Raras
Buscar doenças, sintomas, genes...
Trombocitopenia autoimune
ORPHA:71203PCDT · SUSDOENÇA RARA

Uma doença autoimune que leva à diminuição das plaquetas no sangue.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma doença autoimune que leva à diminuição das plaquetas no sangue.

Pesquisas ativas
9 ensaios
516 total registrados no ClinicalTrials.gov
Publicações científicas
791 artigos
Último publicado: 2026 Apr 6
Medicamentos
11 registrados
ROMIPLOSTIM, DEXAMETHASONE SODIUM PHOSPHATE, DEXAMETHASONE

Tem tratamento?

11 medicamentos registrados
Ver detalhes, fases e interações →
ROMIPLOSTIMDEXAMETHASONE SODIUM PHOSPHATEDEXAMETHASONEELTROMBOPAG OLAMINECORTISONE ACETATEFOSTAMATINIB DISODIUMPREDNISONEDECITABINERITUXIMABPREDNISOLONE
🏥
SUS: Cobertura mínimaScore: 30%
PCDT disponível
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O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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
10 sintomas
📏
Crescimento
3 sintomas
🫘
Rins
2 sintomas
💪
Músculos
1 sintomas
🫁
Pulmão
1 sintomas
🧠
Neurológico
1 sintomas

+ 12 sintomas em outras categorias

Características mais comuns

Sangramento anormal
Anticorpo plaquetário positivo
Trombocitopenia
Icterícia
Epistaxe
Petéquias
32sintomas
Sem dados (32)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

Sangramento anormalAbnormal bleeding
Anticorpo plaquetário positivoPlatelet antibody positive
TrombocitopeniaThrombocytopenia
IcteríciaJaundice
EpistaxeEpistaxis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico791PubMed
Últimos 10 anos159publicações
Pico202119 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 2021Ano 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

1 gene identificado com associação a esta condição.

FCGR2CLow affinity immunoglobulin gamma Fc region receptor II-cCandidate gene tested inDesconhecido
FUNÇÃO

Receptor for the Fc region of complexed immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells

LOCALIZAÇÃO

CytoplasmCell membrane

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
17.1 TPM
Tecido adiposo
14.4 TPM
Pulmão
13.5 TPM
Adipose Visceral Omentum
11.4 TPM
Baço
10.5 TPM
OUTRAS DOENÇAS (1)
autoimmune thrombocytopenic purpura
HGNC:15626UniProt:P31995

Medicamentos e terapias

ROMIPLOSTIMPhase 4

Mecanismo: Thrombopoietin receptor agonist

DEXAMETHASONE SODIUM PHOSPHATEPhase 4

Mecanismo: Glucocorticoid receptor agonist

DEXAMETHASONEPhase 4

Mecanismo: Glucocorticoid receptor agonist

ELTROMBOPAG OLAMINEPhase 4

Mecanismo: Thrombopoietin receptor agonist

CORTISONE ACETATEPhase 4

Mecanismo: Glucocorticoid receptor agonist

FOSTAMATINIB DISODIUMPhase 4

Mecanismo: Tyrosine-protein kinase SYK inhibitor

PREDNISONEPhase 4

Mecanismo: Glucocorticoid receptor agonist

DECITABINEPhase 3

Mecanismo: DNA (cytosine-5)-methyltransferase 3A inhibitor

RITUXIMABPhase 3

Mecanismo: B-lymphocyte antigen CD20 binding agent

PREDNISOLONEPhase 3

Mecanismo: Glucocorticoid receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

12 variantes patogênicas registradas no ClinVar.

🧬 FCGR2C: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 FCGR2C: NR_047648.1(FCGR2C):n.490+46G>T ()
🧬 FCGR2C: GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 ()
🧬 FCGR2C: GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) ()
🧬 FCGR2C: NC_000001.10:g.(?_130980840)_(248900000_?)dup ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2 variantes classificadas pelo ClinVar.

2
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
SOCS1: NM_003745.2(SOCS1):c.476_480dup (p.Met161fs) [Pathogenic]
LOC130058479: NM_003745.2(SOCS1):c.24del (p.Ala9fs) [Pathogenic]

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.
Aprovado7
3Fase 37
2Fase 27
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 14 ensaios
✓ Aprovados — podem ser usados hoje
ROMIPLOSTIMDEXAMETHASONE SODIUM PHOSPHATEDEXAMETHASONEELTROMBOPAG OLAMINECORTISONE ACETATEFOSTAMATINIB DISODIUMPREDNISONE
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Trombocitopenia autoimune

🗺️

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

🟢 Recrutando agora

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

Outros ensaios clínicos

516 ensaios clínicos encontrados, 9 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
161 papers (10 anos)
#1

STAT3R152W Mutation Model Reveals Temporal Changes in Hematopoietic Populations.

