A Síndrome Linfoproliferativa Autoimune (ALPS) é uma doença rara e genética. Ela se caracteriza por uma multiplicação de células de defesa (linfócitos) que não é câncer, pela diminuição de vários tipos de células do sangue e por um risco aumentado, ao longo da vida, de desenvolver linfomas (tipos de câncer do sistema linfático), como os linfomas de Hodgkin e não Hodgkin.
Introdução
O que você precisa saber de cara
A Síndrome Linfoproliferativa Autoimune (ALPS) é uma doença rara e genética. Ela se caracteriza por uma multiplicação de células de defesa (linfócitos) que não é câncer, pela diminuição de vários tipos de células do sangue e por um risco aumentado, ao longo da vida, de desenvolver linfomas (tipos de câncer do sistema linfático), como os linfomas de Hodgkin e não Hodgkin.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 83 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 173 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
8 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in v
Cell membraneMembrane raftSecreted
Autoimmune lymphoproliferative syndrome 1A
A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Plays an important role in the regulation of cell proliferation (PubMed:22711838, PubMed:23698361). Activates MAPK1/MAPK3 resulting in phosphorylation and ultimately degradation of GJA1 (By similarity). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306)
Cell membraneEndomembrane systemCytoplasm, cytosol
Leukemia, acute myelogenous
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regula
CytoplasmCytoplasm, perinuclear regionNucleusCell membraneMitochondrionEndomembrane system
Autoimmune lymphoproliferative syndrome 3
A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity.
Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic development and adulthood (PubMed:23516580, PubMed:35338844, PubMed:35446120, PubMed:8681376, PubMed:8681377, PubMed:8962078, PubMed:9006941, PubMed:9184224). Initiator protease that induces extrinsic apoptosis by mediating cleavage and activation of effector caspases responsible for FAS/CD95-mediated an
CytoplasmNucleusCell projection, lamellipodium
Caspase-8 deficiency
Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization.
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity
Cell membraneGolgi apparatus membrane
Leukemia, juvenile myelomonocytic
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Inhibitory receptor acting as a major negative regulator of T-cell responses (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:18641304, PubMed:28484017). Acts as a decoy receptor: the affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28 (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:28484017)
Cell membrane
Systemic lupus erythematosus
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis Isoform C is proteolytically inactive
Autoimmune lymphoproliferative syndrome 2A
A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells (PubMed:26334989, PubMed:9228058). Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development (PubMed:7528780, PubMed:9228058, PubMed:9427603). Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen-activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis also has
Cell membraneCytoplasmic vesicle lumenLysosome lumenSecretedNucleus
Autoimmune lymphoproliferative syndrome 1B
A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
Variantes genéticas (ClinVar)
729 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,418 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
72 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome linfoproliferativo autoimune
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17 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
Autoimmune hemolytic anemia (AIHA) with an isolated C3d+ direct antiglobulin test is a rare and understudied condition in children. It typically encompasses cold agglutinin syndrome and paroxysmal cold hemoglobinuria, both transient, infection-triggered disorders collectively referred to as cold AIHA. We report a national cohort of 142 pediatric patients with isolated C3d+ AIHA, representing 21.6% of all childhood AIHA cases enrolled in the French OBS'CEREVANCE cohort over a 32-year period. The median age at diagnosis was 3.2 years (male-to-female ratio, 1.3), and median follow-up was 2.8 years. Infectious symptoms were present in 63.4% of cases. At diagnosis, median hemoglobin was 6.4 g/dL; 69.7% of patients had inadequate reticulocytosis (bone marrow responsiveness index of <121), and 90.4% required transfusions. Eighteen patients (12.7%) had or developed immunopathological manifestations (IM) including 5 diagnosed with primary immunodeficiency (4 with autoimmune lymphoproliferative syndrome). Among 8 (5.6%) patients with relapsing disease, 6 had no IM at diagnosis but 4 developed IM at relapse. Nine patients were antinuclear antibodies (ANA) positive; none progressed to systemic lupus over a median follow-up of 4.9 years. Corticosteroids were administered to 82.4% of patients (median duration, 4.5 months), with no clear benefit over untreated patients regarding hospital stay or transfusion needs. No deaths were reported. In conclusion, pediatric isolated C3d+ AIHA generally follows a favorable course. However, a minority of patients may reveal underlying immune disorders, highlighting the importance of tailored evaluation at diagnosis. Cold agglutinin testing with thermal amplitude and Donath-Landsteiner testing, rarely performed in this cohort, warrant further study for their impact on diagnosis and clinical management.
Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.
Lymphoproliferation represents a common and clinically relevant feature across many Inborn Errors of Immunity (IEIs), reflecting the underlying immune dysregulation that characterizes these disorders. In affected individuals, lymphoproliferation may manifest along a broad clinical spectrum, ranging from benign forms such as lymphadenopathy, splenomegaly, and hepatomegaly to malignant transformation, including lymphoma and leukemia. Multiple and heterogeneous pathogenetic mechanisms contribute to lymphoproliferation in IEIs; however, they can be conceptually grouped into two major categories: excessive lymphocyte activation and proliferation, and defective control of proliferation. The association of lymphoproliferation with autoimmune cytopenia classically defined the Autoimmune Lymphoproliferative Syndrome (ALPS), caused by an impairment in FAS-mediated apoptosis. However, a growing number of IEIs present with overlapping autoimmune lymphoproliferative phenotypes driven by diverse monogenic defects or, in many cases, without an identifiable genetic cause. This expanding spectrum has led to the concept of autoimmune lymphoproliferative immunodeficiencies (ALPID), encompassing a continuum of disorders characterized by lymphoproliferation, autoimmunity and diverse genetic backgrounds, requiring disease-specific therapeutic approaches. This narrative review provides an overview of the main IEIs associated with lymphoproliferation focusing on pathogenic pathways, diagnostic evaluation and classification, and current and emerging targeted therapeutic approaches.
Monogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.
Introduction Monogenic neonatal diabetes mellitus (NDM) is a rare form of diabetes, presenting within the first six months of life and caused by pathogenic variants affecting pancreatic β-cell development or function. Because its initial presentation may overlap with type 1 diabetes, molecular diagnosis is crucial, as it directly influences prognosis and treatment - particularly the potential responsiveness to sulfonylureas in ATP-sensitive potassium (KATP)-channel-related NDM. This study reports a retrospective descriptive case series and aims to characterize the clinical and genetic features of infants with NDM, to improve therapeutic management and long-term outcomes. Materials and methods We conducted a retrospective descriptive case series of infants diagnosed with diabetes before six months of age, hospitalized in the Pediatric Endocrinology Unit of the Abderrahim Harouchi Mother-Child Hospital, Casablanca, Morocco, between January 2018 and December 2025. Clinical presentation, biochemical data, insulin requirements, genetic results, and outcomes were extracted from medical records. Genetic testing was performed through next-generation sequencing (NGS), or targeted Sanger sequencing when financially feasible. Results Ten infants were included (nine males and one female), with a mean age at diagnosis of 71 days. Diabetic ketoacidosis (DKA) was the presenting feature in all cases. Consanguinity was reported in 55% of families. Pathogenic or likely pathogenic variants were identified in six infants (60%), involving ABCC8, INS, EIF2AK3, CASP10, and chromosome 6q23-24 duplication, including two syndromic forms. Two infants with ABCC8 mutations achieved insulin independence with sulfonylurea therapy. Syndromic etiologies - Wolcott-Rallison syndrome, Donohue syndrome, and autoimmune lymphoproliferative syndrome type IIA (ALPS-type IIA) - were associated with severe multisystemic involvement. Three children had no identifiable pathogenic variant, despite clinical features consistent with NDM. Long-term outcomes varied widely, ranging from normal neurodevelopment to early mortality in Donohue syndrome. Conclusion This retrospective descriptive case series highlights the marked genetic heterogeneity and clinical variability of neonatal diabetes in a resource-limited setting. Genetic testing enabled precision therapy in infants harboring KATP-channel mutations and clarified prognosis in syndromic forms. Expanding access to molecular diagnostics remains essential to improve equity in care, optimize metabolic outcomes, and support individualized management strategies.
Long-Term Outcomes of Successful Treatment with Ruxolitinib in a Pediatric Patient with Autoimmune Lymphoproliferative Syndrome and a Signal Transducer and Activator of Transcription 3 Gain-of-Function Mutation.
