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Doença linfoproliferativa ligada ao X
ORPHA:2442CID-10 · D82.3CID-11 · 4A01.22DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
DigestivoInício infânciaHerança XL
Também conhecida comoXLPEBV
Sinônimos clínicos: Síndrome Purtilo · XLP · Doença de Duncan

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).

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

Doença linfoproliferativa ligada ao X (XLP) é um distúrbio do sistema imunológico e das células formadoras de sangue que é encontrado quase que exclusivamente em homens. Mais da metade dos indivíduos com esse distúrbio experimenta uma resposta imunológica exagerada ao vírus Epstein-Barr (EBV). O EBV é um vírus muito comum que eventualmente infecta a maioria dos humanos. Em algumas pessoas ele causa mononucleose infecciosa (conhecida popularmente como “mono”). Normalmente, após a infecção inicial, o EBV permanece em certas células do sistema imunológico (linfócitos) chamadas células B. No entanto, o vírus geralmente está inativo (latente) porque é controlado por outros linfócitos chamados células T que visam especificamente as células B infectadas pelo EBV.

Pessoas com XLP podem responder à infecção por EBV produzindo números anormalmente grandes de células T, células B e outros linfócitos chamados macrófagos. Essa proliferação de células imunológicas frequentemente causa uma reação com risco de vida chamada linfocitose hemofagocítica. A linfocitose hemofagocítica causa febre, destrói as células produtoras de sangue na medula óssea e danifica o fígado. O baço, o coração, os rins e outros órgãos e tecidos também podem ser afetados. Em alguns indivíduos com XLP, a linfocitose hemofagocítica ou sintomas relacionados podem ocorrer sem infecção por EBV.

Cerca de um terço das pessoas com XLP apresentam disgamaglobulinemia, o que significa que têm níveis anormais de alguns tipos de anticorpos. Anticorpos (também conhecidos como imunoglobulinas) são proteínas que se ligam a partículas e germes estranhos específicos, marcando-os para destruição. Indivíduos com disgamaglobulinemia são propensos a infecções recorrentes.

Cânceres das células do sistema imunológico (linfomas) ocorrem em cerca de um terço das pessoas com XLP.

Sem tratamento, a maioria das pessoas com XLP sobrevive apenas até a infância. A morte geralmente resulta da linfocitose hemofagocítica.

XLP pode ser dividida em dois tipos com base em sua causa genética e padrão de sinais e sintomas: XLP1 (também conhecida como XLP clássica) e XLP2. Pessoas com XLP2 não foram conhecidas por desenvolver linfoma, têm maior probabilidade de desenvolver linfocitose hemofagocítica sem infecção por EBV, geralmente apresentam um baço aumentado (esplenomegalia) e podem também ter inflamação do intestino grosso (colite). Alguns pesquisadores acreditam que esses indivíduos deveriam ser considerados como tendo um distúrbio semelhante, mas separado, em vez de um tipo de XLP.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

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).

Pesquisas ativas
32 ensaios
119 total registrados no ClinicalTrials.gov
Publicações científicas
369 artigos
Último publicado: 2025 Nov

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.05
Europe
Início
Adolescent
+ adult, childhood, infancy
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D82.3
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

🩸
Sangue
8 sintomas
🫃
Digestivo
6 sintomas
🛡️
Imunológico
4 sintomas
🧬
Pele e cabelo
2 sintomas
🫘
Rins
1 sintomas
🫁
Pulmão
1 sintomas

+ 30 sintomas em outras categorias

Características mais comuns

—
Hemofagocitose esplênica
—
Insuficiência renal
—
Doença de Crohn
—
Anemia aplástica
—
Aumento da concentração circulante de ferritina
—
Hepatite
53sintomas
Sem dados (53)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 53 características clínicas mais associadas, ordenadas por frequência.

Hemofagocitose esplênicaSplenic hemophagocytosis
Insuficiência renalRenal insufficiency
Doença de CrohnCrohn's disease
Anemia aplásticaAplastic anemia
Aumento da concentração circulante de ferritinaIncreased circulating ferritin concentration

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico369PubMed
Últimos 10 anos100publicações
Pico201713 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2017Ano de pico
Publicações por ano (últimos 10 anos)

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.