International journal of molecular sciences2026 Feb 05

Inconsistent presentation of STAT3 variants in clinical settings makes them challenging to use in diagnostics and the prevention of unfavorable outcomes. Patients harboring the STAT3R152W variant display a range of autoimmune disorders, including type 1 diabetes, hemolytic anemia, and thrombocytopenia. Because of a complex interplay of genetic and environmental cofactors, it is difficult to discern the direct role STAT3 plays in the development of those conditions. Here, we report a mouse model of the STAT3R152W variant and describe its hematopoietic populations throughout adulthood. We observed profound changes in both innate and adaptive immunity, including increased splenic Th17 component consistent with a gain-of-function mutation, as described in the literature. At the same time, the mice did not develop obvious symptoms of autoimmunity. R152W mutants show lowered hemoglobin and hematocrit, indicating susceptibility to anemia, but also an increased number of thrombocytes, contradictory to reports of autoimmune thrombocytopenia. We showcase how those changes develop and wane in time, and the differences between male and female animals. Our findings paint the STAT3R152W variant as a cause of severe immune dysregulation, but only as a cofactor in the development of autoimmunity.

#2

TNFAIP3 Gene Polymorphisms and the Risk of Thrombocytopenia: A Cross-Sectional Study in Iranian Population.

Health science reports2026 Jan

Thrombocytopenia, particularly immune thrombocytopenic purpura, is a prevalent hematological disorder characterized by low platelet counts, leading to increased bleeding risks. Genetic factors, including single nucleotide polymorphisms, are implicated in its pathogenesis. The TNFAIP3 gene, which encodes a negative regulator of inflammation, has been associated with various autoimmune diseases. This study investigates the association between TNFAIP3 polymorphisms (rs10499194 and rs2230926) and thrombocytopenia in an Iranian population. This cross-sectional study enrolled a total of 156 participants, including 40 patients diagnosed with non-immune thrombocytopenia, 38 patients with autoimmune thrombocytopenia, and 78 healthy controls. Genotyping of the TNFAIP3 rs10499194 and rs2230926 polymorphisms was done by employing the Tetra-primer Amplification Refractory Mutation System PCR technique. Genotype and allele frequencies were compared between groups. The frequencies of the CC, CT, and TT genotypes of the rs10499194 polymorphism in immune thrombocytopenia, non-immune thrombocytopenia, and healthy individuals were 63.2% (n = 24), 21.1% (n = 8), 15.8% (n = 6) for immune thrombocytopenia; 52.5% (n = 21), 27.5% (n = 11), and 20% (n = 8) for non-immune thrombocytopenia; and 76.9% (n = 60), 10.3% (n = 8), and 12.8% (n = 10) for healthy individuals, respectively. The CT and TT genotypes were significantly associated with an increased risk of thrombocytopenia (OR = 2.5, p = 0.02 for CT; OR = 1.8, p = 0.04 for TT). For rs2230926, all participants exhibited the TT genotype, with no variation observed. The lack of variation in rs2230926 is consistent with population databases, indicating low minor allele frequency in this region. The rs10499194 polymorphism is significantly associated with thrombocytopenia, particularly in non-immune cases, suggesting a potential genetic predisposition. The absence of variation in rs2230926 may reflect population-specific genetic homogeneity. Further studies with larger sample sizes are needed to confirm these findings and explore clinical implications.

#3

Investigating the link between Helicobacter pylori infection and idiopathic thrombocytopenic purpura a case-control study.

