| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (56.2%) |
22525637 |
[Autoimmune lymphoproliferative syndrome]. Rodrigues V, Conde M, Figueiredo A, Vasconcelos J, Dias A. Acta Med Port. 2011;24(5):833-6. |
| 脾腫 貧血 発熱 | ||
| CD4 CD8A FASLG IL10 | ||
| ヒト 子供 男 自己免疫性リンパ増殖症候群 | ||
| 2 (55.1%) |
25972287 |
Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. Meena KR, Bisht S, Tamaria KC. Indian J Pediatr. 2015;82(12):1172-4. |
| 肝脾腫 網状赤血球減少症 正球性貧血 Abnormal lymphocyte apoptosis | ||
| ヒト リンパ節腫脹 免疫学的検査 免疫調節薬 女 子供 糖質コルチコイド 肝腫大 脾腫 自己免疫性リンパ増殖症候群 薬物投与計画 血液検査 赤芽球癆 鑑別診断 | ||
| 2 (55.1%) |
25619350 |
[A case of autoimmune lymphoproliferactive syndrome and literature review]. Liu L, Hu J, Ma J, Li X, Li F, Li C. Zhonghua Er Ke Za Zhi. 2014;52(12):923-6. |
| 肝脾腫 溶血性貧血 発熱 | ||
| CD4 CD8A IGHA1 | ||
| CD95抗原 T細胞サブセット ヒト 幼児 男 細胞数 自己免疫性リンパ増殖症候群 | ||
| 4 (50.9%) |
26679669 |
[Autoimmune lymphoproliferative syndrome: a case report and literature review]. Sun JP, Lu XT, Zhao WH, Hua Y. Beijing Da Xue Xue Bao Yi Xue Ban. 2015;47(6):1022-7. |
| 脾腫 溶血性貧血 肝腫大 | ||
| c|SUB|A|309|C | ||
| Tリンパ球 ヒト 幼児 抗核抗体 男 脾腫 自己免疫性リンパ増殖症候群 血小板減少症 | ||
| 4 (50.9%) |
24906264 |
Autoimmune lymphoproliferative syndrome with neonatal onset. Naveed M, Khamis Butt UB, Mannan J. J Coll Physicians Surg Pak. 2014;24 Suppl 2:S124-6. |
| 肝脾腫 脾腫 貧血 | ||
| Tリンパ球 ヒト 女 幼児 新生児 男 肝腫大 脾腫 自己免疫性リンパ増殖症候群 致死的転帰 血小板減少症 | ||
| 6 (50.0%) |
26041772 |
A Novel and Likely Inherited Lymphoproliferative Disease in British Shorthair Kittens. Aberdein D, Munday JS, Fairley RA, Vernau W, Thompson KG. Vet Pathol. 2015;52(6):1176-82. |
| 脾腫 溶血性貧血 | ||
| CD4 CD8A | ||
| T細胞リンパ腫 ネコ ネコ疾患 リンパ球増殖性疾患 リンパ節腫脹 動物 女 男 疾患の遺伝的素因 脾腫 | ||
| 6 (50.0%) |
21961487 |
Glucocorticoid-resistant Evans' syndrome successfully controlled with low-dose cyclosporine. Janic D, Krivokapic-Dokmanovic L, Jovanovic N, Lazic J, Rodic P, Jankovic S. Int J Clin Pharmacol Ther. 2011;49(10):622-5. |
| 脾腫 Coombs 陽性溶血性貧血 | ||
| CD4 CD8A | ||
| ヒト 免疫抑制薬 子供 男 糖質コルチコイド 血小板減少症 | ||
| 6 (50.0%) |
19499578 |
Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly. Glerup M, Thelle T, Gronbaek K, Hasle H. Pediatr Blood Cancer. 2009;53(6):1124-6. |
| 脾腫 貧血 | ||
| ヒト リンパ球増殖性疾患 増殖 女 幼児 男 脾摘出術 脾腫 | ||
| 6 (50.0%) |
18070632 |
Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene. Gualco G, van den Berg A, Koopmans S, Bacchi LM, Carneiro SS, Ruiz E Jr, Vecchi AP, Chan JK. Hum Pathol. 2008;39(1):137-41. |
| 脾腫 貧血 | ||
| c|DEL|930|TGCT | ||
| CD95抗原 Fas結合デスドメインタンパク質 ヒト リンパ球増殖性疾患 子供 男 自己免疫疾患 配列欠損 | ||
| 10 (48.9%) |
30080751 |
Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated With RAS-associated Autoimmune Leukoproliferative Disease. Toyoda H, Deguchi T, Iwamoto S, Kihira K, Hori H, Komada Y, Hirayama M. J Pediatr Hematol Oncol. 2018;40(8):e516-e518. |
| 肝脾腫 溶血性貧血 | ||
| KRAS | ||
| c|SUB|G|13|C;RS#:121913535 | ||
| ヒト 変異 女 子供 溶血性貧血 癌原遺伝子産物p21 |
合計: 67
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0001744 | 脾腫 | Very frequent (99-80%) |
| HP:0002716 | リンパ節腫大 | Very frequent (99-80%) |
| HP:0002730 | 慢性非感染性リンパ節腫大; | Very frequent (99-80%) |
| HP:0002960 | 自己免疫 | Very frequent (99-80%) |
| HP:0000978 | 出血傾向 | Frequent (79-30%) |
| HP:0001890 | 自己免疫性溶血性貧血 | Frequent (79-30%) |
| HP:0001892 | 異常な出血 | Frequent (79-30%) |
| HP:0001904 | 自己免疫性好中球減少症 | Frequent (79-30%) |
| HP:0001971 | 脾機能亢進 | Frequent (79-30%) |
| HP:0001973 | 自己免疫性血小板減少 | Frequent (79-30%) |
| HP:0002240 | 肝腫大 | Frequent (79-30%) |
| HP:0002851 | α/β T-細胞受容体を発現するCD4-/CD8- T 細胞の増加 | Frequent (79-30%) |
| HP:0003237 | IgG 値増加 | Frequent (79-30%) |
| HP:0005404 | B 細胞数増加 | Frequent (79-30%) |
| HP:0010702 | 高ガンマグロブリン血症 | Frequent (79-30%) |
| HP:0030782 | Abnormal serum interleukin level | Frequent (79-30%) |
| HP:0000099 | 糸球体腎炎 | Occasional (29-5%) |
| HP:0001025 | 蕁麻疹 | Occasional (29-5%) |
| HP:0001880 | 好酸球増多症 | Occasional (29-5%) |
| HP:0001888 | リンパ球減少症 | Occasional (29-5%) |
| HP:0001923 | 網状赤血球増多症 | Occasional (29-5%) |
| HP:0002633 | 血管炎 | Occasional (29-5%) |
| HP:0002848 | 特異的抗多糖類抗体欠乏症 | Occasional (29-5%) |
| HP:0002850 | IgM欠乏症 | Occasional (29-5%) |
| HP:0002923 | リウマチ因子陽性 | Occasional (29-5%) |
| HP:0003212 | IgE 値増加 | Occasional (29-5%) |
| HP:0003261 | IgA 値増加 | Occasional (29-5%) |
| HP:0003453 | 抗好中球抗体陽性 | Occasional (29-5%) |
| HP:0003493 | 抗核抗体陽性 | Occasional (29-5%) |
| HP:0003613 | 抗リン脂質抗体陽性 | Occasional (29-5%) |
| HP:0004315 | IgG欠乏症 | Occasional (29-5%) |
| HP:0004844 | Coombs 陽性溶血性貧血 | Occasional (29-5%) |
| HP:0005407 | CD4+ T 細胞数の減少 | Occasional (29-5%) |
| HP:0012115 | 肝炎 | Occasional (29-5%) |
| HP:0012189 | Hodgkin リンパ腫 | Occasional (29-5%) |
