eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autoimmune lymphoproliferative syndrome | ||||
| Disease ID | 77 |
|---|---|
| Disease | autoimmune lymphoproliferative syndrome |
| Definition | Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY. |
| Synonym | alps alps (autoimmune lymphoproliferative syndrome) autoimmun lymphprof synd autoimmune lymphoproliferative syndrome (disorder) autoimmune lymphoproliferative syndrome [disease/finding] autoimmune lymphoproliferative syndrome, type i, autosomal dominant autoimmune lymphoproliferative syndromes canale smith syndrome canale-smith syndrome canale-smith syndromes lymphoproliferative syndrome, autoimmune lymphoproliferative syndromes, autoimmune syndrome, autoimmune lymphoproliferative syndrome, canale smith syndrome, canale-smith syndromes, autoimmune lymphoproliferative syndromes, canale-smith |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1328840 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0024299 | lymphoma | 3 C0027697 | nephritis | 1 C0272126 | evans syndrome | 1 C0281963 | red cell aplasia | 1 C0031036 | polyarteritis nodosa | 1 C0042164 | uveitis | 1 C0041349 | tubulointerstitial nephritis | 1 C0027873 | neuromyelitis optica | 1 C0027707 | interstitial nephritis | 1 C1261473 | sarcoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:52) 220 | ALDH1A3 | 1.722 | DISEASES 262 | AMD1 | 2.875 | DISEASES 415 | ARSE | 1.219 | DISEASES 538 | ATP7A | 1.379 | DISEASES 10018 | BCL2L11 | 2.071 | DISEASES 64170 | CARD9 | 1.572 | DISEASES 841 | CASP8 | 4.543 | DISEASES 842 | CASP9 | 1.597 | DISEASES 57126 | CD177 | 1.073 | DISEASES 914 | CD2 | 1.47 | DISEASES 940 | CD28 | 2.092 | DISEASES 921 | CD5 | 1.86 | DISEASES 926 | CD8B | 1.641 | DISEASES 1147 | CHUK | 1.219 | DISEASES 1289 | COL5A1 | 2.673 | DISEASES 1290 | COL5A2 | 2.924 | DISEASES 1382 | CRABP2 | 1.529 | DISEASES 9249 | DHRS3 | 2.704 | DISEASES 10059 | DNM1L | 1.064 | DISEASES 81704 | DOCK8 | 2.532 | DISEASES 355 | FAS | 5.891 | DISEASES 356 | FASLG | 4.769 | DISEASES 2317 | FLNB | 1.482 | DISEASES 50943 | FOXP3 | 2.48 | DISEASES 3586 | IL10 | 2.983 | DISEASES 3594 | IL12RB1 | 1.329 | DISEASES 3702 | ITK | 1.174 | DISEASES 10219 | KLRG1 | 2.953 | DISEASES 987 | LRBA | 2.105 | DISEASES 84061 | MAGT1 | 3.257 | DISEASES 2475 | MTOR | 1.239 | DISEASES 4615 | MYD88 | 1.108 | DISEASES 4671 | NAIP | 1.283 | DISEASES 23218 | NBEAL2 | 1.529 | DISEASES 58484 | NLRC4 | 1.103 | DISEASES 4893 | NRAS | 2.786 | DISEASES 192111 | PGAM5 | 2.842 | DISEASES 5238 | PGM3 | 1.952 | DISEASES 5336 | PLCG2 | 1.36 | DISEASES 5580 | PRKCD | 3.39 | DISEASES 5781 | PTPN11 | 1.107 | DISEASES 5788 | PTPRC | 1.081 | DISEASES 5873 | RAB27A | 1.388 | DISEASES 4068 | SH2D1A | 2.531 | DISEASES 347734 | SLC35B2 | 1.238 | DISEASES 83650 | SLC35G5 | 1.179 | DISEASES 6693 | SPN | 1.403 | DISEASES 6696 | SPP1 | 1.229 | DISEASES 6613 | SUMO2 | 1.587 | DISEASES 340061 | TMEM173 | 2.037 | DISEASES 7124 | TNF | 1.768 | DISEASES 6375 | XCL1 | 1.389 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 77 |
|---|---|
| Disease | autoimmune lymphoproliferative syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0001973 | Autoimmune thrombocytopenia HP:0002240 | Enlarged liver HP:0001891 | Iron-deficiency anemia HP:0003453 | Antineutrophil antibodies HP:0001904 | Autoimmune neutropenia HP:0001890 | Autoimmune hemolytic anemia HP:0003261 | Elevated IgA HP:0002845 | Increased number of peripheral CD3+ T cells HP:0003613 | Antiphospholipid antibodies HP:0003454 | Platelet antibody HP:0002923 | Rheumatoid factor positive HP:0002729 | Follicular hyperplasia HP:0002851 | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors HP:0002972 | Decreased reactivity to skin test antigens HP:0002853 | Increased proportion of HLA DR+ and CD57+ T cells HP:0002731 | Defective lymphocyte apoptosis HP:0002633 | Vasculitis HP:0003262 | Smooth muscle antibody positivity HP:0001025 | Hives HP:0002730 | Chronic noninfectious lymphadenopathy HP:0001744 | Splenomegaly HP:0003237 | Increased IgG level HP:0003496 | Increased levels of IgM HP:0004844 | Coombs-positive hemolytic anemia HP:0003493 | Elevated antinuclear antibody HP:0001880 | Eosinophilia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0002665 | Lymphoma | 3 HP:0000123 | Nephritis | 1 HP:0100806 | Sepsis | 1 HP:0012410 | Pure red cell aplasia | 1 HP:0001744 | Splenomegaly | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0000554 | Uveitis | 1 HP:0001970 | Interstitial nephritis | 1 HP:0100242 | Sarcoma | 1 |
