Abstract is: Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. Normally, after infectious insult, the immune system down-regulates by increasing Fas expression on activated B and T lymphocytes and Fas-ligand on activated T lymphocytes. Fas and Fas-ligand interact to trigger the caspase cascade, leading to cell apoptosis. Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers.
rare disease | Q929833 |
class of disease | Q112193867 |
lymphoproliferative disorders | Q4165484 |
type IV hypersensitivity | Q7860879 |
P699 | Disease Ontology ID | DOID:6688 |
P557 | DiseasesDB | 33425 |
33424 | ||
P2888 | exact match | http://identifiers.org/doid/DOID:6688 |
http://purl.obolibrary.org/obo/DOID_6688 | ||
http://www.orpha.net/ORDO/Orphanet_3261 | ||
P646 | Freebase ID | /m/03qcbmd |
P4317 | GARD rare disease ID | 8686 |
P7464 | Genetics Home Reference Conditions ID | autoimmune-lymphoproliferative-syndrome |
P4229 | ICD-10-CM | D89.82 |
P7807 | ICD-11 ID (Foundation) | 1072688797 |
P1692 | ICD-9-CM | 279.41 |
P665 | KEGG ID | H00108 |
P486 | MeSH descriptor ID | D056735 |
P672 | MeSH tree code | C15.604.515.138 |
C16.320.089 | ||
C20.111.288 | ||
C20.683.515.124 | ||
P6366 | Microsoft Academic ID | 2778959938 |
P1748 | NCI Thesaurus ID | C37864 |
P492 | OMIM ID | 601859 |
601859 | ||
P10283 | OpenAlex ID | C2778959938 |
P1550 | Orphanet ID | 3261 |
P4233 | PatientsLikeMe condition ID | autoimmune-lymphoproliferative-syndrome |
P2892 | UMLS CUI | C1328840 |
P11143 | WikiProjectMed ID | Autoimmune lymphoproliferative syndrome |
P2293 | genetic association | FASLG | Q14866113 |
FAS | Q20970154 | ||
P1995 | health specialty | immunology | Q101929 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
P780 | symptoms and signs | lymphadenopathy | Q847726 |
splenomegaly | Q1129121 | ||
hepatomegaly | Q1362864 |
Q66346840 | Fluorodeoxyglucose Imaging Studies to Detect Lymphoma |
Q66034943 | Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma |
Q66344455 | Immune Disorder HSCT Protocol |
Q66059675 | Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome |
Q66035460 | Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome |
Q65386378 | Sirolimus for Autoimmune Disease of Blood Cells |
Q66061335 | Study of Autoimmune Lymphoproliferative Syndrome (ALPS) |
Q64725151 | Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) |
Q19000630 | ALPS-associated lymphoma |
Q18217139 | RAS-associated autoimmune leukoproliferative disorder |
Q55015272 | Type 2 Autoimmune Lymphoproliferative Syndrome |
Q55015271 | autoimmune lymphoproliferative syndrome type 1b |
Q27677633 | autoimmune lymphoproliferative syndrome type 2A |
Q19001032 | autoimmune lymphoproliferative syndrome type 3 |
Q24975366 | caspase-8 deficiency |
Q19000826 | type 1a ALPS |
Q91122816 | 18F-FDG PET Imaging Features of Patients With Autoimmune Lymphoproliferative Syndrome |
Q48283620 | A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats |
Q55689204 | A case of autoimmune lymphoproliferative syndrome in a 3 years-old patient. |
Q28215936 | A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome |
Q34564711 | A genetic disorder of lymphocyte apoptosis involving the fas pathway: the autoimmune lymphoproliferative syndrome |
Q36454970 | A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. |
Q42656563 | A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect |
Q41753947 | A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome |
Q28246980 | A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation |
Q74518058 | Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome |
Q51067865 | Abnormal thymic maturation and lymphoproliferation in MRL-Fas lpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. |
Q57078463 | Accessory spleen: Differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome |
Q87027678 | Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation |
Q24623371 | Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS) |
Q33432738 | An autoimmune lymphoproliferative syndrome initially diagnosed as Evans syndrome |
Q33328425 | An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome |
Q57384581 | Analysis of the CD95 ligand gene in 20 children with autoimmune lymphoproliferative syndrome (ALPS) |
Q26799956 | Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome |
Q39041178 | Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant |
Q40625550 | Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation |
Q26830655 | Autoimmune Lymphoproliferative Syndrome |
Q58956859 | Autoimmune Lymphoproliferative Syndrome (ALPS) Caused by Fas (CD95) Mutation Mimicking Sarcoidosis |
Q33392331 | Autoimmune Lymphoproliferative Syndrome (ALPS) in a Boy with Massive Lymphadenopathy |
Q47616402 | Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. |
Q90122172 | Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection |
Q34393868 | Autoimmune Lymphoproliferative Syndrome and Epstein-Barr Virus-Associated Lymphoma: An Adjunctive Diagnostic Role for Monitoring EBV Viremia? |
Q57078472 | Autoimmune Lymphoproliferative Syndrome and Perforin |
Q104614056 | Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia and Newly Diagnosed Lymphoma |
Q92552917 | Autoimmune Lymphoproliferative Syndrome with Cryptococcus Infection |
Q50445553 | Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. |
Q55297581 | Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. |
Q41479441 | Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. |
Q92927761 | Autoimmune Lymphoproliferative Syndrome: An Overview |