| HP:0012190 | T-細胞リンパ腫 | Occasional (29-5%) |
| HP:0012191 | B-細胞リンパ腫 | Occasional (29-5%) |
| HP:0012539 | 非Hodgkin リンパ腫 | Occasional (29-5%) |
| HP:0030080 | Burkitt lymphoma | Occasional (29-5%) |
| HP:0031392 | Abnormal proportion of CD4 T cells | Occasional (29-5%) |
| HP:0031393 | Abnormal proportion of CD8 T cells | Occasional (29-5%) |
| HP:0040126 | Abnormal vitamin B12 level | Occasional (29-5%) |
| HP:0100646 | 甲状腺炎 | Occasional (29-5%) |
| HP:0100827 | リンパ球増多症 | Occasional (29-5%) |
| HP:0000083 | 腎不全 | Very rare (4-1%) |
| HP:0000554 | ブドウ膜炎 | Very rare (4-1%) |
| HP:0000854 | 甲状腺腺腫 | Very rare (4-1%) |
| HP:0001250 | 発作 | Very rare (4-1%) |
| HP:0001369 | 関節炎 | Very rare (4-1%) |
| HP:0001402 | 肝細胞癌 | Very rare (4-1%) |
| HP:0001789 | 胎児水腫 | Very rare (4-1%) |
| HP:0002113 | 肺浸潤 | Very rare (4-1%) |
| HP:0002206 | 肺線維症 | Very rare (4-1%) |
| HP:0002315 | 頭痛 | Very rare (4-1%) |
| HP:0002583 | 結腸炎 | Very rare (4-1%) |
| HP:0002671 | 基底細胞癌 | Very rare (4-1%) |
| HP:0002725 | 全身性紅斑性狼瘡 | Very rare (4-1%) |
| HP:0002890 | 甲状腺癌 | Very rare (4-1%) |
| HP:0005263 | 胃炎 | Very rare (4-1%) |
| HP:0005528 | 骨髄細胞数増多 | Very rare (4-1%) |
| HP:0008069 | 皮膚新生物 | Very rare (4-1%) |
| HP:0008209 | 早発性卵巣不全 | Very rare (4-1%) |
| HP:0010619 | 乳房線維腫 | Very rare (4-1%) |
| HP:0011107 | 反復性アフタ性口内炎 | Very rare (4-1%) |
| HP:0012490 | 脂肪織炎 | Very rare (4-1%) |
| HP:0031020 | Bone marrow hypercellularity | Very rare (4-1%) |
| HP:0100648 | 舌新生物 | Very rare (4-1%) |
合計: 27
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002716 | リンパ節腫大 | 18 |
| HP:0001744 | 脾腫 | 16 |
| HP:0002960 | 自己免疫 | 9 |
| HP:0008940 | 全身性リンパ節腫大 | 3 |
| HP:0001433 | 肝脾腫 | 2 |
| HP:0001873 | 血小板減少 | 2 |
| HP:0005523 | リンパ増殖性疾患 | 2 |
| HP:0000952 | 黄疸 | 1 |
| HP:0001025 | 蕁麻疹 | 1 |
| HP:0001369 | 関節炎 | 1 |
| HP:0001747 | 副脾 | 1 |
| HP:0001876 | 汎血球減少症 | 1 |
| HP:0001880 | 好酸球増多症 | 1 |
| HP:0002090 | 肺炎 | 1 |
| HP:0002240 | 肝腫大 | 1 |
| HP:0002721 | 免疫不全 | 1 |
| HP:0002840 | リンパ節炎 | 1 |
| HP:0003419 | 下背部痛 | 1 |
| HP:0025289 | Cervical lymphadenopathy | 1 |
| HP:0030886 | Abnormal lymphocyte apoptosis | 1 |
| HP:0031273 | Shock | 1 |
| HP:0032204 | Chronic active Epstein-Barr virus infection | 1 |
| HP:0100242 | 肉腫 | 1 |
| HP:0100537 | 筋膜炎 | 1 |
| HP:0100614 | 筋炎 | 1 |
| HP:0100665 | 血管性浮腫 | 1 |
| HP:0100827 | リンパ球増多症 | 1 |