Annals of medicine and surgery (2012)2026 Feb

Immune thrombocytopenic purpura (ITP) is an autoimmune disorder marked by isolated thrombocytopenia. Recent studies suggest a link between Helicobacter pylori (H. pylori) infection and ITP, possibly through molecular mimicry and immune-mediated mechanisms. This study aimed to investigate the association between H. pylori infection and ITP in a Pakistani population where both conditions are prevalent. A case-control study was conducted from May 2022 to June 2024 at a tertiary care hospital in Pakistan. A total of 141 participants were enrolled, including 46 patients with primary ITP and 95 age- and sex-matched controls without thrombocytopenia. All subjects were tested for H. pylori using stool antigen tests, urea breath tests, and confirmatory biopsies where applicable. Logistic regression was used to assess the association while adjusting for potential confounders. H. pylori infection was present in 39.1% of ITP patients compared to 17.9% of controls (P = 0.0026). The crude odds ratio (OR) was 2.96 (95% CI: 1.36-6.46), and the adjusted OR was 3.18 (95% CI: 1.42-7.13, P = 0.005) after controlling for age, gender, smoking, and socioeconomic status. Other variables were not significantly associated with ITP. A significant association between H. pylori infection and ITP was observed, supporting the need for routine screening in ITP patients, especially in endemic areas. Further studies should evaluate the platelet response after H. pylori eradication and assess the role of bacterial strain variability.

#4

[Fasciitis-like primary breast pyoderma gangrenosum: A rare case report].

Annales de chirurgie plastique et esthetique2026 Feb 06

Pyoderma gangrenosum (PG) is a rare condition caused by dermal inflammation with neutrophilic infiltration, often associated with an underlying systemic disease. The breast is an uncommon site for this condition. It is an exclusion diagnosis, challenging to establish, which may initially lead to an alternative one and the initiation of inappropriate treatment. A 41-year-old woman with a medical history of morbid obesity, breast reduction 14 years ago, common variable immunodeficiency (CVID), and autoimmune thrombocytopenia presented with a spontaneous inflammatory ulcer of the left breast. The clinical course rapidly deteriorated, progressing to septic shock despite antibiotics. This presentation led to the consideration of necrotizing soft tissue infection (NSTI) as the primary diagnosis. The patient underwent multiple surgical debridements combined with broad- spectrum antibiotic therapy, which resulted in only a slow improvement in her condition. Histopathological examination of the surgical specimens revealed a cutaneous ulcer with dermal inflammation predominantly composed of neutrophils. Her condition eventually stabilized, allowing for reconstruction of the left breast with a split-thickness skin graft. In the immediate postoperative period, the patient developed a fever of unknown origin and inflammatory lesions with a violaceous border at the graft donor site. PG was suspected. One month later, the patient presented with a spontaneously occurring violaceous inflammatory lesion on the controlateral breast. This case of spontaneous PG, is a condition only very rarely described in the literature. A combination of concordant findings support this diagnosis. PG is a rare condition with a challenging diagnosis, as it is one of exclusion. The breast is an uncommon site of involvement, typically described in postoperative cases and very rarely presenting spontaneously. When a patient presents with breast dermo-hypodermitis that shows limited improvement despite appropriate treatment, PG should be considered as a differential diagnosis.

#5

Pulmonary Embolism and Myocardial Infarction With Non-obstructive Coronary Arteries in Immune Thrombocytopenia: Unmasking Underlying Antiphospholipid Syndrome.

Cureus2026 Jan

This case report presents the clinical scenario of a 35-year-old male patient who experienced chest pain due to a combination of pulmonary embolism (PE) and myocardial infarction with non-obstructive coronary arteries (MINOCA), concurrently while undergoing treatment with avatrombopag for immune thrombocytopenia (ITP). His investigations included a CT pulmonary angiogram that confirmed a PE, a coronary angiography which was normal, a cardiac MRI which showed evidence of subendocardial infarct, and a CT coronary angiogram, which was normal. His unique presentation with these findings prompted further investigations, which revealed an undiagnosed antiphospholipid syndrome (APS) alongside a patent foramen ovale (PFO). Hence, the paradoxical thrombotic incidents were precipitated by this unique diagnosis. After establishing the diagnosis, our patient was commenced on warfarin, and his treatment protocol for ITP was changed to a different drug. He remains under haematology follow-up.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC371 artigos no totalmostrando 157

2026

STAT3R152W Mutation Model Reveals Temporal Changes in Hematopoietic Populations.

International journal of molecular sciences
2026

Investigating the link between Helicobacter pylori infection and idiopathic thrombocytopenic purpura a case-control study.

Annals of medicine and surgery (2012)
2026

[Fasciitis-like primary breast pyoderma gangrenosum: A rare case report].

Annales de chirurgie plastique et esthetique
2026

Pulmonary Embolism and Myocardial Infarction With Non-obstructive Coronary Arteries in Immune Thrombocytopenia: Unmasking Underlying Antiphospholipid Syndrome.