Q40289454 | Autoimmune lymphoproliferative syndrome |
Q28181118 | Autoimmune lymphoproliferative syndrome |
Q82110001 | Autoimmune lymphoproliferative syndrome |
Q95401125 | Autoimmune lymphoproliferative syndrome |
Q73530408 | Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? |
Q60261809 | Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation |
Q35061376 | Autoimmune lymphoproliferative syndrome (ALPS). |
Q33392097 | Autoimmune lymphoproliferative syndrome (ALPS). Case report and family history. |
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Q37098499 | Autoimmune lymphoproliferative syndrome (ALPS): a rare cause of immune cytopenia. |
Q43412969 | Autoimmune lymphoproliferative syndrome and non-Hodgkin lymphoma: what 18F-fluorodeoxyglucose positron emission tomography/computed tomography can do in the management of these patients? Suggestions from a case report. |
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Q51740774 | Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. |
Q37298573 | Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation |
Q40372307 | Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. |
Q57459694 | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance |
Q39413664 | Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
Q50712296 | Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. |
Q33377742 | Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene |
Q80547251 | Autoimmune lymphoproliferative syndrome in a patient with common variable immunodeficiency: dichotomy of apoptosis |
Q85741434 | Autoimmune lymphoproliferative syndrome in pregnancy: a case of favorable mother-fetal outcome in a well-controlled disease |
Q40323202 | Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection. |
Q28299956 | Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis |
Q73368264 | Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis |
Q34265242 | Autoimmune lymphoproliferative syndrome type III, an indefinite disorder |
Q34244530 | Autoimmune lymphoproliferative syndrome type III: an indefinite disorder |
Q34389314 | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance |
Q33415763 | Autoimmune lymphoproliferative syndrome with neonatal onset |
Q28285625 | Autoimmune lymphoproliferative syndrome with somatic Fas mutations |
Q73673045 | Autoimmune lymphoproliferative syndrome(ALPS) |
Q33790355 | Autoimmune lymphoproliferative syndrome, a disorder of apoptosis |
Q87224348 | Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation |
Q34148939 | Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. |
Q40408652 | Autoimmune lymphoproliferative syndrome-like syndrome presented as lupus-like syndrome with mycobacterial joint infection evolved into the lymphoma |
Q36004373 | Autoimmune lymphoproliferative syndrome. |
Q34114550 | Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lymphocyte survival |
Q26775016 | Autoimmune lymphoproliferative syndrome: a case report and literature review |
Q80289294 | Autoimmune lymphoproliferative syndrome: a cause of chronic splenomegaly, lymphadenopathy, and cytopenias in children-report on diagnosis and management of five patients |
Q42392801 | Autoimmune lymphoproliferative syndrome: a multifactorial disorder |
Q78000052 | Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features |
Q26825740 | Autoimmune lymphoproliferative syndrome: an update and review of the literature |
Q35074313 | Autoimmune lymphoproliferative syndrome: etiology, diagnosis, and management |
Q79776588 | Autoimmune lymphoproliferative syndrome: meticulous care for diagnosis |
Q34513178 | Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype |
Q48248134 | Autoimmune lymphoproliferative syndrome: molecular diagnosis in two families |
Q47151016 | Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. |
Q28308285 | Autoimmune lymphoproliferative syndrome: new approaches to diagnosis and management |
Q35010247 | Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature |
Q42810256 | Autoimmune lymphoproliferative syndrome: response to mycophenolate mofetil and pyrimethamine/sulfadoxine in a 5-year-old child |
Q34337550 | Autoimmune lymphoproliferative syndrome: types I, II and beyond |
Q40457707 | Autoimmune lymphoproliferative syndrome; a case report. |
Q36612341 | Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? |
Q95658658 | Bartonella endocarditis mimics the clinical and immunologic findings of autoimmune lymphoproliferative syndrome |
Q36070873 | Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome |
Q37618832 | Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation |
Q88945281 | CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome |
Q64059809 | Case report of a molar-root incisor malformation in a patient with an autoimmune lymphoproliferative syndrome |
Q28300792 | Causes and consequences of the autoimmune lymphoproliferative syndrome |
Q73064451 | Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity |
Q47638176 | Childhood linear IgA disease in association with autoimmune lymphoproliferative syndrome |
Q53318174 | Childhood polyarteritis nodosa in autoimmune lymphoproliferative syndrome. |
Q44455328 | Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis |
Q51037855 | Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency. |
Q30838565 | Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome |
Q44256356 | Common expression of an unusual CD45 isoform on T cells from patients with large granular lymphocyte leukaemia and autoimmune lymphoproliferative syndrome |
Q77169432 | Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation |
Q92106977 | Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS) |
Q61696172 | Cutaneous Manifestations as Presenting Sign of Autoimmune Lymphoproliferative Syndrome in Childhood |
Q57078478 | Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS) |
Q41428240 | Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. |
Q35132088 | Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. |
Q77787538 | Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease |
Q47560713 | Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. |
Q36708937 | Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease |
Q33333768 | Description of serologic features in autoimmune lymphoproliferative syndrome. |
Q33818169 | Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease |
Q28263161 | Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations |
Q36862333 | Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults |
Q89149470 | Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS) |
Q57078476 | Diffuse large B-cell non-Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome |
Q38791611 | Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome |
Q46733727 | Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome |
Q78445495 | Dominant expression of interleukin 10 but not interferon gamma in CD4(-)CD8(-)alphabetaT cells of autoimmune lymphoproliferative syndrome |
Q33289658 | Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib |
Q55670225 | Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome |
Q58553724 | EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency |
Q33343951 | Effect of anti-CD20 (rituximab) on resistant thrombocytopenia in autoimmune lymphoproliferative syndrome |
Q35840445 | Elevated vitamin B₁₂ levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes |
Q59291525 | Eosinophilia is associated with a higher mortality rate among patients with autoimmune lymphoproliferative syndrome |
Q89907334 | Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats |
Q33405179 | Erythematous rash following romiplostim administration in a patient with autoimmune lymphoproliferative syndrome |
Q42325007 | Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome |
Q33394404 | Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. |
Q73018952 | Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome |
Q51647360 | FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. |
Q33347162 | FAS gene mutation in a case of autoimmune lymphoproliferative syndrome type IA with accumulation of gammadelta+ T cells |
Q28235519 | FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome |
Q28307801 | FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function |
Q58435123 | Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis |
Q46908424 | Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). |
Q43641873 | Forced miR-146a expression causes autoimmune lymphoproliferative syndrome in mice via downregulation of Fas in germinal center B cells |
Q38641601 | Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. |
Q40323055 | Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome |
Q43124182 | Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome |
Q89107783 | Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear |
Q34463767 | HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). |
Q50477130 | Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. |
Q38442307 | Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome |
Q24633207 | How I treat autoimmune lymphoproliferative syndrome |
Q42659751 | Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cells |
Q48019243 | Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model |
Q42492151 | Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. |
Q35130847 | IL-10/Janus kinase/signal transducer and activator of transcription 3 signaling dysregulates Bim expression in autoimmune lymphoproliferative syndrome |
Q97093766 | ITK deficiency presenting as Autoimmune Lymphoproliferative Syndrome |
Q51959865 | Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. |
Q33330741 | Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia. |
Q28270195 | Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study |
Q51017041 | IgG4-related disease in autoimmune lymphoproliferative syndrome. |
Q104566351 | Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS) |
Q62022597 | Immunomodulatory drugs in autoimmune lymphoproliferative syndrome (ALPS) |
Q74595817 | Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome |
Q36862548 | In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation |
Q48284203 | Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome. |
Q73850215 | Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression |
Q58049165 | Inherited Perforin andFasMutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma |
Q36361190 | Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome |
Q22010404 | Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II |
Q57078458 | Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers |
Q42700395 | Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). |
Q96773749 | Key diagnostic markers for Autoimmune Lymphoproliferative Syndrome with molecular genetic diagnosis |
Q96822731 | Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever |
Q73263849 | Light microscopic, immunophenotypic, and molecular genetic study of autoimmune lymphoproliferative syndrome caused by fas mutation |
Q54266664 | Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. |
Q62056316 | Lymphadenopathy driven by TCR-V8V1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome |
Q73062524 | Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis |
Q45981529 | Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patients. |
Q33373569 | Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome. |
Q35829141 | NRAS mutation causes a human autoimmune lymphoproliferative syndrome. |
Q37670054 | Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations |
Q90156752 | Neonatal Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report and A Brief Review |
Q83167368 | Neuromyelitis optica complicating autoimmune lymphoproliferative syndrome in a 4-year-old girl |
Q79316762 | Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome |
Q34239719 | New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome |
Q49973525 | Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients |
Q38845230 | Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). |
Q34428954 | Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation |
Q38823961 | Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children |
Q64892906 | Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS). |
Q35754536 | Pathological findings in human autoimmune lymphoproliferative syndrome |
Q53784626 | Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. |
Q33394927 | Pentostatin for treatment of refractory autoimmune lymphoproliferative syndrome |
Q53620902 | Positron emission tomography scan findings of autoimmune lymphoproliferative syndrome. |
Q52571131 | Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. |
Q38096379 | Posterior reversible encephalopathy syndrome in a child with autoimmune lymphoproliferative syndrome: Case report and review of literature |
Q100527937 | Protein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case from the National Iranian Registry and Review of the Literature |
Q40643362 | Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. |
Q28239313 | Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome |
Q47332604 | RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. |
Q33335780 | RBC autoantibodies in autoimmune lymphoproliferative syndrome |
Q24685850 | Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS) |
Q28251352 | Rapid regression of lymphadenopathy upon rapamycin treatment in a child with autoimmune lymphoproliferative syndrome |
Q40150826 | Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome |
Q45868784 | Report of a factor VIII inhibitor in a patient with autoimmune lymphoproliferative syndrome |
Q53316605 | Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation. |
Q50312944 | Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome |
Q38467986 | Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency |
Q28210645 | Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations |
Q24632569 | Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop |
Q33751250 | Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. |
Q33376403 | Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice-site mutation (IVS7+2 T>C) affecting the Fas gene |
Q50602615 | STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. |
Q55463858 | Secondary anaplastic astrocytoma developing in a young adult with autoimmune lymphoproliferative syndrome (ALPS). |
Q33944255 | Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome |
Q57078461 | Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation |
Q46195949 | Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly |
Q36885467 | Spotlight on autoimmune lymphoproliferative syndrome. |
Q90941275 | Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001;98(1):194-200 |
Q96688666 | Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture |
Q61053488 | Successful treatment of autoimmune lymphoproliferative syndrome and refractory autoimmune thrombocytopenic purpura with a reduced intensity conditioning stem cell transplantation followed by donor lymphocyte infusion |
Q88976649 | Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report |
Q39609044 | TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. |
Q74401877 | TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis |
Q57078448 | The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions |
Q87932280 | The Impact of Robot Assisted Therapy and Metacognitive Skills Training for Children With Hemiparesis |
Q55038036 | The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood. |
Q34195490 | The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis |
Q37695382 | The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance |
Q28264600 | The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis |
Q77577103 | The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis |
Q33952333 | The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis |
Q47720590 | The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency |
Q37978461 | Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome |
Q24650472 | Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome |
Q40251083 | Tubulointerstitial nephritis in a patient with probable autoimmune lymphoproliferative syndrome |
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Arabic (ar / Q13955) | مرض التكاثر الليمفاوي | wikipedia |
Autoimmune lymphoproliferative syndrome | wikipedia | |
Síndrome linfoproliferativo autoinmune | wikipedia | |
Syndrome lymphoprolifératif avec auto-immunité | wikipedia | |
Sindrom limfoproliferatif autoimun | wikipedia | |
Auto-immuun lymfoproliferatief syndroom | wikipedia |
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