A doença linfoproliferativa ligada ao X é uma condição hereditária em que o sistema de defesa do corpo (imunológico) não funciona direito. Na maioria dos casos, isso se manifesta como uma resposta insuficiente à infecção pelo vírus Epstein-Barr (EBV).
Introdução
O que você precisa saber de cara
A doença linfoproliferativa ligada ao X é uma condição hereditária em que o sistema de defesa do corpo (imunológico) não funciona direito. Na maioria dos casos, isso se manifesta como uma resposta insuficiente à infecção pelo vírus Epstein-Barr (EBV).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 30 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 53 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: X-linked recessive.
Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458
Cytoplasm
Lymphoproliferative syndrome, X-linked, 1
A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.
Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis (PubMed:11257230, PubMed:11257231, PubMed:11447297, PubMed:12121969, PubMed:12620238, PubMed:17560374, PubMed:17967870, PubMed:19473982, PubMed:20154138, PubMed:22103349, PubMed:9230442). Acts as a direct caspase inhibitor (PubMed:11257230, PubMed:11257231, PubM
CytoplasmNucleus
Lymphoproliferative syndrome, X-linked, 2
A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.
Variantes genéticas (ClinVar)
921 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 550 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
14 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 — Doença linfoproliferativa ligada ao X
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
14 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Acquired non-permissive BM microenvironment impairs HSCs proliferation and maintenance and B-cell development post-HSCT.
Defects in B-cell reconstitution upon hematopoietic stem-cell (HSC) transplantation (HSCT) are a common observation, yet the mechanism remains unexplained. The bone marrow (BM) stroma, including mesenchymal stromal cells (MSCs), guides HSC maintenance and B-lymphopoiesis by secreting crucial cytokines. We report acquired, permanent, selective and complete B-cell deficiency in the context of full donor-chimerism in a patient with X-linked lymphoproliferative disease and aimed to identify the contribution of the BM-microenvironment in disrupted B-cell reconstitution post-HSCT. We studied longitudinal BM samples from the patient and his identical twin, both of whom underwent HSCT with the same donor with opposite outcomes in B-cell reconstitution. In the index patient BM, we observed progressive loss of proliferation of HSCs and a selective block at the pre-BI cell stage. In vitro modeling studies showed limited survival of patient-HSCs and a relative accumulation of pre-B cells. Patient-derived MSCs failed to support survival and proliferation of HSCs and B-cell development of healthy-HSCs which was correlated with reduced CXCL12 levels. Using bulk RNA-sequencing of MSCs and in vitro functional studies, we showed global changes in the patients' MSCs and a progressive loss of CXCL12 expression. Indeed, survival of patients HSCs improved supplementing in vitro development culture with CXCL12, suggesting a contribution of defective CXCL12 signaling to the phenotype. In summary, our data show that an acquired defect in the BM-stromal microenvironment and exhaustion of HSCs and committed progenitors may cause a permanent non-permissive state for normal B-cell development.
Editorial Expression of Concern: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).
A 14-year-old boy was initially diagnosed with erosive oral lichen planus based on clinical and histopathological findings. However, the atypical clinical course and resistance to immunosuppressive therapy raised suspicion for an autoinflammatory disorder or inborn error of immunity. Genetic testing revealed a pathogenic SH2D1A mutation, confirming X-linked lymphoproliferative disease type 1 (XLP-1) in the absence of Epstein-Barr virus exposure. This case highlights oral mucosal lesions as a potential early, EBV-independent manifestation of XLP-1 and emphasizes the importance of considering monogenic immune disorders in persistent, treatment-refractory mucosal disease.
Inborn Errors of Immunity in Apoptosis.
Inborn errors of immunity (IEIs) are a group of more than 485 disorders that impair immune development and function with variable reported incidence, severity, and clinical phenotypes. A subset of IEIs blend increased susceptibility to infection, autoimmunity, and malignancy and are known collectively as primary immune regulatory disorders (PIRDs). Programmed cell death, or apoptosis, is crucial for maintaining the balance of lymphocytes. Genetic-level identification of several human inherited diseases with impaired apoptosis has been achieved, such as autoimmune lymphoproliferative syndrome (ALPS), caspase-8 deficiency state (CEDS), X-linked lymphoproliferative syndrome (XLP), and Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway disorders. The consequences of this disease are manifested by abnormal lymphocyte accumulation, resulting in clinical features such as lymphadenopathy, hepatomegaly, splenomegaly, and an increased risk of lymphoma. Additionally, these disorders are often associated with autoimmune disease, particularly involving blood cells. Understanding the molecular pathogenesis of these conditions has provided critical insights into the signaling pathways that regulate apoptosis and lymphocyte activation, shedding light on mechanisms of immune dysregulation. This review focuses on the intersection between apoptosis, autoimmunity, and lymphoproliferation, discussing how dysregulation contributes to the development of these immune disorders. These conditions are characterized by excessive lymphocyte accumulation, autoimmunity, and/or immunodeficiency. Understanding their molecular pathogenesis has offered new insights into the signaling mechanisms that regulate apoptosis and lymphocyte activation.