Cureus
2026

TNFAIP3 Gene Polymorphisms and the Risk of Thrombocytopenia: A Cross-Sectional Study in Iranian Population.

Health science reports
2025

Do CVID patients on SCIG have more autoimmune (thrombo)cytopenic events than CVID patients on IVIG?

Frontiers in immunology
2025

Autoimmune Thrombocytopenia Treated by Low-Dose Splenic Irradiation Followed by Splenectomy in a Patient With Systemic Lupus Erythematosus.

Clinical case reports
2025

Interferon-stimulated Viperin impairs Treg function in autoimmune thrombocytopenia.

Cell communication and signaling : CCS
2025

Dysregulation of apolipoprotein o reprograms CCR7+CD4+T cell fate in primary autoimmune thrombocytopenia.

iScience
2025

Recommendations of the AGG (Obstetrics and Prenatal Medicine Working Group, Section Maternal Diseases) on Maternal Thrombocytopenia in Pregnancy.

Geburtshilfe und Frauenheilkunde
2026

[Parvovirus B19 in Adolescents and Adults: A Case Series of Clinical Mimicry].

Acta medica portuguesa
2025

Severe Immune Thrombocytopenia Following Endovascular Aneurysm Repair: A Rare Case of Helicobacter pylori Infection and Probable Systemic Lupus Erythematosus.

Cureus
2025

Efficacy and safety of dostarlimab in elderly patients with multiple comorbidities and allergic diathesis: case report.

AME case reports
2025

Systemic Lupus Erythematosus with Refractory Immune Thrombocytopenia Progressing to Catastrophic Anti-Phospholipid Syndrome During Thrombopoietin Receptor Agonist Therapy: A Case Report.

Journal of clinical medicine
2025

The paradox of autoimmune thrombocytopenia in common variable immunodeficiency.

British journal of haematology
2025

Refractory thrombocytopenia as an initial presentation of childhood systemic lupus erythematosus and its response to rituximab.

BMJ case reports
2025

Concurrent invasive disseminated Nocardia farcinica and Candida infections in a patient undergoing long-term glucocorticoid therapy for autoimmune thrombocytopenia: a case report.

BMC infectious diseases
2025

Acute Intracerebral Hemorrhage Associated with Extensive Venous Thrombosis Due to Spontaneous Heparin-Induced Thrombocytopenia After Total Knee Replacement: A Case Report.

Hematology reports
2025

Nocardiosis in systemic lupus erythematosus patients treated with rituximab: Report of two cases and systematic review of literature.

Lupus
2025

Autoimmune Thrombocytopenia in Pregnancy: Insights from an Uncommon Case Presentation and Mini-Review.

Journal of clinical medicine
2024

Immune Reconstitution Inflammatory Syndrome-Induced Thrombocytopenia in a Patient With HIV and Coccidioidomycosis.

Cureus
2024

Association of HPA Antigens with Immune Thrombocytopenia: A Case-Control Study by PCR-SSP Method.

International journal of hematology-oncology and stem cell research
2025

Clonal hematopoiesis in patients with autoimmune thrombocytopenia: an international multicenter study.

Blood advances
2024

Factors predictive of severe thrombocytopenia and its impact on poor outcomes in Latin American patients with systemic lupus erythematosus: Data from a multiethnic Latin American cohort.

Seminars in arthritis and rheumatism
2024

Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant.

Journal of clinical immunology
2025

Epidural blood patching in an anticoagulated patient with intracranial hypotension.

Practical neurology
2024

Catastrophic Antiphospholipid Syndrome: A Life-Threatening Condition.

Cureus
2024

Whole Exome Sequencing in Vaccine-Induced Thrombotic Thrombocytopenia (VITT).

BioMed research international
2024

Complications of Brentuximab Therapy in Patients with Hodgkin's Lymphoma and Concurrent Autoimmune Pathology-A Case Series.

Hematology reports
2024

Successful kidney transplantation from a live donor with immune thrombocytopenia: a case report.

Clinical transplantation and research
2023

The Interplay between Helicobacter pylori and Gut Microbiota in Non-Gastrointestinal Disorders: A Special Focus on Atherosclerosis.

International journal of molecular sciences
2023

Autoimmune Heparin-Induced Thrombocytopenia.

Journal of clinical medicine
2023

Mycophenolate mofetil for autoimmune cytopenias in children: high rates of response in inborn errors of immunity.