Loss or gain-of-function mutations in signal transducer and transcription activator genes, classified as combined immunodeficiency, can present with highly heterogeneous and life-threatening clinical presentations. We report an adolescent girl who has combined immunodeficiency associated with signal transducer and activator of transcription 3 gain-of-function, c.1032G > C, p.Met344Ile located in exon 10, identified by a next-generation sequencing panel performed due to short stature, hepatosplenomegaly, and decreased levels of both immunoglobulin G and immunoglobulin M. At 12 years of age, the patient was referred to the pediatric hematology outpatient clinic owing to hepatosplenomegaly and pancytopenia after initiating growth hormone treatment due to short stature. On physical examination, bilateral multiple posterior and anterior cervical micro-lymphadenopathies were detected, her liver was palpated 6 cm below the costal margin, and her spleen was palpated 10 cm below the costalmargin. The whole blood count revealed a leukocyte count of 2,300/mm3, neutrophils of 1,330/mm3, lymphocytes of 730/mm3, hemoglobin of 8 g/dL, platelets of 96,000/mm3, and reticulocytes of 2%. The bone marrow biopsy revealed a cellularity of 30-35%. After steroid-dependent treatment resulted in Cushing syndrome and treatment with sirolimus was ineffective, treatment with ruxolitinib 20 mg twice daily significantly resolved cytopenias and hepatosplenomegaly due to autoimmune lymphoproliferative syndrome. Funktionsverlust- oder Funktionsgewinnmutationen in Signaltransduktor- und Transkriptionsaktivator-(STAT)-Genen, die als kombinierte Immundefekte klassifiziert werden, können sich mit sehr heterogenen und lebensbedrohlichen klinischen Manifestationen manifestieren. Wir berichten über ein jugendliches Mädchen mit einer STAT3-Funktionsgewinnmutation (GOF), c.1032G>C, p.Met344Ile in Exon 10, die mittels Next-Generation-Sequenzierung (NGS) identifiziert wurde. Die Untersuchung wurde aufgrund von Kleinwuchs, Hepatosplenomegalie, erniedrigten Immunglobulin-G- und Immunglobulin-M-Spiegeln durchgeführt. Im Alter von 12 Jahren wurde die Patientin aufgrund von Hepatosplenomegalie und Panzytopenie, die nach Beginn einer Wachstumshormontherapie aufgrund des Kleinwuchses auftraten, in die pädiatrische Hämatologie-Ambulanz überwiesen. Bei der körperlichen Untersuchung wurden beidseitig multiple zervikale Mikrolymphadenopathien, posteriore und anteriore, festgestellt. Die Leber war 6 cm und die Milz 10 cm unterhalb des Rippenbogens tastbar. Das Blutbild zeigte folgende Werte: Leukozyten 2300/mm³, Neutrophile 1330/mm³, Lymphozyten 730/mm³, Hämoglobin 8 g/dl, Thrombozyten 96 000/mm³ und Retikulozyten 2 %. Die Knochenmarkbiopsie ergab eine Zellularität von 30–35 %. Nach einer vorangegangenen steroidabhängigen Behandlung, die zu einem Cushing-Syndrom und einem Nichtansprechen auf Sirolimus führte, besserten sich die Zytopenien und die Hepatosplenomegalie signifikant unter der zweimal täglichen Gabe von 20 mg Ruxolitinib aufgrund eines autoimmunen lymphoproliferativen Syndroms (ALPS).
CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP).
Fas/FasL-mediated apoptosis is central to immune homeostasis and is implicated in autoimmune lymphoproliferative syndrome (ALPS) and immune thrombocytopenia (ITP). We aimed to compare whole-blood transcriptional levels of CASP8 and CASP3 across ALPS, chronic ITP, and healthy controls. CASP8 and CASP3 mRNA expression was quantified by real-time PCR in whole blood from clinically diagnosed ALPS patients, chronic ITP patients, and healthy controls. CASP8 mRNA expression was significantly increased in ALPS and ITP versus controls (p = 0.0009 and p < 0.0001, respectively) and was lower in ALPS than in ITP (p = 0.0265). CASP3 mRNA was also increased in both patient groups versus controls (ALPS: p = 0.0045; ITP: p < 0.0001), with no significant difference between ALPS and ITP (p = 0.1692). ALPS and chronic ITP show distinct CASP8 transcriptional patterns and a shared upregulation of CASP3 at the whole-blood mRNA level. These findings are descriptive and do not directly assess caspase activation or apoptotic pathway activity; further protein- and cell subset-based studies are needed to clarify functional implications.