X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.
Publicações recentes
Fulminant liver failure due to Epstein-Barr virus in immunodeficiency disorders.
Acquired non-permissive BM microenvironment impairs HSCs proliferation and maintenance and B-cell development post-HSCT.
X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.
X-linked lymphoproliferative disease with initial onset of neurological symptoms: a case and literature review.
📚 EuropePMC178 artigos no totalmostrando 99
Fulminant liver failure due to Epstein-Barr virus in immunodeficiency disorders.
Canadian liver journalAcquired non-permissive BM microenvironment impairs HSCs proliferation and maintenance and B-cell development post-HSCT.
Blood advancesX-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.
Research squareX-linked lymphoproliferative disease with initial onset of neurological symptoms: a case and literature review.
Frontiers in immunologySevere Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).
Pediatric dermatologyX-linked Lymphoproliferative Disease Type 1 Presenting as Lymphoma in a Male Patient With Atypical Common Variable Immunodeficiency Features: A Case of Delayed Diagnosis.
CureusX-linked lymphoproliferative disease type 1: a clinical and genetic update.
Frontiers in immunologyInborn Errors of Immunity in Apoptosis.
Frontiers in bioscience (Landmark edition)Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.
Frontiers in immunologyGenetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.
Journal of medical case reportsA case of adult-onset X-linked lymphoproliferative disease mimicking pulmonary infection.
BMC infectious diseasesX-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.
Pediatric blood & cancerLentiviral vectors for precise expression to treat X-linked lymphoproliferative disease.
Molecular therapy. Methods & clinical developmentCase report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease.
Frontiers in immunologyHighly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH.
International journal of hematologyPopulation Pharmacokinetic Modeling for Twice-Daily Intravenous Busulfan in a Large Cohort of Pediatric Patients Undergoing Hematopoietic Stem Cell Transplantation-A 10-Year Single-Center Experience.
PharmaceuticsX-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India.
International archives of allergy and immunologyXIAP promotes the expansion and limits the contraction of CD8 T cell response through cell extrinsic and intrinsic mechanisms respectively.
PLoS pathogensWiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.
Frontiers in immunologyMicrobiome and Its Dysbiosis in Inborn Errors of Immunity.
Pathogens (Basel, Switzerland)Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.
Cell death & diseaseWhen to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesAllosteric inhibition of SHP2 rescues functional T-cell abnormalities in SAP deficiency.
The Journal of allergy and clinical immunologyFatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody.
Brain & developmentDoes shining a spotlight on XIAP deficiency bring the role of allogeneic HCT into better focus?
The Journal of allergy and clinical immunologyGenome Editing With TALEN, CRISPR-Cas9 and CRISPR-Cas12a in Combination With AAV6 Homology Donor Restores T Cell Function for XLP.
Frontiers in genome editingEpstein-Barr virus-associated hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease.
BloodFatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report.
Frontiers in pediatricsCase Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1.
Frontiers in pediatricsPatients with XLP type 1 have variable numbers of NKT cells.
British journal of haematologySimple Evaluation of Clinical Situation and Subtypes of Pediatric Hemophagocytic Lymphohistiocytosis by Cytokine Patterns.
Frontiers in immunologyCase Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.
Frontiers in immunologyBispecific Antibody Designed for Targeted NK Cell Activation and Functional Assessment for Biomedical Applications.
ACS applied materials & interfacesX-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report.
Frontiers in pediatricsEvolution of Our Understanding of XIAP Deficiency.
Frontiers in pediatricsEpstein-Barr virus (EBV) hyperimmune globulin isolated from donors with high gp350 antibody titers protect humanized mice from challenge with EBV.
VirologyHaemophagocytic lymphohistiocytosis and Epstein-Barr virus: a complex relationship with diverse origins, expression and outcomes.
British journal of haematologyDiacylglycerol Kinase alpha in X Linked Lymphoproliferative Disease Type 1.
International journal of molecular sciencesSuccessful Salvage Haploidentical Bone Marrow Transplantation in a Child With Hemophagocytic Lymphohistiocytosis, When the Previously Matched Unrelated Donor Tested Positive for SARS-CoV-2 on the Day of Stem Cells Collection.
Transplantation proceedingsFatal unexpected death due to X-linked lymphoproliferative disease.
Legal medicine (Tokyo, Japan)SLAM Associated Protein Signaling in T Cells: Tilting the Balance Toward Autoimmunity.
Frontiers in immunology[Cerebral vasculitis in X-linked lymphoproliferative disease in a Chinese patient].
Zhonghua er ke za zhi = Chinese journal of pediatricsTwo Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature.
Journal of pediatric hematology/oncologyPreimplantation Genetic Testing for a Chinese Family With X-Linked Lymphoproliferative Syndrome Type 1.
Frontiers in geneticsX-linked Lymphoproliferative Disease (XLP1) Presenting as Non-Epstein Barr Virus (EBV) - Related Hemophagocytic Lymphohistiocytosis (HLH).
Indian pediatrics[Lymphoproliferative disorders and inborn errors of immunity].