Frontiers in pediatrics
2023

Autoimmune Heparin-Induced Thrombocytopenia: A Diagnostic and Management Challenge After Transcatheter Aortic Valve Replacement.

Cureus
2023

Punctate inner choroidopathy in common variable immunodeficiency associated with a pathogenic variant in the tumour necrosis factor receptor superfamily 13b (TNFRSF13B) gene - Case report and review of the literature.

Clinical immunology (Orlando, Fla.)
2023

Acalabrutinib and steroid for autoimmune thrombocytopenia due to relapsed chronic lymphocytic leukemia with severe bone marrow infiltration.

Journal of clinical and experimental hematopathology : JCEH
2023

Massive Right Chylothorax Secondary to a Severe Systemic Lupus Erythematosus Flare With Secondary Evans Syndrome: A Case Report and Literature Review.

Clinical medicine insights. Case reports
2023

Real-life use of mTOR inhibitor-based therapy in adults with autoimmune cytopenia highlights strong efficacy in relapsing/refractory multi-lineage autoimmune cytopenia.

Annals of hematology
2023

[Wiskott-Aldrich syndrome with platelets of normal size and c.295C>T mutation of the WAS gene. Case report].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2023

Evans Syndrome as a Possible Complication of Brentuximab Vedotin Therapy for Peripheral T Cell Lymphoma.

Hematology reports
2023

Associations between bullous pemphigoid and hematological diseases: Literature review on mechanistic connections and possible treatments.

Frontiers in immunology
2023

COVID-19: A trigger of autoimmune diseases.

Cell biology international
2023

Daratumumab as a novel treatment option in refractory ITP.

Blood cells, molecules & diseases
2022

A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect.

Noro psikiyatri arsivi
2022

Paraneoplastic syndromes: A focus on pathophysiology and supportive care.

American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists
2022

Immune-Mediated Neonatal Thrombocytopenia.

NeoReviews
2023

Pediatric Evans Syndrome: A 20-year experience from a tertiary center in Brazil.

Hematology, transfusion and cell therapy
2022

[Non-malignant, non-infectious lymphoproliferation: challenges in the diagnosis and treatment of autoimmune lymphoproliferative syndrome].

Orvosi hetilap
2021

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Frontiers in immunology
2021

Autoimmune Thrombocytopenia in SLE and COVID-19.

European journal of case reports in internal medicine
2021

Severe neonatal autoimmune thrombocytopenia secondary to maternal Evans syndrome.

BMJ case reports
2021

Regional Hypertonic Citrate Anticoagulation in Membrane Therapeutic Plasma Exchange: A Case Series.

Canadian journal of kidney health and disease
2021

First Report of Severe Autoimmune Hemolytic Anemia During Eltrombopag Therapy in Waldenström Macroglobulinemia-Associated Thrombocytopenia.

OncoTargets and therapy
2022

Characterization of molecular genetics and clinicopathology in thymic MALT lymphoma.

Annals of hematology
2022

The presence of idiopathic thrombocytopenic purpura and incidence of acute non-ST elevation myocardial infarction.

Annals of hematology
2021

IL-23/Th17 pathway and IL-17A gene polymorphism in Egyptian children with immune thrombocbytopenic purpura.

Italian journal of pediatrics
2021

Kinetics of platelet adhesion to a fibrinogen-coated surface in whole blood under flow conditions.

Journal of clinical laboratory analysis
2021

Roxithromycin-Associated Acute Thrombocytopenia.

The American journal of case reports
2021

COVID-19 Vaccine and Death: Causality Algorithm According to the WHO Eligibility Diagnosis.

Diagnostics (Basel, Switzerland)
2021

Coronavirus Disease 2019 and Cold Agglutinin Syndrome: An Interesting Case.

European journal of case reports in internal medicine
2021

Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.

Frontiers in immunology
2021

Eltrombopag Effectiveness and Tolerability in Chronic Immune Thrombocytopenia: A Meta-Analysis.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2021

Thrombocytopenia: Effect in Ischemic and Hemorrhagic Stroke.

Dimensions of critical care nursing : DCCN
2021

Surgical stabilization of severe flail chest with Judet and Sanchez-Lloret plates. A case report.

International journal of surgery case reports
2021

Characterization of glycoprotein IIb/IIIa-specific alloantibodies induced by cross-strain platelet immunization in mice.

Transfusion
2021

Treatment of severe thrombocytopenia associated with systemic lupus erythematosus in pregnancy with eltrombopag: A case report and literature review.