Publicações recentes
A curated list of immune system associated genes related to cancer.
Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.
Monogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.
Long-Term Outcomes of Successful Treatment with Ruxolitinib in a Pediatric Patient with Autoimmune Lymphoproliferative Syndrome and a Signal Transducer and Activator of Transcription 3 Gain-of-Function Mutation.
CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP).
📚 EuropePMC317 artigos no totalmostrando 197
A curated list of immune system associated genes related to cancer.
BMC genomic dataLymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.
ImmunoTargets and therapyMonogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.
CureusLong-Term Outcomes of Successful Treatment with Ruxolitinib in a Pediatric Patient with Autoimmune Lymphoproliferative Syndrome and a Signal Transducer and Activator of Transcription 3 Gain-of-Function Mutation.
Klinische PadiatrieCASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP).
GenesAutoimmune lymphoproliferative syndrome in Boerboel dogs: treatment, clinical outcomes and prevention.
Journal of veterinary internal medicineAutoimmune lymphoproliferative syndrome in Boerboel dogs: clinicopathologic, diagnostic, and genetic characterization.
Journal of veterinary internal medicineLipid Nanoparticle Fas Gene Therapy Suppresses Autoimmune Lymphoproliferative Syndrome in Mice.
Blood immunology & cellular therapyTargeted deep sequencing identifies mosaicism in patients with immune dysregulation.
The Journal of allergy and clinical immunologyLeniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome.
Journal of human immunityGenetic Testing in Patients With Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
PediatricsDHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.
bioRxiv : the preprint server for biologyChallenges in diagnosis and management of pulmonary valve endocarditis associated with autoimmune lymphoproliferative syndrome (ALPS): A case report and literature review.
Radiology case reportsChildhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
Blood advancesDiffuse Large B-cell lymphoma in a Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).
Annals of hematologyLessons from the American College of Allergy, Asthma and Immunology inborn errors of immunity survey: Advancing diagnostic and therapeutic strategies for the practicing allergist-immunologist.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyA Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene.
Journal of clinical immunologyMalignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity.
Journal of clinical immunologyLong-term management of recurrent uveitis associated with autoimmune lymphoproliferative syndrome.
Journal of ophthalmic inflammation and infection[Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsCase Report: FAS spontaneous mutation in a familial hemophagocytic lymphohistiocytosis patient with a complex heterozygous mutation in PRF1.
Frontiers in immunologyEffectiveness of sirolimus for early on-set autoimmune cytopenias of autoimmune lymphoproliferative immunodeficiencies.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyT-Cell Receptor CRαβ+CD4-CD8- (Double-Negative) T Cells May Predict Pathological Kidney Findings in Patients with Suspected Lupus Nephritis.
NephronCase Report: Clinical, molecular, and functional characterization of autoimmune lymphoproliferative syndrome-a family study with a multimodal diagnosis.
Frontiers in pediatricsAtypical lymphoproliferations associated with germline genetic variants: a report of the 2024 EA4HP/SH lymphoma workshop.
Virchows Archiv : an international journal of pathologyClinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.
Orphanet journal of rare diseasesInborn errors of immunity presenting with lymphoproliferation: lessons from a case series.
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Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaHeterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.
British journal of haematologyThe Fas-mediated apoptosis assay: From concept to clinical application.
Journal of immunological methodsRASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma.
Pediatric allergy, immunology, and pulmonologyImpact of Anti-CD4 Autoantibodies on Immune Reconstitution in People With Advanced HIV.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of AmericaBeyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome.
Hematology. American Society of Hematology. Education ProgramNonspecific increase of αβTCR+ double-negative T cells in pediatric rheumatic diseases.
World journal of pediatrics : WJPFunctional role of UNC13D in immune diseases and its therapeutic applications.
Frontiers in immunologyNovel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS).
Journal of clinical immunologyWiskott-Aldrich Syndrome: A Report of a Rare X-Linked Disorder.
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Allergologia et immunopathologiaDouble-negative T cells in pediatric rheumatic diseases.
Clinical and experimental pediatricsA Rare Case of Retinal Vasculitis in a Patient With Autoimmune Lymphoproliferative Syndrome.
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The American journal of tropical medicine and hygieneFlow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.
Frontiers in immunology[Primary immunodeficiency disease based on ITK mutation: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyInfection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus.
Frontiers in immunologyRas-associated autoimmune lymphoproliferative disorder.
