Autoimmune lymphoproliferative syndrome

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.



Input patient's signs and symptoms


Narrow down the case reports



Total: 97 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
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.
Splenomegaly Anemia Fever
CD4 CD8A FASLG IL10
Autoimmune Lymphoproliferative Syndrome Child Homo sapiens Male
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.
Hepatosplenomegaly Reticulocytopenia Normocytic anemia Abnormal lymphocyte apoptosis
Autoimmune Lymphoproliferative Syndrome Child Differential Diagnosis Drug Administration Schedule Females Glucocorticoids Hematologic Tests Hepatomegaly Homo sapiens Immunologic Factors Immunologic Tests Lymphadenopathy Pure Red-Cell Aplasia Splenomegaly
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.
Hepatosplenomegaly Hemolytic anemia Fever
CD4 CD8A IGHA1
Autoimmune Lymphoproliferative Syndrome CD95 Antigens Cell Count Homo sapiens Infant Male T-Lymphocyte Subsets
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.
Splenomegaly Hemolytic anemia Hepatomegaly
c|SUB|A|309|C
Antibodies, Antinuclear Autoimmune Lymphoproliferative Syndrome Homo sapiens Infant Male Splenomegaly T-Lymphocyte Thrombocytopenia
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.
Hepatosplenomegaly Splenomegaly Anemia
Autoimmune Lymphoproliferative Syndrome Fatal Outcome Females Hepatomegaly Homo sapiens Infant Infant, Newborn Male Splenomegaly T-Lymphocyte Thrombocytopenia
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.
Splenomegaly Hemolytic anemia
CD4 CD8A
Animals Cat Diseases Felis catus Females Genetic Predisposition to Disease Lymphadenopathy Lymphoproliferative Disorders Male Splenomegaly T-Cell Lymphoma
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.
Splenomegaly Coombs-positive hemolytic anemia
CD4 CD8A
Child Glucocorticoids Homo sapiens Immunosuppressive Agents Male Thrombocytopenia
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.
Splenomegaly Anemia
Females Growth Homo sapiens Infant Lymphoproliferative Disorders Male Splenectomy Splenomegaly
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.
Splenomegaly Anemia
c|DEL|930|TGCT
Autoimmune Diseases CD95 Antigens Child Fas-Associated Death Domain Protein Homo sapiens Lymphoproliferative Disorders Male Sequence Deletion
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.
Hepatosplenomegaly Hemolytic anemia
KRAS
c|SUB|G|13|C;RS#:121913535
Anemia, Hemolytic Child Females Homo sapiens Mutation Proto-Oncogene Proteins p21(ras)
        

Phenotype(s) retrieved from Orphanet

    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%)


Phenotype(s) retrieved from case reports

    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


Causative gene(s) retrieved from Orphanet

    Total: 6

Gene Symbol Gene Name Entrez Gene ID
CASP10 caspase 10 843
FAS Fas cell surface death receptor 355
FAS Fas cell surface death receptor 355
FASLG Fas ligand 356
PRKCD protein kinase C delta 5580
RASGRP1 RAS guanyl releasing protein 1 10125