Journal of clinical pharmacy and therapeutics
2020

A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact.

Hematology. American Society of Hematology. Education Program
2020

Measuring parent proxy-reported quality of life of 11 rare diseases in children in Zhejiang, China.

Health and quality of life outcomes
2021

Two Cases of Autoimmune Neutropenia Complicated with Other Lineages of Autoimmune Cytopenia, Successfully Treated with Prednisolone.

Internal medicine (Tokyo, Japan)
2021

Acute Kidney Injury Caused by Evans Syndrome with Systemic Lupus Erythematosus and Systemic Sclerosis.

Internal medicine (Tokyo, Japan)
2021

The impact of autoimmune cytopenias on the clinical course and survival of Hodgkin lymphoma.

International journal of hematology
2020

Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.

Annals of hematology
2020

Low-dose rituximab therapy in steroid-refractory thrombocytopenia due to systemic lupus erythematosus.

Rheumatology international
2020

Use of obinutuzumab for refractory autoimmune thrombocytopenia secondary to CLL.

EJHaem
2020

Idiopathic thrombocytopenic purpura is strongly associated with higher prevalence of aortic valve disease.

Annals of hematology
2020

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Rheumatology international
2020

Pathogenesis of immune thrombocytopenia in common variable immunodeficiency.

Autoimmunity reviews
2020

Complement activation in patients with immune thrombocytopenic purpura according to phases of disease course.

Clinical and experimental immunology
2020

A Case of Evans Syndrome with Acute Hemolysis and Hemoglobin Cast Nephropathy.

The American journal of case reports
2020

Rituximab treatment for dermatitis herpetiformis in the setting of type 1 diabetes mellitus, celiac disease, vitiligo, autoimmune hemolytic anemia, and autoimmune thrombocytopenia.

JAAD case reports
2019

Mikulicz's Disease With Immune Thrombocytopenia: A New Immunoglobulin G4-Mediated Disorder and Literature Review.

Archives of rheumatology
2019

Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies.

GE Portuguese journal of gastroenterology
2019

Autoimmune thrombocytopenia: Current treatment options in adults with a focus on novel drugs.

European journal of haematology
2019

Vitamin D supplementation for the prevention or depletion of side effects of therapy with alemtuzumab in multiple sclerosis.

Therapeutics and clinical risk management
2020

Predictors for Autoimmune Cytopenias after Allogeneic Hematopoietic Cell Transplantation in Children.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
2019

A Rare Case of Multiple Myeloma Presenting as Evan's Syndrome.

Journal of investigative medicine high impact case reports
2019

Low percentages of regulatory T cells in common variable immunodeficiency (CVID) patients with autoimmune diseases and its association with increased numbers of CD4+CD45RO+ T and CD21low B cells.

Allergologia et immunopathologia
2019

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

Haematologica
2019

Glucocorticoids promote response to thrombopoietin-receptor agonists in refractory ITP: a case series.

International journal of hematology
2019

Pathophysiology of Autoimmune Thrombocytopenia: Current Insight with a Focus on Thrombopoiesis.

Hamostaseologie
2019

Hemoperitoneum after Ovulation in Systemic Lupus Erythematosus and Autoimmune Thrombocytopenia.

Case reports in obstetrics and gynecology
2018

Allergic Contact Dermatitis, Angioneurotic Edema and Conjunctivitis in a Patient with Autoimmune Thrombocytopenia - A Clinical Case.

Open access Macedonian journal of medical sciences
2019

The Association Between Human Leukocyte Antigens and ITP, TTP, and HIT.

Journal of pediatric hematology/oncology
2019

Infundibuloneurohypophysitis associated with autoimmune thrombocytopenia and chiasmal syndrome: a case report.

Acta neurologica Belgica
2018

Follicular Helper T Cells in DiGeorge Syndrome.

Frontiers in immunology
2018

Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated With RAS-associated Autoimmune Leukoproliferative Disease.

Journal of pediatric hematology/oncology
2018

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?

Frontiers in immunology
2018

Autoimmune haemolytic anaemia and autoimmune thrombocytopenia in childhood-onset systemic lupus erythematosus: updates on pathogenesis and treatment.

Current opinion in rheumatology
2020

Evans Syndrome After Successful Immunosuppressant-Free Living-Donor Liver Transplant.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2018

Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency.

International journal of pediatrics
2019

Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome.