British journal of haematologyThe Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases.
Therapeutics and clinical risk managementStudy of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Cell death & diseaseLooking for ALPS: The value of a combined assessment of biochemical markers.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyUnveiling the Uncommon: A Unique Case of ALPS-like Syndrome Complicated by Plasma Cell Disorder.
Journal of pediatric hematology/oncologyMonoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells.
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American journal of hematologyProbable Autoimmune Lymphoproliferative Syndrome with Monogenic Lupus Due to KRAS Mutation.
Mediterranean journal of hematology and infectious diseasesValidation of Artificial Intelligence (AI)-Assisted Flow Cytometry Analysis for Immunological Disorders.
Diagnostics (Basel, Switzerland)Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Journal of clinical immunologyDiagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
The Lancet. HaematologyDouble-Negative T (DNT) Cells in Patients with Systemic Lupus Erythematosus.
BiomedicinesNon-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.
Science immunologyOpinion paper: effectiveness of sirolimus in treating partial Di George syndrome with autoimmune lymphoproliferative syndrome-like features.
Frontiers in pediatricsLate-Onset Autoimmune Lymphoproliferative Syndrome in a Costa Rican Woman.
CureusA case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant.
Pediatric hematology and oncologyAbnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
The Journal of allergy and clinical immunologyAutoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.
The Journal of allergy and clinical immunologyCharacterizing the regulatory Fas (CD95) epitope critical for agonist antibody targeting and CAR-T bystander function in ovarian cancer.
Cell death and differentiationUnderstanding the Spectrum of Immune Dysregulation Manifestations in Autoimmune Lymphoproliferative Syndrome and Autoimmune Lymphoproliferative Syndrome-like Disorders.
Rheumatic diseases clinics of North AmericaGuardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management.
CureusPhenotypic Variability in PRKCD: a Review of the Literature.
Journal of clinical immunologyCombined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
The Journal of allergy and clinical immunologyBilateral Panuveitis in an Adolescent with Autoimmune Lymphoproliferative Syndrome Due to CTLA4 Haploinsufficiency.
Ocular immunology and inflammationAutoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation.
Molecular and cellular pediatricsAutoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.
Autoimmunity reviewsSevere RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features.
Journal of clinical immunologyThe role of caspase-8 in inflammatory signalling and pyroptotic cell death.
Seminars in immunologySummer rain and wet soil rather than management affect the distribution of a toxic plant in production grasslands.
Scientific reportsAutoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene.
Immunologic researchThe impact of Treosulfan-based conditioning for inborn errors of immunity: Is dose monitoring crucial?
Clinical transplantationCutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome.
Journal of clinical immunologyEcodatacube.eu: analysis-ready open environmental data cube for Europe.
PeerJExpanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway.
British journal of haematologyCase report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus.
Frontiers in pediatricsChai Disease Mimicking Autoimmune Lymphoproliferative Syndrome.
Indian journal of pediatricsCase report: Synergistic defects of CASP10 and BTK leading to autoimmune lymphoproliferative syndrome type IIa, complicated by severe hemophagocytic lymphohistiocytosis.
Immunologic researchSevere autoimmune lymphoproliferative syndrome phenotype in a pediatric patient with a germline FAS gene variant.
Pediatric blood & cancerAutoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
HemaSphereClinical, immunologic, and genetic characteristics of children with ALPS: A single-center experience.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyAutoimmune lymphoproliferative syndrome identified through reverse phenotyping.
Central-European journal of immunologyCase report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features.
Frontiers in pediatricsRevisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
The Journal of allergy and clinical immunologyUnusual Polyclonal IgM in an IgG Deficient Patient with Autoimmune Lymphoproliferative Syndrome: A Case Study and Literature Review.
Annals of clinical and laboratory science[Autoimmune lymphoproliferative syndrome: a case report].
The Pan African medical journalDetection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Frontiers in immunologyRosai-Dorfman Disease between Proliferation and Neoplasia.
CancersP2X7 purinergic receptor plays a critical role in maintaining T-cell homeostasis and preventing lupus pathogenesis.
Frontiers in immunologyEosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.
Frontiers in immunologyRefractory immune thrombocytopenia: Lessons from immune dysregulation disorders.
Frontiers in medicineClinical and immunological analysis of a large kindred affected by autoimmune lymphoproliferative syndrome (ALPS) due to a novel TNFRSF6 mutation displaying age dependent disease activity.