| Disease ID | 77 |
|---|---|
| Disease | autoimmune lymphoproliferative syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0024299 | lymphoma | 1 C0031036 | polyarteritis nodosa | 1 C0042164 | uveitis | 1 C0334663 | histiocytic sarcoma | 1 |
Manually Genotype(Total Manually Genotypes:34) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| FAS | Missense, c.20T>C, p.L7P | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.30+1G>A, p.L10LfsX13 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Deletion, c.46_47delGC, p.A16X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Nonsense, c.53T>G, p.L18X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Insertion, c.124insA, p.T42NfsX4 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Nonsense, c.133G>T, p.E45X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Nonsense, c.189T>A, p.C63X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.197–1G>A, p.P65_G110del | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Deletion, c.252_256del5, p.C85RfsX19 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Nonsense, c.273C>A, p.Y91X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Missense, c.323A>G, p.D108G | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Deletion, c.324_326delTGA, p.D108del | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Missense, c.332A>G, p.H111R | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.341A>T, p.G112DfsX37 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Complex, c.397_398delTTinsA, p.F133IfsX52 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Missense, c.404G>A, p.C135Y | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.443+5G>A, p.G66Ddel82fsX37 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Complex, c.475_489del15insA, p.L159KfsX10 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.506–6C>G, p.G169_W189del | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.506–16A>G, p.G169_W189del | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Deletion, c.522delGGGG, p.L174FfsX12 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Nonsense, c.528G>A, p.W176X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.568G>A, p.G169_W189del | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.569–5T>G, p.V190GfsX7 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Insertion, c.585insA, p.Q196TfsX16 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Nonsense, c.607A>T, p.R203X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.651+2T>A, p.V190GfsX2 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.651+5G>T, p.V190GfsX2 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.651+1G>Aa, p.V190GfsX2 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.676+2T>C, p.E218MfsX4 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.676+1G>A, p.E218MfsX4 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Splice, c.676+1G>T, p.E218MfsX4 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Complex, c.686del9insGAG, p.L229X | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
| FAS | Deletion, c.985_1008*4del28, p.N329KfsX21 | doi:10.1038/gim.0b013e3182310b7d | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28929498 | 20935634 | 355 | FAS | umls:C1328840 | UNIPROT | The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. | 0.462725172 | 2010 | FAS | 10 | 89014221 | A | T |
| rs587776450 | NA | 356 | FASLG | umls:C1328840 | CLINVAR | NA | 0.322171535 | NA | FASLG | 1 | 172659464 | T | - |
| rs80358238 | NA | 356 | FASLG | umls:C1328840 | CLINVAR | NA | 0.322171535 | NA | FASLG | 1 | 172665636 | A | G |
| rs80358238 | 17605793 | 356 | FASLG | umls:C1328840 | BeFree | We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein's extracellular Fas-binding region. | 0.322171535 | 2007 | FASLG | 1 | 172665636 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001973 | Autoimmune thrombocytopenia | MP:0003179 | thrombocytopenia | fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation |
| HP:0003237 | Increased IgG level | MP:0009356 | decreased liver triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0003493 | Antinuclear antibody positivity | MP:0004762 | increased anti-double stranded DNA antibody level | increase in the level of antibodies that recognize double stranded DNA |
| HP:0003454 | Platelet antibody positive | MP:0004794 | increased anti-nuclear antigen antibody level | elevated level of antibodies to nuclear antigens present in the sera |
| HP:0003453 | Antineutrophil antibody positivity | MP:0004794 | increased anti-nuclear antigen antibody level | elevated level of antibodies to nuclear antigens present in the sera |
| HP:0003261 | Increased IgA level | MP:0009356 | decreased liver triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0002845 | Increased number of peripheral CD3+ T cells | MP:0008346 | increased gamma-delta T cell number | greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| HP:0002731 | Defective lymphocyte apoptosis | MP:0012701 | increased embryonic neuroepithelium apoptosis | increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death |
| HP:0002853 | Increased proportion of HLA DR+ and CD57+ T cells | MP:0008346 | increased gamma-delta T cell number | greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| HP:0003262 | Smooth muscle antibody positivity | MP:0005489 | vascular smooth muscle hyperplasia | increased numbers of smooth muscle cells in the vascular wall |
| HP:0002729 | Follicular hyperplasia | MP:0010945 | lung epithelium hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the epithelial layer of the lung |
| HP:0002972 | Reduced delayed hypersensitivity | MP:0005615 | increased susceptibility to type III hypersensitivity reaction | greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via antibodies encountering circulating antigen; Ag-Ab complexes then deposit in tissues (especially blood vessels and glo |
| HP:0004844 | Coombs-positive hemolytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0002923 | Rheumatoid factor positive | MP:0008553 | increased circulating tumor necrosis factor level | greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increas |
| HP:0003496 | Increased IgM level | MP:0009356 | decreased liver triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0002851 | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors | MP:0008346 | increased gamma-delta T cell number | greater number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
| HP:0003613 | Antiphospholipid antibody positivity | MP:0004762 | increased anti-double stranded DNA antibody level | increase in the level of antibodies that recognize double stranded DNA |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0001891 | Iron deficiency anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
Mapped by homologous gene(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004844 | Coombs-positive hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002845 | Increased number of peripheral CD3+ T cells | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003262 | Smooth muscle antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001880 | Eosinophilia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002923 | Rheumatoid factor positive | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002729 | Follicular hyperplasia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002731 | Defective lymphocyte apoptosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002972 | Reduced delayed hypersensitivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001904 | Autoimmune neutropenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003454 | Platelet antibody positive | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001891 | Iron deficiency anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003237 | Increased IgG level | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002851 | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002730 | Chronic noninfectious lymphadenopathy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003493 | Antinuclear antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003613 | Antiphospholipid antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003453 | Antineutrophil antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003496 | Increased IgM level | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001973 | Autoimmune thrombocytopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002853 | Increased proportion of HLA DR+ and CD57+ T cells | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003261 | Increased IgA level | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 77 |
|---|---|
| Disease | autoimmune lymphoproliferative syndrome |
| Case | (Waiting for update.) |