Journal of pediatric hematology/oncology
2018

Intracranial Hemorrhage and Autoimmune Thrombocytopenia in a Neonate: A Rare "Unpredictable" Event.

Child neurology open
2018

Adult-onset primary cyclic autoimmune neutropenia: a case report.

Transfusion
2018

[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2018

Splenectomy in systemic lupus erythematosus and autoimmune hematologic disease: a comparative analysis.

Clinical rheumatology
2018

Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2018

Re: Severe Primary Autoimmune Thrombocytopenia (ITP) in Pregnancy: a national cohort study Primary immune thrombocytopenia management during pregnancy. A French study.

BJOG : an international journal of obstetrics and gynaecology
2018

Maternal autoimmune disorders and fetal defects.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2018

GPIIb/IIIa autoantibody predicts better rituximab response in ITP.

British journal of haematology
2017

Clinical and serological autoimmune complications in chronic lymphocytic leukemia.

Wiener klinische Wochenschrift
2017

Clinical and Laboratory Features of CD5-Negative Chronic Lymphocytic Leukemia.

Medical science monitor : international medical journal of experimental and clinical research
2018

Severe primary autoimmune thrombocytopenia in pregnancy: a national cohort study.

BJOG : an international journal of obstetrics and gynaecology
2017

Thymus transplantation for complete DiGeorge syndrome: European experience.

The Journal of allergy and clinical immunology
2017

Is Autoimmune Thrombocytopenia Itself the Primary Disease in the Presence of Second Diseases Data from a Long-Term Observation.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2017

Thrombotic thrombocytopenic purpura misdiagnosed as autoimmune cytopenia: Causes of diagnostic errors and consequence on outcome. Experience of the French thrombotic microangiopathies reference centre.

American journal of hematology
2017

Intravenous Immunoglobulin in Pediatric Rheumatology: When to Use It and What Is the Evidence.

Pediatric annals
2017

[Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2017

New aspects on the efficacy of high-dose intravenous immunoglobulins in patients with autoimmune thrombocytopenia.

Vox sanguinis
2016

Polymorphisms in NAT2 (N-acetyltransferase 2) gene in patients with systemic lupus erythematosus.

Revista brasileira de reumatologia
2016

Autoimmune Cytopenias: Diagnosis & Management.

Rhode Island medical journal (2013)
2017

An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma.

International journal of hematology
2016

Clinical Features of Patients with Castleman's Disease Complicated Systemic Lupus Erythematosus.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2016

Thrombopoietin Receptor Agonists Are Often Ineffective in Immune Thrombocytopenia and/or Cause Adverse Reactions: Results from One Hand.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2017

Sulfasalazine induced immune thrombocytopenia in a patient with rheumatoid arthritis.

Clinical rheumatology
2017

In vivo effector functions of high-affinity mouse IgG receptor FcγRI in disease and therapy models.

Journal of autoimmunity
2017

Multicentre, randomised phase III study of the efficacy and safety of eltrombopag in Chinese patients with chronic immune thrombocytopenia.

British journal of haematology
2017

Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.

Pediatric blood & cancer
2017

Anti-Interleukin-6 Receptor Tocilizumab for Severe Juvenile Idiopathic Arthritis-Associated Uveitis Refractory to Anti-Tumor Necrosis Factor Therapy: A Multicenter Study of Twenty-Five Patients.

Arthritis & rheumatology (Hoboken, N.J.)
2016

Neuromyelitis optica spectrum disorder coinciding with hematological immune disease: A case report.

Multiple sclerosis and related disorders
2016

Self-administered hyaluronidase-facilitated subcutaneous immunoglobulin therapy in complicated primary antibody deficiencies.

Immunotherapy
2016

Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.

Journal of clinical immunology
2016

Autoimmunity and infection in common variable immunodeficiency (CVID).

Autoimmunity reviews
2017

Decreased function of Fas and variations of the perforin gene in adult patients with primary immune thrombocytopenia.

British journal of haematology
2016

Overlap of IgG4-related Disease and Primary Biliary Cirrhosis Complicated with Autoimmune Thrombocytopenia.

Internal medicine (Tokyo, Japan)
2016

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Clinical immunology (Orlando, Fla.)
2016

Efficacy of abatacept in systemic lupus erythematosus: a retrospective analysis of 11 patients with refractory disease.

Lupus
2016

[A case of human immunodeficiency virus infection with cerebellar ataxia that suggested by an association with autoimmunity].