SH2D1ASH2 domain-containing protein 1ADisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (1)
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Baço
9.3 TPM
Esôfago - Muscular
3.8 TPM
Pulmão
3.5 TPM
Sangue
3.4 TPM
Intestino delgado
2.1 TPM
OUTRAS DOENÇAS (1)
X-linked lymphoproliferative disease due to SH2D1A deficiency
HGNC:10820UniProt:O60880
XIAPE3 ubiquitin-protein ligase XIAPDisease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (10)
RIPK1-mediated regulated necrosisTNFR1-induced proapoptotic signalingRegulation of TNFR1 signalingRegulation of necroptotic cell deathTNFR1-induced NF-kappa-B signaling pathway
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
18.3 TPM
Fibroblastos
17.6 TPM
Tireoide
16.3 TPM
Pulmão
15.7 TPM
Cervix Ectocervix
15.5 TPM
OUTRAS DOENÇAS (1)
X-linked lymphoproliferative disease due to XIAP deficiency
HGNC:592UniProt:P98170

Variantes genéticas (ClinVar)

921 variantes patogênicas registradas no ClinVar.

🧬 SH2D1A: NM_002351.5(SH2D1A):c.256G>A (p.Ala86Thr) ()
🧬 SH2D1A: NM_002351.5(SH2D1A):c.112C>T (p.Pro38Ser) ()
🧬 SH2D1A: NM_002351.5(SH2D1A):c.109G>A (p.Val37Met) ()
🧬 SH2D1A: NM_002351.5(SH2D1A):c.41A>G (p.Glu14Gly) ()
🧬 SH2D1A: NM_002351.5(SH2D1A):c.187T>C (p.Ser63Pro) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 550 variantes classificadas pelo ClinVar.

275
275
VUS (50.0%)
Benigna (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
SH2D1A: NM_002351.5(SH2D1A):c.256G>A (p.Ala86Thr) [Uncertain significance]
SH2D1A: NM_002351.5(SH2D1A):c.112C>T (p.Pro38Ser) [Uncertain significance]
SH2D1A: NM_002351.5(SH2D1A):c.109G>A (p.Val37Met) [Uncertain significance]
XIAP: NM_001167.4(XIAP):c.298A>G (p.Asn100Asp) [Uncertain significance]
XIAP: NM_001167.4(XIAP):c.239T>C (p.Val80Ala) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 315
2Fase 239
1Fase 121
·Pré-clínico25
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 100 ensaios
Carregando informações de tratamento...

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

Onde estão os ensaios

Com ensaio aberto em 15 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

14 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

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NCT01728402 · Pathogenesis of Hematologic MalignanciesPor convite
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Acquired non-permissive BM microenvironment impairs HSCs proliferation and maintenance and B-cell development post-HSCT.

Blood advances2026 Jan 16

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.

#2

Editorial Expression of Concern: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.

Nature2026 Feb
#3

Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Pediatric dermatology2026

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.

#4

Inborn Errors of Immunity in Apoptosis.

Frontiers in bioscience (Landmark edition)2025 May 20

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.

#5

X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.

Pediatric blood &amp; cancer2025 Feb

Publicações recentes

Ver todas no PubMed

📚 EuropePMC178 artigos no totalmostrando 99

2025

Fulminant liver failure due to Epstein-Barr virus in immunodeficiency disorders.

Canadian liver journal
2026

Acquired non-permissive BM microenvironment impairs HSCs proliferation and maintenance and B-cell development post-HSCT.

Blood advances
2025

X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.

Research square
2025

X-linked lymphoproliferative disease with initial onset of neurological symptoms: a case and literature review.

Frontiers in immunology
2026

Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Pediatric dermatology
2025

X-linked Lymphoproliferative Disease Type 1 Presenting as Lymphoma in a Male Patient With Atypical Common Variable Immunodeficiency Features: A Case of Delayed Diagnosis.

Cureus
2025

X-linked lymphoproliferative disease type 1: a clinical and genetic update.

Frontiers in immunology
2025

Inborn Errors of Immunity in Apoptosis.

Frontiers in bioscience (Landmark edition)
2025

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.

Frontiers in immunology
2025

Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.

Journal of medical case reports
2024

A case of adult-onset X-linked lymphoproliferative disease mimicking pulmonary infection.

