡¢BºÙ˦±¢À¡¢NKºÙ˦ÍÛÀ |
* |
Genes:RAG1 * |
AR | * |
633 |
Severe combined immunodeficiency disease, X-linked *XÏ¢º¿À½Å¾ÉÊ£¹ç·¿ÌȱÖÉÔÁ´¾É |
* |
Genes:IL2RG * |
x-linked | * |