Rinsho shinkeigaku = Clinical neurology
2016

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Journal of clinical immunology
2016

Platelet proteomics in diagnostic differentiation of primary immune thrombocytopenia using SELDI-TOF-MS.

Clinica chimica acta; international journal of clinical chemistry
2016

Fetal and neonatal alloimmune thrombocytopenia.

Seminars in fetal & neonatal medicine
2015

Refractory Immunological Thrombocytopenia Purpura and Splenectomy in Pregnancy.

Case reports in immunology
2016

Romiplostim for the treatment of glioblastoma-related paraneoplastic autoimmune thrombocytopenia refractory to conventional therapy.

Annals of hematology
2015

Autoimmune Thrombocytopenia Complicated by EDTA- and/or Citrate-Dependent Pseudothrombocytopenia.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2015

The Differential Diagnosis of Thrombocytopenia in Pregnancy.

Deutsches Arzteblatt international
2016

[Diagnosis of inherited thrombocytopenia].

La Revue de medecine interne
2015

Successful Treatment with Rituximab in a Patient with Castleman's Disease Complicated by Systemic Lupus Erythematosus and Severe Autoimmune Thrombocytopenia.

Chinese medical journal
2015

Efficacy and Safety of Rituximab in Systemic Lupus Erythematosus and Sjögren Syndrome Patients With Refractory Thrombocytopenia: A Retrospective Study of 21 Cases.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
2015

Venous thromboembolism related to warm autoimmune hemolytic anemia: a case-control study.

Autoimmunity reviews
2015

Severe immune thrombocytopenia after peg-interferon-alpha2a, ribavirin and telaprevir treatment completion: A case report and systematic review of literature.

World journal of hepatology
2015

Sulfamethoxazole-induced thrombocytopenia masquerading as posttransfusion purpura: a case report.

Transfusion
2015

Resolution of paraneoplastic immune thrombocytopenia following everolimus treatment for metastatic renal cell carcinoma.

Internal medicine journal
2015

In vitro thromboelastometric evaluation of the efficacy of frozen platelet transfusion.

Thrombosis research
2015

Rituximab therapy has a rapid and durable response for refractory cytopenia in childhood-onset systemic lupus erythematosus.

Lupus
2015

Antibody binding to megakaryocytes in vivo in patients with immune thrombocytopenia.

European journal of haematology
2014

Autoimmune thrombocytopenia: a complication of fludarabine therapy in the treatment of Waldenstrom's macroglobulinemia.

International journal of clinical and experimental medicine
2015

Steroid-resistant autoimmune thrombocytopenia in systemic lupus erythematosus treated with rituximab.

Indian journal of dermatology
2014

Wilson disease with thrombocytopenia (case report).

Georgian medical news
Ver todos os 371 no EuropePMC

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Doenças relacionadas

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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.

  1. STAT3R152W Mutation Model Reveals Temporal Changes in Hematopoietic Populations.
    International journal of molecular sciences· 2026· PMID 41684006mais citado
  2. TNFAIP3 Gene Polymorphisms and the Risk of Thrombocytopenia: A Cross-Sectional Study in Iranian Population.
    Health science reports· 2026· PMID 41492332mais citado
  3. Investigating the link between Helicobacter pylori infection and idiopathic thrombocytopenic purpura a case-control study.
    Annals of medicine and surgery (2012)· 2026· PMID 41675911mais citado
  4. [Fasciitis-like primary breast pyoderma gangrenosum: A rare case report].
    Annales de chirurgie plastique et esthetique· 2026· PMID 41654471mais citado
  5. Pulmonary Embolism and Myocardial Infarction With Non-obstructive Coronary Arteries in Immune Thrombocytopenia: Unmasking Underlying Antiphospholipid Syndrome.
    Cureus· 2026· PMID 41640928mais citado
  6. Efficacy and Safety of Subcutaneous Efgartigimod PH20 in Adults With Primary Immune Thrombocytopenia (ADVANCE SC): A Multicenter, Randomized, Double-Blinded, Placebo-Controlled, Phase 3 Trial.
    Am J Hematol· 2026· PMID 41943179recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:71203(Orphanet)
  2. MONDO:0019098(MONDO)
  3. Purpura Trombocitopenica Idiopatica(PCDT · Ministério da Saúde)
  4. GARD:18906(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55788483(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

Trombocitopenia autoimune
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Trombocitopenia autoimune

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