| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 78 (9.2%) |
10412980 |
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ. Cell. 1999;98(1):47-58. |
| Autoimmunity | ||
| CASP10 FASLG TNFSF10 | ||
| rs13010627 rs17860403 rs80358239 | ||
| Adaptor Proteins, Signal Transducing Amino Acid Substitution Apoptosis Apoptosis Regulatory Proteins Autoimmune Diseases CD95 Antigens Carrier Proteins Child Cultured Cells DNA Primers Dendritic Cells Fas-Associated Death Domain Protein Females HeLa Cells Homeostasis Homo sapiens Lymphocyte Lymphoproliferative Disorders Membrane Glycoproteins Missense Mutation Recombinant Proteins Reverse Transcriptase Polymerase Chain Reaction Transfection Tumor Necrosis Factor Ligand Superfamily Member 6 Tumor Necrosis Factor-alpha | ||
| 78 (9.2%) |
8806292 |
Clinical, immunological, and pathological consequences of Fas-deficient conditions. Le Deist F, Emile JF, Rieux-Laucat F, Benkerrou M, Roberts I, Brousse N, Fischer A. Lancet. 1996;348(9029):719-23. |
| Autoimmunity | ||
| CD4 CD8A FAS FASLG | ||
| Anemia, Hemolytic Apoptosis Autoimmune Diseases CD Antigens CD95 Antigens Child, Preschool Females Homo sapiens Infant, Newborn Lymphoproliferative Disorders Male Mutation Neutropenia Organ Size Spleen Syndrome Thrombocytopenia | ||
| 93 (9.2%) |
23560015 (3611917) |
Posterior reversible encephalopathy syndrome in a child with autoimmune lymphoproliferative syndrome: Case report and review of literature. Chandramohan V, Nagarajan VP, Sathyamoorthi MS, Kumar S, Shanmugasundaram C, Periakaruppan G, Scott JX. J Pediatr Neurosci. 2012;7(3):221-4. |
| Hypertension | ||
| 94 (5.0%) |
30902077 |
Case report of a molar-root incisor malformation in a patient with an autoimmune lymphoproliferative syndrome. Pavli A, Vrecl M, Jan J, Bizjak M, Nemec A. BMC Oral Health. 2019;19(1):49. |
| Pulp stones | ||
| Autoimmune Lymphoproliferative Syndrome Child Dental Pulp Cavity Homo sapiens Incisor Male | ||
| 94 (5.0%) |
25670364 (5513489) |
Elevated interleukin-10: a new cause of dyslipidemia leading to severe HDL deficiency. Moraitis AG, Freeman LA, Shamburek RD, Wesley R, Wilson W, Grant CM, Price S, Demosky S, Thacker SG, Zarzour A, Hornung RL, Pucino F, Csako G, Yarboro C, McInnes IB, Kuroiwa T, Boumpas D, Rao VK, Illei GG, Remaley AT. J Clin Lipidol. 2015;9(1):81-90. |
| Arthritis | ||
| IL10 | ||
| Adult Arthritis, Psoriatic Autoimmune Lymphoproliferative Syndrome B-Cell Lymphomas CD95 Antigens Child Cohort Studies Diffuse Large B-Cell Lymphoma Dyslipidemias Enzyme-Linked Immunosorbent Assay Females High Density Lipoprotein Cholesterol Homo sapiens Infant Male Middle Aged Placebo Effect Recombinant Proteins Triglycerides | ||
| 94 (5.0%) |
25302402 |
Autoimmune lymphoproliferative syndrome in pregnancy: a case of favorable mother-fetal outcome in a well-controlled disease. Patti S, Perrone G, De Pratti V, Quinti I, Milito C, Brunelli R. J Obstet Gynaecol Res. 2015;41(3):460-3. |
| Premature rupture of membranes | ||
| Autoimmune Lymphoproliferative Syndrome Females High-Risk Pregnancy Homo sapiens Infant, Newborn Live Birth Male Pregnancy Pregnancy Complications Young Adult | ||
| 94 (5.0%) |
10802504 |
Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome. Shenoy S, Arnold S, Chatila T. J Pediatr. 2000;136(5):682-7. |
| Autism | ||
| Apoptosis Autistic Disorder Autoimmune Diseases CD95 Antigens Child, Preschool DNA Mutational Analysis Glucocorticoids Homo sapiens Lymphoproliferative Disorders Male Mutation |
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0002716 | Lymphadenopathy | Very frequent (99-80%) |
| HP:0002730 | Chronic noninfectious lymphadenopathy | Very frequent (99-80%) |
| HP:0002960 | Autoimmunity | Very frequent (99-80%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0001890 | Autoimmune hemolytic anemia | Frequent (79-30%) |
| HP:0001892 | Abnormal bleeding | Frequent (79-30%) |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | Frequent (79-30%) |
| HP:0001971 | Hypersplenism | Frequent (79-30%) |