BMC infectious diseases
2025

X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.

Pediatric blood &amp; cancer
2024

Lentiviral vectors for precise expression to treat X-linked lymphoproliferative disease.

Molecular therapy. Methods &amp; clinical development
2024

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease.

Frontiers in immunology
2024

Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH.

International journal of hematology
2023

Population 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.

Pharmaceutics
2024

X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India.

International archives of allergy and immunology
2023

XIAP promotes the expansion and limits the contraction of CD8 T cell response through cell extrinsic and intrinsic mechanisms respectively.

PLoS pathogens
2023

Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.

Frontiers in immunology
2023

Microbiome and Its Dysbiosis in Inborn Errors of Immunity.

Pathogens (Basel, Switzerland)
2022

Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.

Cell death &amp; disease
2023

When 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 Diseases
2022

Allosteric inhibition of SHP2 rescues functional T-cell abnormalities in SAP deficiency.

The Journal of allergy and clinical immunology
2022

Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody.

Brain &amp; development
2022

Does shining a spotlight on XIAP deficiency bring the role of allogeneic HCT into better focus?

The Journal of allergy and clinical immunology
2022

Genome Editing With TALEN, CRISPR-Cas9 and CRISPR-Cas12a in Combination With AAV6 Homology Donor Restores T Cell Function for XLP.

Frontiers in genome editing
2022

Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease.

Blood
2022

Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report.

Frontiers in pediatrics
2022

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1.

Frontiers in pediatrics
2022

Patients with XLP type 1 have variable numbers of NKT cells.

British journal of haematology
2022

Simple Evaluation of Clinical Situation and Subtypes of Pediatric Hemophagocytic Lymphohistiocytosis by Cytokine Patterns.

Frontiers in immunology
2021

Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.

Frontiers in immunology
2021

Bispecific Antibody Designed for Targeted NK Cell Activation and Functional Assessment for Biomedical Applications.

ACS applied materials &amp; interfaces
2021

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report.

Frontiers in pediatrics
2021

Evolution of Our Understanding of XIAP Deficiency.

Frontiers in pediatrics
2021

Epstein-Barr virus (EBV) hyperimmune globulin isolated from donors with high gp350 antibody titers protect humanized mice from challenge with EBV.

Virology
2022

Haemophagocytic lymphohistiocytosis and Epstein-Barr virus: a complex relationship with diverse origins, expression and outcomes.

British journal of haematology
2021

Diacylglycerol Kinase alpha in X Linked Lymphoproliferative Disease Type 1.

International journal of molecular sciences
2021

Successful 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 proceedings
2021

Fatal unexpected death due to X-linked lymphoproliferative disease.

Legal medicine (Tokyo, Japan)
2021

SLAM Associated Protein Signaling in T Cells: Tilting the Balance Toward Autoimmunity.

Frontiers in immunology
2021

[Cerebral vasculitis in X-linked lymphoproliferative disease in a Chinese patient].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2021

Two 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/oncology
2020

Preimplantation Genetic Testing for a Chinese Family With X-Linked Lymphoproliferative Syndrome Type 1.

Frontiers in genetics
2020

X-linked Lymphoproliferative Disease (XLP1) Presenting as Non-Epstein Barr Virus (EBV) - Related Hemophagocytic Lymphohistiocytosis (HLH).

Indian pediatrics
2020

[Lymphoproliferative disorders and inborn errors of immunity].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2020

Epstein-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 pediatrics
2021

Successful 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 Society
2020

The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor.

Case reports in immunology
2020

X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases.

Case reports in medicine
2020

[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 zazhi
2020

Potential role of diacylglycerol kinases in immune-mediated diseases.

Clinical science (London, England : 1979)
2020

Detailed Phenotypic and Functional Characterization of a Rare, Antibody-Dependent SLAM-Associated Protein Expression Pattern.

ImmunoHorizons
2020

Pediatric hemophagocytic lymphohistiocytosis.

Blood
2020

The 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 transplantation
2020

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease.

Pediatric blood &amp; cancer
2020

Structure activity relationship studies on Amb639752: toward the identification of a common pharmacophoric structure for DGKα inhibitors.