[Rinsho ketsueki] The Japanese journal of clinical hematologyEpstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report.
BMC pediatricsSuccessful Auxiliary Liver Transplant Followed by Hematopoietic Stem Cell Transplantation in X-Linked Lymphoproliferative Disease Type 1.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyThe Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor.
Case reports in immunologyX-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases.
Case reports in medicine[Clinical study of haploidentical hematopoietic stem cell transplantation on 15 cases of adult-onset primary hemophagocytic lymphohistiocytosis].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiPotential role of diacylglycerol kinases in immune-mediated diseases.
Clinical science (London, England : 1979)Detailed Phenotypic and Functional Characterization of a Rare, Antibody-Dependent SLAM-Associated Protein Expression Pattern.
ImmunoHorizonsPediatric hemophagocytic lymphohistiocytosis.
BloodThe role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family survey study.
Pediatric transplantationDiagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease.
Pediatric blood & cancerStructure activity relationship studies on Amb639752: toward the identification of a common pharmacophoric structure for DGKα inhibitors.
Journal of enzyme inhibition and medicinal chemistrySodium oxybate (Xyrem) treatment in severely sleep-deprived child with Epstein-Barr virus encephalitis with lesion of sleep-wake regulation system: a case report.
Sleep medicineA Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease.
Journal of pediatric hematology/oncologyThe Role of Adaptor Proteins in the Biology of Natural Killer T (NKT) Cells.
Frontiers in immunologySystemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants.
Frontiers in pediatricsDifferent Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations.
Journal of clinical immunologyIdentification of a novel DGKα inhibitor for XLP-1 therapy by virtual screening.
European journal of medicinal chemistryManagement of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.
Clinical immunology (Orlando, Fla.)Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology2B4 dysfunction in XLP1 NK cells: More than inability to control EBV infection.
Clinical immunology (Orlando, Fla.)2B4 (CD244, SLAMF4) and CS1 (CD319, SLAMF7) in systemic lupus erythematosus and cancer.
Clinical immunology (Orlando, Fla.)EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab.
Case reports in immunologyInhibitor of apoptosis proteins are required for effective fusion of autophagosomes with lysosomes.
Cell death & diseaseTransfer of gene-corrected T cells corrects humoral and cytotoxic defects in patients with X-linked lymphoproliferative disease.
The Journal of allergy and clinical immunologyX-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.
Frontiers in immunologyAnalysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.
GastroenterologyFOXP3 renders activated human regulatory T cells resistant to restimulation-induced cell death by suppressing SAP expression.
Cellular immunologyFirst Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey.
Turkish journal of haematology : official journal of Turkish Society of HaematologyEpstein-Barr Virus and Hemophagocytic Lymphohistiocytosis.
Frontiers in immunologyAffinity purification mass spectrometry analysis of PD-1 uncovers SAP as a new checkpoint inhibitor.
Proceedings of the National Academy of Sciences of the United States of AmericaT Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
Journal of immunology (Baltimore, Md. : 1950)Pillars Article: The X-Linked Lymphoproliferative Disease Gene Product SAP Regulates Signals Induced through the Co-Receptor SLAM. Nature. 1998. 395: 462-469.
Journal of immunology (Baltimore, Md. : 1950)X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.
Journal of pediatric hematology/oncology[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].
Zhonghua er ke za zhi = Chinese journal of pediatricsInhibitory 2B4 contributes to NK cell education and immunological derangements in XLP1 patients.
European journal of immunology2B4-SAP signaling is required for the priming of naive CD8+ T cells by antigen-expressing B cells and B lymphoma cells.
OncoimmunologyNovel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
Journal of pediatric hematology/oncologyTargeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.
PloS oneDissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity.
The Journal of experimental medicineHow genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.
Genetics in medicine : official journal of the American College of Medical GeneticsVariable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.
Human immunologyTwo Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).
American journal of clinical pathologyStepwise phosphorylation of p65 promotes NF-κB activation and NK cell responses during target cell recognition.
Nature communicationsProgressive reduction of circulating B lymphocytes in patients with X-linked lymphoproliferative disease (XLP).
British journal of haematologyHematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationInhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1.
Science translational medicineA de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
BMC gastroenterologyCerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.
Journal of clinical immunologyStudy of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.
Allergologia et immunopathologiaHemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation.
Pediatric blood & cancerA female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.
Journal of clinical immunologyThe immunology of Epstein-Barr virus-induced disease.
Annual review of immunologyMaternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.
Molecular medicine reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença linfoproliferativa ligada ao X.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença linfoproliferativa ligada ao X
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Acquired non-permissive BM microenvironment impairs HSCs proliferation and maintenance and B-cell development post-HSCT.
- Editorial Expression of Concern: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
- Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).
- Inborn Errors of Immunity in Apoptosis.
- X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.
- Fulminant liver failure due to Epstein-Barr virus in immunodeficiency disorders.
- X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.
- X-linked lymphoproliferative disease with initial onset of neurological symptoms: a case and literature review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2442(Orphanet)
- MONDO:0010627(MONDO)
- GARD:10915(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3281380(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