Clinical immunology (Orlando, Fla.)Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients.
International journal of immunopathology and pharmacologyNovel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.
Journal of clinical immunologyAbnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome.
Frontiers in pediatricsCase report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio.
Frontiers in pediatricsDiagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation.
Journal of clinical medicineBeyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.
Frontiers in pediatricsClinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
The Journal of allergy and clinical immunologySuper-Resolution Imaging of Fas/CD95 Reorganization Induced by Membrane-Bound Fas Ligand Reveals Nanoscale Clustering Upstream of FADD Recruitment.
CellsUtility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Scientific reportsSirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
Frontiers in immunologyUnderlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Frontiers in immunologyStranded because of exhaustion while high-altitude mountaineering in the Swiss Alps: a retrospective nationwide study.
Scientific reportsDifferential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome.
International journal of molecular sciencesDeficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Frontiers in immunologyLipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review.
Iranian journal of allergy, asthma, and immunologyIncreased mTORC2 pathway activation in lymph nodes of iMCD-TAFRO.
Journal of cellular and molecular medicineCase Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
Frontiers in immunologyThe contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome.
Blood advancesA unique phenotype of longitudinal extensive transverse myelitis in autoimmune lymphoproliferative syndrome.
Journal of neuroimmunologyInborn errors of immunity and immunodeficiencies: Antibody-mediated pathology and autoimmunity as a consequence of impaired immune reactions.
European journal of immunologyPAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype.
Journal of clinical immunologyGenomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
The journal of allergy and clinical immunology. In practiceRheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.
Clinical rheumatology[Non-malignant, non-infectious lymphoproliferation: challenges in the diagnosis and treatment of autoimmune lymphoproliferative syndrome].
Orvosi hetilapCaspase-8 auto-cleavage regulates programmed cell death and collaborates with RIPK3/MLKL to prevent lymphopenia.
Cell death and differentiationALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.
Annals of hematologyAutoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.
Frontiers in immunologyCase Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge.
Frontiers in pediatricsSTAT3 gain-of-function mutation in an adult patient.
MedicinaImpact of human CD95 mutations on cell death and autoimmunity: a model.
Trends in immunologyFevers, Sweats, Weight Loss, Oh My! When IgG4 Related Disease Comes Knocking. . .
Clinical medicine insights. Case reportsCase Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure.
Frontiers in immunologyCase Report: FOXP3 Mutation in a Patient Presenting With ALPS.
Frontiers in immunologyLarge deletion in 6q containing the TNFAIP3 gene associated with autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.)We refuse to die - T cells causing havoc.
Biomedical journalPresentation and diagnosis of autoimmune lymphoproliferative syndrome (ALPS).
Expert review of clinical immunologyParatrabecular bone marrow involvement in autoimmune lymphoproliferative syndrome: a potential diagnostic pitfall as a lymphoma mimic.
HistopathologyIncreased double-negative αβ+ T-cells reveal adult-onset autoimmune lymphoproliferative syndrome in a patient with IgG4-related disease.
HaematologicaType I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Clinical immunology (Orlando, Fla.)Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
Frontiers in immunologyScaling the tips of the ALPS.
Biomedical journalAutoimmune lymphoproliferative syndrome with Langerhans cell histiocytosis diagnosis.
Pediatric blood & cancerImmune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.
Biomedical journalVariants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
Clinical immunology (Orlando, Fla.)Etiological causes and prognosis in children with neutropenia.
Northern clinics of IstanbulSirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD.
International journal of immunopathology and pharmacologyThe genetic landscape of the FAS pathway deficiencies.
Biomedical journalGenetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
The Journal of clinical endocrinology and metabolismPancytopenia and acute glomerulonephritis in an adolescent: Answers.
Pediatric nephrology (Berlin, Germany)Generalized Lymphadenopathy with Cytopenias.
The American journal of medicineLymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.
Clinical and experimental immunologyNext Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
Frontiers in immunologyComplete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS).
Clinical immunology (Orlando, Fla.)Role of γ-Secretase Inhibitors for the Treatment of Diverse Disease Conditions through Inhibition of Notch Signaling Pathway.
Current drug targetsClinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyThe challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Rheumatology (Oxford, England)Polyclonal hypergammaglobulinaemia: assessment, clinical interpretation, and management.
The Lancet. HaematologyImmune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.
Immunity, inflammation and diseaseCase Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.
Frontiers in pediatricsSuccessful treatment of acute myeloid leukemia and mast cell proliferation in a patient with autoimmune lymphoproliferative syndrome.
Pediatric blood & cancerUnderlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept-A Case Report.
Journal of pediatric hematology/oncologyRefractory autoimmune cytopenias in pediatric Evans syndrome with underlying systemic immune dysregulation.
European journal of haematologyCase Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia.
Frontiers in immunologyMore than an 'atypical' phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.
British journal of haematologyAutoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia, and Newly Diagnosed Lymphoma.
Turkish journal of haematology : official journal of Turkish Society of HaematologyImmunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).
Critical reviews in clinical laboratory sciencesAnaesthetic management of an emergency caesarean section in a complex immunologically compromised patient with pre-eclampsia and multifactorial thrombocytopaenia.
Anaesthesia reportsA distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.
The Journal of experimental medicine[Lymphoproliferative disorders and inborn errors of immunity].
[Rinsho ketsueki] The Japanese journal of clinical hematologyPersistent Interferon Production by Double Negative T Cells and Collapsing Focal Segmental Glomerulosclerosis.
NephronProtein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case from the National Iranian Registry and Review of the Literature.
Immunological investigationsClinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).
Journal of clinical immunologyIntegration of innate immune signalling by caspase-8 cleavage of N4BP1.
Nature[; CLINICAL CASE OF STAT3 GOF IMMUNE DYSREGULATION DISEASE, ALPS].
Georgian medical newsUnraveling subcutaneous panniculitis-like T-cell lymphoma: An association between subcutaneous panniculitis-like T-cell lymphoma, autoimmune lymphoproliferative syndrome, and familial hemophagocytic lymphohistiocytosis.
Journal of cutaneous pathologyDefective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.
The journal of allergy and clinical immunology. In practiceITK deficiency presenting as autoimmune lymphoproliferative syndrome.
The Journal of allergy and clinical immunologyKey diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis.
BloodSuccessful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture.
Journal of clinical immunologyGermline TET2 loss of function causes childhood immunodeficiency and lymphoma.
BloodBartonella endocarditis mimics the clinical and immunologic findings of autoimmune lymphoproliferative syndrome.
Pediatric blood & cancerGenetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation.
MedicineCaspase-8-Dependent Inflammatory Responses Are Controlled by Its Adaptor, FADD, and Necroptosis.
ImmunityNovel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency.
Journal of clinical immunologyIncreased mTOR activation in idiopathic multicentric Castleman disease.
BloodMyeleterosis in an ALPS5 patient with primary immune dysregulation syndrome.
CNS neuroscience & therapeuticsNeonatal Autoimmune Lymphoproliferative Syndrome: A Case Report and A Brief Review.
Journal of pediatric hematology/oncologyAutoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection.
Journal of clinical immunology30 Years of Experience with Non-Hodgkin Lymphoma in Children and Adolescents: a retrospective cohort study.
Revista da Associacao Medica Brasileira (1992)[Autoimmune lymphoproliferative syndrome. Update and review].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Allergy, asthma & immunology researchFatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?
Case reports in immunologyDevelopment of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation.
Central-European journal of immunologyCauses of double-negative T-cell lymphocytosis in children and adults.
Journal of clinical pathologyDefective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
The Journal of clinical investigation18F-FDG PET Imaging Features of Patients With Autoimmune Lymphoproliferative Syndrome.
Clinical nuclear medicineLymphadenopathy, splenomegaly, intermittent neutropenia, and acute kidney injury: Answers.
Pediatric nephrology (Berlin, Germany)A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Journal of clinical immunologyRAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children.
Pediatric rheumatology online journalAutoimmune Lymphoproliferative Syndrome with Cryptococcus Infection.
Journal of clinical immunologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency.
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.
- Monogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.
- Long-Term Outcomes of Successful Treatment with Ruxolitinib in a Pediatric Patient with Autoimmune Lymphoproliferative Syndrome and a Signal Transducer and Activator of Transcription 3 Gain-of-Function Mutation.
- CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP).
- A curated list of immune system associated genes related to cancer.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3261(Orphanet)
- MONDO:0017979(MONDO)
- GARD:8686(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1151300(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