| HP:0001973 | Autoimmune thrombocytopenia | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | Frequent (79-30%) |
| HP:0003237 | Increased circulating IgG level | Frequent (79-30%) |
| HP:0005404 | Increased B cell count | Frequent (79-30%) |
| HP:0010702 | Increased antibody level in blood | Frequent (79-30%) |
| HP:0030782 | Abnormal serum interleukin level | Frequent (79-30%) |
| HP:0000099 | Glomerulonephritis | Occasional (29-5%) |
| HP:0001025 | Urticaria | Occasional (29-5%) |
| HP:0001880 | Eosinophilia | Occasional (29-5%) |
| HP:0001888 | Lymphopenia | Occasional (29-5%) |
| HP:0001923 | Reticulocytosis | Occasional (29-5%) |
| HP:0002633 | Vasculitis | Occasional (29-5%) |
| HP:0002848 | Specific anti-polysaccharide antibody deficiency | Occasional (29-5%) |
| HP:0002850 | Decreased circulating total IgM | Occasional (29-5%) |
| HP:0002923 | Rheumatoid factor positive | Occasional (29-5%) |
| HP:0003212 | Increased circulating total IgE level | Occasional (29-5%) |
| HP:0003261 | Increased circulating IgA level | Occasional (29-5%) |
| HP:0003453 | Antineutrophil antibody positivity | Occasional (29-5%) |
| HP:0003493 | Antinuclear antibody positivity | Occasional (29-5%) |
| HP:0003613 | Antiphospholipid antibody positivity | Occasional (29-5%) |
| HP:0004315 | Decreased circulating IgG level | Occasional (29-5%) |
| HP:0004844 | Coombs-positive hemolytic anemia | Occasional (29-5%) |
| HP:0005407 | Decreased proportion of CD4-positive T cells | Occasional (29-5%) |
| HP:0012115 | Hepatitis | Occasional (29-5%) |
| HP:0012189 | Hodgkin lymphoma | Occasional (29-5%) |
| HP:0012190 | T-cell lymphoma | Occasional (29-5%) |
| HP:0012191 | B-cell lymphoma | Occasional (29-5%) |
| HP:0012539 | Non-Hodgkin lymphoma | 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 | Thyroiditis | Occasional (29-5%) |
| HP:0100827 | Lymphocytosis | Occasional (29-5%) |
| HP:0000083 | Renal insufficiency | Very rare (4-1%) |
| HP:0000554 | Uveitis | Very rare (4-1%) |
| HP:0000854 | Thyroid adenoma | Very rare (4-1%) |
| HP:0001250 | Seizures | Very rare (4-1%) |
| HP:0001369 | Arthritis | Very rare (4-1%) |
| HP:0001402 | Hepatocellular carcinoma | Very rare (4-1%) |
| HP:0001789 | Hydrops fetalis | Very rare (4-1%) |
| HP:0002113 | Pulmonary infiltrates | Very rare (4-1%) |
| HP:0002206 | Pulmonary fibrosis | Very rare (4-1%) |
| HP:0002315 | Headache | Very rare (4-1%) |
| HP:0002583 | Colitis | Very rare (4-1%) |
| HP:0002671 | Basal cell carcinoma | Very rare (4-1%) |
| HP:0002725 | Systemic lupus erythematosus | Very rare (4-1%) |
| HP:0002890 | Thyroid carcinoma | Very rare (4-1%) |
| HP:0005263 | Gastritis | Very rare (4-1%) |
| HP:0005528 | Bone marrow hypocellularity | Very rare (4-1%) |
| HP:0008069 | Neoplasm of the skin | Very rare (4-1%) |
| HP:0008209 | Premature ovarian insufficiency | Very rare (4-1%) |
| HP:0010619 | Fibroadenoma of the breast | Very rare (4-1%) |
| HP:0011107 | Recurrent aphthous stomatitis | Very rare (4-1%) |
| HP:0012490 | Panniculitis | Very rare (4-1%) |
| HP:0031020 | Bone marrow hypercellularity | Very rare (4-1%) |
| HP:0100648 | Neoplasm of the tongue | Very rare (4-1%) |
Total: 27
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002716 | Lymphadenopathy | 18 |
| HP:0001744 | Splenomegaly | 16 |
| HP:0002960 | Autoimmunity | 9 |
| HP:0008940 | Generalized lymphadenopathy | 3 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0001873 | Thrombocytopenia | 2 |
| HP:0005523 | Lymphoproliferative disorder | 2 |
| HP:0000952 | Jaundice | 1 |
| HP:0001025 | Urticaria | 1 |
| HP:0001369 | Arthritis | 1 |
| HP:0001747 | Accessory spleen | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001880 | Eosinophilia | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0002840 | Lymphadenitis | 1 |
| HP:0003419 | Low back pain | 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 | Sarcoma | 1 |
| HP:0100537 | Fasciitis | 1 |
| HP:0100614 | Myositis | 1 |
| HP:0100665 | Angioedema | 1 |
| HP:0100827 | Lymphocytosis | 1 |