| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 10 (48.9%) |
12736807 |
Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis. Kanegane H, Vilela MM, Wang Y, Futatani T, Matsukura H, Miyawaki T. Pediatr Nephrol. 2003;18(5):454-6. |
| Glomerulonephritis Hepatosplenomegaly Hemolytic anemia | ||
| c|SUB|G|IVS4+1|A | ||
| Apoptosis Autoimmune Diseases Brazil CD95 Antigens Child Glomerulonephritis Homo sapiens Lymphoproliferative Disorders Male Point Mutation | ||
| 10 (48.9%) |
12657942 |
FAS gene mutation in a case of autoimmune lymphoproliferative syndrome type IA with accumulation of gammadelta+ T cells. van den Berg A, Tamminga R, de Jong D, Maggio E, Kamps W, Poppema S. Am J Surg Pathol. 2003;27(4):546-53. |
| Hepatosplenomegaly Anemia | ||
| CD4 CD8A IFNG IL10 | ||
| Autoimmune Diseases CD95 Antigens Females Homo sapiens Infant Lymphoproliferative Disorders Mutation T-Lymphocyte | ||
| 13 (48.0%) |
17301439 |
Autoimmune lymphoproliferative syndrome; a case report. Alavi S, Taghi Arzanian M, Chavoshzadeh Z, Esteghamati M. Iran J Allergy Asthma Immunol. 2005;4(3):149-52. |
| Epistaxis Petechiae Splenomegaly Fever | ||
| CD4 CD8A | ||
| 14 (46.2%) |
21626105 |
Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection. Nomura K, Kanegane H, Otsubo K, Wakiguchi H, Noda Y, Kasahara Y, Miyawaki T. Int J Hematol. 2011;93(6):760-764. |
| Hepatosplenomegaly Splenomegaly Fever Lymphoproliferative disorder | ||
| Adult Autoimmune Lymphoproliferative Syndrome CD95 Antigens Child Child, Preschool Epstein-Barr Virus Infections Homo sapiens Infant Male Mutation Natural Killer Cells RNA Splice Sites T-Lymphocyte Subsets Young Adult | ||
| 14 (46.2%) |
21382177 |
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N. Int J Immunogenet. 2011;38(4):287-93. |
| Hepatosplenomegaly Splenomegaly Thrombocytopenia Fever | ||
| CASP10 | ||
| Base Sequence Child Chromosomes, Human, Pair 2 Exons Females Gene Order Genome-Wide Association Study Homo sapiens Molecular Sequence Data Sequence Alignment Sequence Deletion Single Nucleotide Polymorphism T-Lymphocyte Subsets | ||
| 16 (46.0%) |
18820932 |
Autoimmune lymphoproliferative syndrome-like syndrome presented as lupus-like syndrome with mycobacterial joint infection evolved into the lymphoma. Hong YH, Lee CK. Rheumatol Int. 2009;29(5):569-73. |
| Telangiectasia Hepatosplenomegaly Pleural effusion Hemophagocytosis | ||
| Anti-Bacterial Agents Anti-Inflammatory Agents, Non-Steroidal Autoimmune Diseases Diffuse Large B-Cell Lymphoma Females Glucocorticoids Homo sapiens Joints Lupus Erythematosus, Systemic Lymphoproliferative Disorders Middle Aged Mycobacterium Infections Syndrome | ||
| 17 (44.2%) |
27979843 (5174767) |
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. Leal-Seabra F, Costa GS, Coelho HP, Oliveira A. BMJ Case Rep. 2016;2016:. |
| Hepatosplenomegaly Thrombocytopenia Fever | ||
| IL10 | ||
| Adult Autoimmune Lymphoproliferative Syndrome Biopsy Differential Diagnosis Homo sapiens Male T-Lymphocyte X-Ray Computed Tomography | ||
| 18 (41.8%) |
12454704 |
Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature. Oren H, Ozkal S, Gulen H, Duman M, Ucar C, Atabay B, Yilmaz S, Kargi A, Irken G. Ann Hematol. 2002;81(11):651-3. |
| Purpura Splenomegaly | ||
| CD4 CD8A FASLG | ||
| Autoimmune Diseases Females Hepatomegaly Homo sapiens Immunophenotyping Infant Lymphoproliferative Disorders Splenomegaly T-Lymphocyte Subsets | ||
| 18 (41.8%) |
9108407 |
Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Dianzani U, Bragardo M, DiFranco D, Alliaudi C, Scagni P, Buonfiglio D, Redoglia V, Bonissoni S, Correra A, Dianzani I, Ramenghi U. Blood. 1997;89(8):2871-9. |
| Purpura Splenomegaly | ||
| CD4 CD8A FAS | ||
| Adult Apoptosis Autoimmune Diseases CD95 Antigens Child, Preschool DNA Mutational Analysis DNA, Complementary Females Homo sapiens Infant Lymphocyte Activation Lymphoproliferative Disorders Male Signal Transduction Single-Stranded Conformational Polymorphism T-Lymphocyte Subsets Thrombocytopenia | ||
| 20 (40.0%) |
29864493 |
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. Gu H, Ma J, Chen Z, Wang J, Zhang R, Wu R. Gene. 2018;672:45-49. |
| Splenomegaly Thrombocytopenia Hepatomegaly | ||
| CD4 CD8A FOXP3 IFNG IL10 IL6 UNC13D | ||
| c|DUP|236|A| c|SUB|G|2588|A;RS#:140184929 c|SUB|T|234|G p|FS|P|80|T|26 p|SUB|D|78|E p|SUB|G|863|D;RS#:140184929 rs140184929 | ||
| Autoimmune Lymphoproliferative Syndrome Base Sequence CD95 Antigens Child China DNA Mutational Analysis Epistasis, Genetic Genetic Association Studies Homo sapiens Male Membrane Proteins |
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 |