Journal of enzyme inhibition and medicinal chemistry
2019

Sodium oxybate (Xyrem) treatment in severely sleep-deprived child with Epstein-Barr virus encephalitis with lesion of sleep-wake regulation system: a case report.

Sleep medicine
2019

A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease.

Journal of pediatric hematology/oncology
2019

The Role of Adaptor Proteins in the Biology of Natural Killer T (NKT) Cells.

Frontiers in immunology
2019

Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants.

Frontiers in pediatrics
2019

Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations.

Journal of clinical immunology
2019

Identification of a novel DGKα inhibitor for XLP-1 therapy by virtual screening.

European journal of medicinal chemistry
2019

Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.

Clinical immunology (Orlando, Fla.)
2018

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 Immunology
2019

2B4 dysfunction in XLP1 NK cells: More than inability to control EBV infection.

Clinical immunology (Orlando, Fla.)
2019

2B4 (CD244, SLAMF4) and CS1 (CD319, SLAMF7) in systemic lupus erythematosus and cancer.

Clinical immunology (Orlando, Fla.)
2018

EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab.

Case reports in immunology
2018

Inhibitor of apoptosis proteins are required for effective fusion of autophagosomes with lysosomes.

Cell death &amp; disease
2018

Transfer of gene-corrected T cells corrects humoral and cytotoxic defects in patients with X-linked lymphoproliferative disease.

The Journal of allergy and clinical immunology
2018

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.

Frontiers in immunology
2018

Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.

Gastroenterology
2018

FOXP3 renders activated human regulatory T cells resistant to restimulation-induced cell death by suppressing SAP expression.

Cellular immunology
2018

First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2017

Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis.

Frontiers in immunology
2018

Affinity 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 America
2017

T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.

Journal of immunology (Baltimore, Md. : 1950)
2017

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)
2017

X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.

Journal of pediatric hematology/oncology
2017

[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2017

Inhibitory 2B4 contributes to NK cell education and immunological derangements in XLP1 patients.

European journal of immunology
2017

2B4-SAP signaling is required for the priming of naive CD8+ T cells by antigen-expressing B cells and B lymphoma cells.

Oncoimmunology
2017

Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.

Journal of pediatric hematology/oncology
2017

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.

PloS one
2017

Dissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity.

The Journal of experimental medicine
2017

How 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 Genetics
2016

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.

Human immunology
2016

Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).

American journal of clinical pathology
2016

Stepwise phosphorylation of p65 promotes NF-κB activation and NK cell responses during target cell recognition.

Nature communications
2017

Progressive reduction of circulating B lymphocytes in patients with X-linked lymphoproliferative disease (XLP).

British journal of haematology
2017

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2016

Inhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1.

Science translational medicine
2015

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

BMC gastroenterology
2015

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

Journal of clinical immunology
2015

Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.

Allergologia et immunopathologia
2015

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation.

Pediatric blood &amp; cancer
2015

A 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 immunology
2015

The immunology of Epstein-Barr virus-induced disease.

Annual review of immunology
2015

Maternal 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 reports
Ver todos os 178 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Doença linfoproliferativa ligada ao X e no aconselhamento genético da família.

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É uma doença genética rara em que o sistema imunológico apresenta falhas funcionais graves, especialmente na resposta à infecção provocada pelo vírus Epstein-Barr (EBV). Ela afeta quase exclusivamente pessoas do sexo masculino e compromete a produção adequada de células de defesa e anticorpos.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

8 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. Inborn Errors of Immunity in Apoptosis.
    Frontiers in bioscience (Landmark edition)2025PMID 40464495
  2. ORPHA:2442
    Orphanet
  3. GARD:10915
    GARD (NIH)
  4. 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.

Citar este verbete

Raras. (s.d.). Doença linfoproliferativa ligada ao X. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-linfoproliferativa-ligada-ao-x

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Doença linfoproliferativa ligada ao X

ORPHA:2442 · MONDO:0010627
Prevalência
<1 / 1 000 000
Herança
X-linked recessive
CID-10
D82.3 · Imunodeficiência que se segue à resposta hereditária defeituosa ao vírus de Epstein-Barr (EB)
CID-11
Ensaios
32 ativos
Início
Adolescent, Adult, Childhood, Infancy
Prevalência
0.05 (Europe)
MedGen
UMLS
C0549463
EuropePMC
Wikidata
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara