Raras
Buscar doenças, sintomas, genes...
Neutropenia idiopática do adulto
ORPHA:2688CID-10 · D70CID-11 · 4B00.01OMIM 607847DOENÇA RARA

A isotretinoína, também conhecida como ácido 13-cis-retinóico e vendida sob a marca Roacutan, entre outras, é um medicamento usado principalmente para tratar a acne grave. Também é usado para prevenir certos tipos de câncer de pele e no tratamento de outros tipos de câncer. É usado para tratar ictiose do tipo arlequim, uma doença de pele geralmente letal, e ictiose lamelar. É um retinóide, o que significa que está relacionado à vitamina A, e é encontrado em pequenas quantidades naturalmente no corpo. Seu isômero, a tretinoína, também é um medicamento para acne.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Neutropenia idiopática do adulto é uma condição rara com herança autossômica dominante, caracterizada por baixa contagem de neutrófilos, predispondo a infecções recorrentes e estomatite aftosa. Pode apresentar hipercelularidade da medula óssea e alterações morfológicas celulares.

Publicações científicas
425 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D70
Você se identifica com essa condição?
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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

🛡️
Imunológico
4 sintomas
🩸
Sangue
3 sintomas
🦴
Ossos e articulações
2 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Contagem total de neutrófilos diminuída
90%prev.
Infecção por Helicobacter pylori
Muito frequente (99-80%)
55%prev.
Infecções bacterianas recorrentes
Frequente (79-30%)
55%prev.
Linfopenia
Frequente (79-30%)
55%prev.
Morfologia anormal das células da medula óssea
Frequente (79-30%)
55%prev.
Infecções recorrentes
Frequente (79-30%)
17sintomas
Muito frequente (2)
Frequente (4)
Ocasional (7)
Muito raro (3)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.

Contagem total de neutrófilos diminuídaDecreased total neutrophil count
Muito frequente100%
Infecção por Helicobacter pyloriHelicobacter pylori infection
Muito frequente (99-80%)90%
Infecções bacterianas recorrentesRecurrent bacterial infections
Frequente (79-30%)55%
LinfopeniaLymphopenia
Frequente (79-30%)55%
Morfologia anormal das células da medula ósseaAbnormality of bone marrow cell morphology
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico425PubMed
Últimos 10 anos178publicações
Pico201821 papers
Linha do tempo
2026Hoje · 2026📈 2018Ano 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. Padrão de herança: Not applicable.

GFI1Zinc finger protein Gfi-1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Transcription repressor essential for hematopoiesis (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). Functions in a cell-context and development-specific manner (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Transcriptional regulation of granulopoiesis
MECANISMO DE DOENÇA

Neutropenia, severe congenital 2, autosomal dominant

A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
12.6 TPM
Baço
9.7 TPM
Intestino delgado
7.7 TPM
Pâncreas
5.6 TPM
Sangue
4.4 TPM
OUTRAS DOENÇAS (3)
neutropenia, severe congenital, 2, autosomal dominantnonimmune chronic idiopathic neutropenia of adultsautosomal dominant severe congenital neutropenia
HGNC:4237UniProt:Q99684

Variantes genéticas (ClinVar)

25 variantes patogênicas registradas no ClinVar.

🧬 GFI1: GRCh37/hg19 1p31.3-21.3(chr1:65412037-95735764)x1 ()
🧬 GFI1: NM_005263.5(GFI1):c.-100+795C>T ()
🧬 GFI1: NM_005263.5(GFI1):c.244C>T (p.Arg82Trp) ()
🧬 GFI1: NM_005263.5(GFI1):c.765C>A (p.Tyr255Ter) ()
🧬 GFI1: NM_005263.5(GFI1):c.258T>G (p.Phe86Leu) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Neutropenia idiopática do adulto

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Pediatric Evans Syndrome Diagnostic Evaluation Patterns: Survey Results From the Pediatric ITP Consortium of North America.

Pediatric blood &amp; cancer2026 Apr

Evans syndrome (ES) is a rare immune-mediated disorder involving two or more cytopenias, including immune thrombocytopenia (ITP), autoimmune hemolytic anemia, and/or immune neutropenia. ES may occur secondary to another condition or be idiopathic. While consensus recommendations exist for adults, there is no standardized diagnostic approach for pediatric Evans syndrome (pES). This study aimed to describe typical diagnostic evaluations conducted by clinicians caring for pES patients. A cross-sectional survey of the Pediatric ITP Consortium of North America (ICON) assessed typical diagnostic workup for pES, the influence of clinical features on testing, evaluation for underlying disorders, including immune defects and autoimmune disease, subspecialty involvement, and genetic testing practices. Sixty percent (28/47) of respondents reported performing the same evaluation for all pES patients. There was no consensus on specific diagnostic tests. Providers consistently evaluated for autoimmune conditions, but varied in testing for inborn errors of immunity (IEI). Rheumatology and immunology were most often consulted. Most respondents (85%, n = 40) obtained genetic testing through commercial laboratories, frequently encountering insurance-related barriers. Even among experts, diagnostic approaches to pES vary widely. Standardized frameworks are needed to guide comprehensive evaluation for this complex disorder.

#2

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

International journal of molecular sciences2025 Jul 18

Non-remitting neutropenia in children and chronic idiopathic neutropenia (CIN) in adults have been described previously as peculiar subgroups of neutropenic patients carrying similar clinical and immunological features. The present collection comprising 25 subjects (16 adults and 9 children) mostly affected with mild (84%) and moderate (16%) neutropenia aimed to identify the underlying (possibly common) genetic background. The phenotype of these patients resemble the one described previously: no severe infections, presence of rheumathological signs, leukopenia in almost all patients and lymphocytopenia in one-third of the cohort. The pediatric patients did not share common genes with the adults, based on the results of the multisample test, while some singular variants in neutropenia potentially associated with immune dysregulation likely consistent with the phenotype were found. SPINK5, RELA and CARD11 were retrieved and seem to be consistent with the clinical picture characterized by neutropenia associated to immune dysregulation. The enrichment and burden tests performed in comparison with a control group underline that the products of expression by the variants involved belong to the autoimmunity and immune regulation pathways (i.e., SPINK5, PTPN22 and PSMB9). Even with the limitation of this study's low number of patients, these results may suggest that non-remitting neutropenia and CIN in adults deserve deep genetic study and enlarged consideration in comparison with classical neutropenia.

#3

Neutropenia: Evaluation and Management in the Primary Care Setting.

American family physician2025 Dec

Neutropenia is defined as an absolute neutrophil count of less than 1,500 per μL in adults and children older than 1 year, and less than 1,000 per μL in infants. Neutropenia can be acquired or inherited. It is classified as mild (1,000-1,500 per μL), moderate (500-999 per μL), or severe (less than 500 per μL). Patient presentation can range from asymptomatic to severe illness requiring hospitalization. Acquired neutropenias and their causes include autoimmune neutropenia, chronic idiopathic neutropenia, chemotherapy-induced neutropenia, febrile neutropenia, hematologic malignancy, idiosyncratic drug-induced neutropenia, infection-related neutropenia, and nutritional deficiency (ie, vitamin B12, folate, and copper). Inherited neutropenias and their causes include bone marrow failure, cyclic neutropenia, and severe congenital neutropenia. Genetic testing may be required for diagnosis. Acquired neutropenias are treated by addressing the underlying etiologies. Some patients experiencing recurrent severe infections may benefit from granulocyte colony-stimulating factor. Most inherited neutropenias are treated with granulocyte colony-stimulating factor. Febrile neutropenia is an oncologic emergency. It is defined as a single oral temperature of 101°F or greater or a temperature of 100.4°F or greater sustained for 1 hour with an absolute neutrophil count of less than 500 per μL. Febrile neutropenia warrants emergent evaluation, but low-risk patients with a malignancy who meet strict criteria can be treated as outpatients.

#4

Sarilumab in Polyarticular-Course Juvenile Idiopathic Arthritis: Dose-Finding and 1-Year Analysis of a Phase 2b, Open-Label, Multicenter Study.

Arthritis care &amp; research2025 Nov 14

This study assessed sarilumab in treating patients with polyarticular-course juvenile idiopathic arthritis (pcJIA). This phase 2b, open-label study (NCT02776735) consisted of three sequential parts (each with a core-treatment and extension phase). During part 1, three doses were assessed in two weight groups (group A/B: ≥30-60 kg/≥10 to <30 kg) to select the optimal dose with regard to pharmacokinetics, safety and efficacy were evaluated in latter parts. During the extension phase of part 1, patients initially assigned to the selected optimal dose continued on this dose; the remaining patients were switched to this selected dose. Patients in parts 2 and 3 received the selected dose from baseline. The primary endpoint was pharmacokinetic exposure (area under the serum concentration versus time curve during a dose interval Շ of 2 weeks [AUC0-Շ], maximum serum concentration observed [Cmax], and concentrations observed before treatment administration during repeated dosing [Ctrough]). Safety and efficacy were assessed. The mean age of treated patients (N = 101; 76.2% female) was 9.4 years. Of the evaluated doses in part 1, dose 2 (group A/B: 3.0/4.0 mg/kg every 2 weeks [q2w]) was selected. In patients receiving the selected dose from baseline (n = 73), Cmax, AUC0-14 days and Ctrough at steady state in group A/B were 27.1/40.4 mg/L, 276/395-day*mg/L, and 9.57/14.4 mg/L, respectively. At week 48, the JIA-American College of Rheumatology 30%, 50%, 70%, and 90% improvement criteria rates were 100%, 100%, 93.8%, and 76.6%, respectively. Adverse events were reported in 70 of 73 patients (95.9%). Twenty-seven patients (37%) experienced grade 3/4 neutropenia; there were no associated infections. No deaths occurred. In patients with pcJIA receiving the selected dose from baseline, pharmacokinetic exposure was comparable to a dose of 200 mg q2w for adults with rheumatoid arthritis. Clinically relevant improvements were observed in disease activity, with safety being consistent with the known profile of sarilumab.

#5

Isolated Chronic Neutropenia in Adults: Causes, Diagnostic Work-Up, and Management-A Narrative Review.

Journal of clinical medicine2025 Oct 23

Neutropenia is certainly of clinical significance due to its increased risk of infections in most patients. Chronic neutropenia is defined as neutropenia that persists for more than 3 months. Isolated chronic neutropenia is rare in clinical practice, and its differential diagnosis can be challenging. This rare entity is the focus of this review. Here, we examine the common causes (drugs, hereditary, autoimmune, and idiopathic), diagnostic work-up, and management of chronic isolated neutropenia in adults. We also discuss the Duffy-null-associated neutrophil count (DANC), which has a high prevalence (80-100%) in Sub-Saharan Africans and in Arabs and is not considered a medical condition. It should be highlighted that management decisions in patients with chronic isolated neutropenia should be individualized, mainly taking into account their clinical history over the neutrophil count alone. In this narrative review, we exclusively focus on non-malignant, non-cytotoxic and non-chemotherapy-induced forms of isolated chronic neutropenia in adults.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 175

2025

Neutropenia: Evaluation and Management in the Primary Care Setting.

American family physician
2026

Pediatric Evans Syndrome Diagnostic Evaluation Patterns: Survey Results From the Pediatric ITP Consortium of North America.

Pediatric blood &amp; cancer
2025

Sarilumab in Polyarticular-Course Juvenile Idiopathic Arthritis: Dose-Finding and 1-Year Analysis of a Phase 2b, Open-Label, Multicenter Study.

Arthritis care &amp; research
2025

Isolated Chronic Neutropenia in Adults: Causes, Diagnostic Work-Up, and Management-A Narrative Review.

Journal of clinical medicine
2025

[Efficacy and Safety of Zanubrutinib in the Treatment of Autoimmune Cytopenia Secondary to Indolent B-Cell Lymphoma].

Zhongguo shi yan xue ye xue za zhi
2025

Acute Respiratory Distress Syndrome Phenotypes After Stem Cell Transplantation: A Latent Class Analysis.

Critical care explorations
2025

Beyond Lungs: Hematuria as the Primary Presentation of Immune Thrombocytopenic Purpura in Case of Extrapulmonary Tuberculosis Complicated with Rifampicin-induced Thrombocytopenia Posing Diagnostic and Therapeutic Challenge.

The Journal of the Association of Physicians of India
2025

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

International journal of molecular sciences
2025

Lupus nephritis association with idiopathic CD4 + T lymphocytopenia: a case report of a young man with recalcitrant warts.

BMC nephrology
2025

The efficacy and safety of ripertamab in the treatment of idiopathic membranous nephropathy: a retrospective multicenter cohort study.

Scientific reports
2025

Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.

Annals of hematology
2025

Disseminated Nocardiosis in Idiopathic CD4 Lymphocytopenia: A Rare Case and Literature Review.

Internal medicine (Tokyo, Japan)
2025

Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.

Immunologic research
2024

Disseminated Mycobacterium abscessus infection with idiopathic CD4+ T-lymphocytopenia: a case report and review of the literature.

Journal of medical case reports
2025

Intraorbital rituximab to treat orbital inflammation in a patient with active neoplasia.

Archivos de la Sociedad Espanola de Oftalmologia
2024

Pulmonary and Medullary Tuberculosis: An Uncommon Cause of Evans Syndrome in Adults.

Cureus
2024

Sweet syndrome in patients with and without malignancy: a retrospective study of 66 cases from a tertiary care centre.

European journal of dermatology : EJD
2024

Isolated Severe Neutropenia in Adults, Evaluation of Underlying Causes and Outcomes, Real-World Data Collected over a 5-Year Period in a Tertiary Referral Hospital.

Medicina (Kaunas, Lithuania)
2024

Anti-CD19 CAR-T cells are effective in severe idiopathic Lambert-Eaton myasthenic syndrome.

Cell reports. Medicine
2024

Idiopathic multicentric Castleman disease.

Journal of cancer research and therapeutics
2024

Recurrent pulmonary nocardiosis due to Nocardia Otitidiscaviarum in a patient with isolated CD4 lymphocytopenia: a case report.

BMC infectious diseases
2024

Natural history of chronic idiopathic neutropenia of the adult.

Scientific reports
2024

Evans syndrome: Disease awareness and clinical management in a nation-wide ITP-NET survey.

European journal of haematology
2024

Clonal Hematopoiesis in Patients With Neuroendocrine Tumor Treated With Lutetium-177 and the Risk of Thrombocytopenia: A Prospective Study.

JCO precision oncology
2024

AWMF mold guideline "Medical clinical diagnostics for indoor mold exposure" - Update 2023 AWMF Register No. 161/001.

Allergologie select
2024

COVID-19 Severity and Mortality in Veterans with Chronic Lung Disease.

Annals of the American Thoracic Society
2024

Nintedanib plus Chemotherapy for Small Cell Lung Cancer with Comorbid Idiopathic Pulmonary Fibrosis.

Annals of the American Thoracic Society
2024

Immune responses to SARS-CoV-2 mRNA vaccination in people with idiopathic CD4 lymphopenia.

The Journal of allergy and clinical immunology
2024

Disseminated cryptococcosis in a patient with idiopathic CD4 + T lymphocytopenia presenting as prostate and adrenal nodules: diagnosis from pathology and mNGS, a case report.

BMC infectious diseases
2023

Long-Term Tolerance and Efficacy of Siltuximab (Anti-IL-6) in a Young Adult with Idiopathic Multicentric Castleman Disease During COVID-19.

European journal of case reports in internal medicine
2024

Reference guide for the diagnosis of adult primary immune thrombocytopenia, 2023 edition.

International journal of hematology
2024

Splenectomy outcomes in immune cytopenias: Treatment outcomes and determinants of response.

Journal of internal medicine
2023

[Clozapine-induced Tubulointerstitial Nephritis].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
2023

Anakinra and hepatotoxicity in pediatric rheumatology: a case series.

Pediatric rheumatology online journal
2023

Paediatric-onset Evans syndrome: Breaking away from refractory immune thrombocytopenia.

British journal of haematology
2023

Disseminated coinfection with Mycobacterium Avium complex and Mycobacterium Kansasii in a patient with idiopathic CD4+ lymphocytopenia: A case report.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2023

New approaches to idiopathic neutropenia in the era of clonal hematopoiesis.

Experimental hematology &amp; oncology
2023

Efficacy of Baricitinib in Patients with Refractory Adult-Onset Still's Disease.

Drugs in R&amp;D
2023

Safety and Efficacy of Tyrosine Kinase Inhibitors in Immune Thrombocytopenic Purpura: A Systematic Review of Clinical Trials.

Journal of xenobiotics
2023

A young Saudi female with combined hemophagocytic lympho-histiocytosis and Kikuchi's disease: A case report.

SAGE open medical case reports
2023

Disseminated nontuberculous mycobacterial infection in a patient with idiopathic CD4 lymphocytopenia and IFN-γ neutralizing antibodies: a case report.

BMC infectious diseases
2022

Therapeutic Options in Refractory Evans Syndrome: A Case Report.

Cureus
2023

Autoimmune Neutropenias: Update on Clinical and Biological Features in Children and Adults.

HemaSphere
2022

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.

Frontiers in immunology
2022

Practice patterns and outcomes of hemophagocytic lymphohistiocytosis in adults: a 2-decade provincial retrospective review.

Annals of hematology
2022

Rare Presentation of Inflammatory Myofibroblastic Tumor as Intussusception in a Child with Idiopathic Aplastic Anemia.

Journal of Indian Association of Pediatric Surgeons
2022

[Successful treatment of chronic idiopathic neutropenia in an elderly with ciclosporin].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2022

Metastatic rectal neuroendocrine carcinoma presenting with treatment-refractory immune thrombocytopenia: A case report and literature review.

Medicine
2022

Palbociclib plus letrozole induces a complete metabolic response in metastatic breast cancer patient with idiopathic thrombocytopenia.

Recenti progressi in medicina
2023

Disseminated Cryptococcosis in Idiopathic CD4+ Lymphocytopenia.

Infectious disorders drug targets
2022

Evans Syndrome: A Case Report.

JNMA; journal of the Nepal Medical Association
2022

Characteristics of Sweet syndrome in patients with or without malignancy.

Annals of hematology
2022

Long-Term Efficacy and Safety of Repeated Rituximab to Maintain Remission in Idiopathic Childhood Nephrotic Syndrome: An International Study.

Journal of the American Society of Nephrology : JASN
2022

Current challenges of hematologic complications due to immune checkpoint blockade: a comprehensive review.

Annals of hematology
2022

Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
2022

Alemtuzumab-induced red cell aplasia and other immune cytopenias: not so 'pure'.

Immunotherapy
2021

Idiopathic thrombocytopenic purpura as a hematologic manifestation of COVID-19 infection: A case report.

Respiratory medicine case reports
2021

Case report of Barth syndrome: a forgotten cause of cardiomyopathy.

European heart journal. Case reports
2021

Incidence and prognosis of clonal hematopoiesis in patients with chronic idiopathic neutropenia.

Blood
2021

Successful Cord Blood Transplantation for Idiopathic CD4+ Lymphocytopenia.

Acta haematologica
2021

Eltrombopag for the treatment of refractory thrombocytopenia associated with connective tissue disease.

Scientific reports
2021

The blood protein hCAP-18 in neutropenia: An 18-month experience of a new ELISA for clinical use.

Scandinavian journal of immunology
2020

Are Patients With Autoimmune Cytopenias at Higher Risk of COVID-19 Pneumonia? The Experience of a Reference Center in Northern Italy and Review of the Literature.

Frontiers in immunology
2021

Association of Rituximab Use With Adverse Events in Children, Adolescents, and Young Adults.

JAMA network open
2021

Combined immunodeficiency (CVID and CD4 lymphopenia) is associated with a high risk of malignancy among adults with primary immune deficiency.

Clinical and experimental immunology
2021

Characterization of autoantibodies, immunophenotype and autoimmune disease in a prospective cohort of patients with idiopathic CD4 lymphocytopenia.

Clinical immunology (Orlando, Fla.)
2021

Expanded utilization of rituximab in paediatric cardiac transplant patients.

Journal of clinical pharmacy and therapeutics
2020

Cutaneous Rosai - Dorfman disease in a patient with late syphilis and cervical cancer - case report and a review of literature.

BMC dermatology
2021

Temozolomide-induced aplastic anaemia: Case report and review of the literature.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2020

"Borderline" idiopathic CD4+ T-cell lymphocytopenia presenting with atypical progressive multifocal leukoencephalopathy.

Journal of neuroimmunology
2021

A splice acceptor variant in HLA-DRA affects the conformation and cellular localization of the class II DR alpha-chain.

Immunology
2021

Comparison of antiplatelet antibody profiles between hepatitis C virus-associated immune thrombocytopenia and primary immune thrombocytopenia.

Platelets
2021

Autoimmune hematologic complications of umbilical cord blood transplantation.

Hematology/oncology and stem cell therapy
2020

Expanding mechanistic insights into the pathogenesis of idiopathic CD4+ T cell lymphocytopenia.

The Journal of clinical investigation
2020

Subcutaneous apomorphine infusion in advanced idiopathic Parkinson's disease and agranulocytosis: a case report.

Parkinsonism &amp; related disorders
2020

Porto-Sinusoidal Vascular Disease as the Cause of Portal Hypertension in Felty's Syndrome: A Case Report and Literature Review.

BioMed research international
2020

Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia.

The Journal of clinical investigation
2021

Rhodococcus equi infection as inaugural manifestation of idiopathic CD4+ lymphopenia: A rare entity and a therapeutic challenge.

Pulmonology
2020

Presence of paroxysmal nocturnal hemoglobinuria in patients with idiopathic portal vein thrombosis: a single-center study.

Turkish journal of medical sciences
2020

A study for precision diagnosing and treatment strategies in difficult-to-treat AIDS cases and HIV-infected patients with highly fatal or highly disabling opportunistic infections.

Medicine
2020

Idiopathic CD4 lymphocytopenia in neurological disorders.

Clinical neurology and neurosurgery
2020

PD-1 blockade for disseminated Kaposi sarcoma in a patient with atopic dermatitis and chronic CD8 lymphopenia.

Immunotherapy
2020

[Characteristics of rare diseases in Zhejiang province, 2007-2017].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
2020

Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.

American journal of medical genetics. Part A
2020

Phenotypic variability in a child with Felty's syndrome: a case report.

BMC pediatrics
2020

Increased frequency of the single nucleotide polymorphism of the DARC/ACKR1 gene associated with ethnic neutropenia in a cohort of European patients with chronic idiopathic neutropenia.

American journal of hematology
2020

Successful Introduction of Peritoneal Dialysis in an End-stage Renal Failure Patient with Idiopathic Aplastic Anemia.

Internal medicine (Tokyo, Japan)
2020

Can gut microbiota of men who have sex with men influence HIV transmission?

Gut microbes
2020

Long-term safety of siltuximab in patients with idiopathic multicentric Castleman disease: a prespecified, open-label, extension analysis of two trials.

The Lancet. Haematology
2020

Idiopathic CD4+ T lymphocytopenia: A case report.

Journal of postgraduate medicine
2020

Neutropenia following intravenous immunoglobulin therapy in adult patients with immune thrombocytopenic purpura: A single center experience and literature review.

Medicine
2019

T-cell large granular lymphocytic (LGL) leukemia consists of CD4+/CD8dim and CD4-/CD8+ LGL populations in association with immune thrombocytopenia, autoimmune neutropenia, and monoclonal B-cell lymphocytosis.

Journal of clinical and experimental hematopathology : JCEH
2019

Complete Multilineage CD4 Expression Defect Associated With Warts Due to an Inherited Homozygous CD4 Gene Mutation.

Frontiers in immunology
2019

Altered Monocyte Subsets in Patients with Chronic Idiopathic Neutropenia.

Journal of clinical immunology
2019

Pulmonary Cryptococcus infections as a manifestation of idiopathic CD4 lymphocytopenia: case report and literature review.

BMC infectious diseases
2019

Progressive multifocal leukoencephalopathy in idiopathic CD4+ lymphocytopenia: A case report and review of literature.

Neuropathology : official journal of the Japanese Society of Neuropathology
2019

Disseminated Mycobacterium intracellulare infection that led to recognition of idiopathic CD4+ lymphocytopenia.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2019

Cocaine-induced ANCA-associated renal disease: a case-based review.

Rheumatology international
2020

Disseminated cryptococcosis with granuloma formation in idiopathic CD4 lymphocytopenia.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2019

Humanized mouse models reveal an immunologic classification of idiopathic CD4 lymphocytopenia subtypes.

JCI insight
2019

Case Report: Rare comorbidity of celiac disease and Evans syndrome: The rare correlation of Celiac and Evans syndrome.

F1000Research
2019

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Mayo Clinic proceedings
2018

[Benign tumor of the oral cavity: idiopathic granuloma of the tongue].

The Pan African medical journal
2019

Identification of rare HIV-1-infected patients with extreme CD4+ T cell decline despite ART-mediated viral suppression.

JCI insight
2019

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia.

Journal of clinical immunology
2019

Idiopathic CD4 lymphopenia in a case of disseminated cryptococcosis with brain, vertebral spine and reproductive organ involvement.

Clinical medicine (London, England)
2019

A comparison of cyclophosphamide versus tacrolimus in terms of treatment effect for idiopathic membranous nephropathy: A meta-analysis.

Nefrologia
2018

SLICC classification criteria for juvenile systemic lupus erythematosus: a cross sectional study.

Acta reumatologica portuguesa
2019

Evaluation of cellular and humoral autoimmunity before the development of type 1 diabetes in a patient with idiopathic CD4 lymphocytopenia.

Journal of diabetes investigation
2018

Autoimmune hemolytic anemia, autoimmune neutropenia and aplastic anemia in the elderly.

European journal of internal medicine
2018

[Idiopathic CD4-positive lymphocytopenia-associated progressive multifocal leukoencephalopathy confirmed by brain biopsy following negative results of repeated CSF-JC-virus tests: a case report].

Rinsho shinkeigaku = Clinical neurology
2019

Clinical features of idiopathic portal hypertension in China: A retrospective study of 338 patients and literature review.

Journal of gastroenterology and hepatology
2018

Fatal Cryptococcus gattii meningitis with negative cryptococcal antigen test in a HIV-non-infected patient.

Indian journal of medical microbiology
2019

Idiopathic CD4 Lymphocytopenia with Fulminant Pneumocystis jirovecii Pneumonia.

American journal of respiratory and critical care medicine
2018

[Reference guide for adult chronic neutropenia].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2018

Successful treatment of progressive multifocal leukoencephalopathy with recombinant interleukin-7 and maraviroc in a patient with idiopathic CD4 lymphocytopenia.

Journal of neurovirology
2017

Diagnostic Challenges in Chronic Constrictive Pericarditis.

Revista portuguesa de cirurgia cardio-toracica e vascular : orgao oficial da Sociedade Portuguesa de Cirurgia Cardio-Toracica e Vascular
2018

Progressive multifocal leukoencephalopathy in idiopathic CD4+ lymphocytopenia.

Journal of neurovirology
2018

Long-term, interventional, open-label extension study evaluating the safety of tocilizumab treatment in patients with polyarticular-course juvenile idiopathic arthritis from Poland and Russia who completed the global, international CHERISH trial.

Clinical rheumatology
2018

[Neutrophil recovery by eltrombopag treatment in a patient with adult-onset autoimmune neutropenia and immune thrombocytopenia].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2018

Clinical predictors of bevacizumab-associated intestinal perforation in non-small cell lung cancer.

Investigational new drugs
2018

Concurrent Autoimmune Neutropenia and Idiopathic Thrombocytopenic Purpura Associated with IgG4-related Diease.

Internal medicine (Tokyo, Japan)
2018

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

Transfusion
2017

Incidental Chronic Neutropenia in an Asymptomatic Adult.

Cureus
2018

Efficacy and safety of rituximab for systemic lupus erythematosus-associated immune cytopenias: A multicenter retrospective cohort study of 71 adults.

American journal of hematology
2018

Diagnostic value of cell bound and circulating neutrophil antibody detection in pediatric neutropenia.

Pediatric blood &amp; cancer
2018

Cryptococcal meningitis in apparently immunocompetent patients: association with idiopathic CD4+ lymphopenia.

Practical neurology
2018

Mycobacterium genavense infections in non-HIV immunocompromised hosts: a systematic review.

Infectious diseases (London, England)
2018

Pneumocystis Pneumonia Secondary to Idiopathic CD4+ T-lymphocytopenia: A Comparison of AIDS and Non-AIDS Patients.

Internal medicine (Tokyo, Japan)
2018

Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry.

Journal of clinical immunology
2017

Disseminated Mycobacterium avium intracellulare leading to protein-losing enteropathy in an elderly man with idiopathic CD4 lymphocytopenia.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2017

Idiopathic CD4 lymphocytopenia: Pathogenesis, etiologies, clinical presentations and treatment strategies.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2017

Progressive multifocal leukoencephalopathy in a 44-year old male with idiopathic CD4+ T-lymphocytopenia treated with mirtazapine and mefloquine.

Neurology India
2018

A Phase I study to determine safety, pharmacokinetics, and pharmacodynamics of ANF-RHO™, a novel PEGylated granulocyte colony-stimulating factor, in healthy volunteers.

Investigational new drugs
2017

Immunoglobulin and B-cell disturbances in patients with chronic idiopathic neutropenia.

Clinical immunology (Orlando, Fla.)
2017

Unpaired Extracellular Cysteine Mutations of CSF3R Mediate Gain or Loss of Function.

Cancer research
2017

Radiology Case of the Month: Idiopathic CD4 Lymphocytopenia.

The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society
2017

Cytotoxic T cells in chronic idiopathic neutropenia express restricted antigen receptors.

Leukemia &amp; lymphoma
2018

TWENTY-FOUR MONTH FOLLOW-UP OF TOCILIZUMAB THERAPY FOR REFRACTORY UVEITIS-RELATED MACULAR EDEMA.

Retina (Philadelphia, Pa.)
2017

Visceral leishmaniasis complicating idiopathic CD4+ T-cell lymphocytopenia: 2 case reports.

PLoS neglected tropical diseases
2017

Idiopathic thrombocytopenic purpura and autoimmune neutropenia induced by prolonged use of nivolumab in Hodgkin's lymphoma.

Annals of oncology : official journal of the European Society for Medical Oncology
2017

Autoimmune Neutropenia Updates: Etiology, Pathology, and Treatment.

Southern medical journal
2017

Pneumocystis jiroveci pneumonia and GATA2 deficiency: Expanding the spectrum of the disease.

The Journal of infection
2017

Clinical evolution of autoimmune cytopenias to idiopathic cytopenias/dysplasias of uncertain significance (ICUS/IDUS) and bone marrow failure syndromes.

American journal of hematology
2016

[Rapidly progressive autoimmune pancytopenia successfully treated with steroids].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2016

Idiopathic CD4 lymphocytopenia.

Allergy and asthma proceedings
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
2017

An update on the diagnosis and treatment of chronic idiopathic neutropenia.

Current opinion in hematology
2016

Radial Ultrasound-Assisted Transbronchial Biopsy: A New Diagnostic Approach for Non-Resolving Pulmonary Infiltrates in Neutropenic Hemato-Oncological Patients.

Lung
2016

[A Case of Severe, Idiopathic Cytopenia of Undetermined Significance(ICUS)in an Elderly Patient].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2017

Clinicopathologic evaluation of cytopenic patients with isolated trisomy 8: a detailed comparison between idiopathic cytopenia of unknown significance and low-grade myelodysplastic syndrome.

Leukemia &amp; lymphoma
2016

Progressive Multifocal Leukoencephalopathy Localized in the Cerebellum and Brainstem Associated with Idiopathic CD4(+) T Lymphocytopenia.

Internal medicine (Tokyo, Japan)
2016

CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY.

Genetic counseling (Geneva, Switzerland)
2016

Changes in bone marrow morphology in adults receiving romiplostim for the treatment of thrombocytopenia associated with primary immune thrombocytopenia.

Annals of hematology
2016

Minor populations of paroxysmal nocturnal hemoglobinuria-type cells in patients with chronic idiopathic neutropenia.

European journal of haematology
2016

A 6-year treatment experience for pemphigus: retrospective study of 69 Chinese patients.

Dermatologic therapy
2016

Reduced 25-OH vitamin D in patients with autoimmune cytopenias, clinical correlations and literature review.

Autoimmunity reviews
2016

How we diagnose and treat neutropenia in adults.

Expert review of hematology
2016

An unusual complication after interventional cardiology reveals and infrequent condition: Idiopathic CD4 deficiency.

Journal of infection and public health
2016

Administration of interleukin-7 increases CD4 T cells in idiopathic CD4 lymphocytopenia.

Blood
2015

Optimizing outcomes in clozapine rechallenge following neutropenia: a cohort analysis.

The Journal of clinical psychiatry
2016

Eltrombopag Induced Thrombosis: A Case with Acute Myocardial Infarction.

Current drug safety
2016

Varicella Zoster Virus Necrotizing Retinitis in Two Patients with Idiopathic CD4 Lymphocytopenia.

Ocular immunology and inflammation
2016

Progressive multifocal leukoencephalopathy mimicking glioma in a patient with idiopathic CD4 lymphocytopenia.

Acta neurologica Belgica
2015

L-Asparaginase monotherapy for EBV-positive T/NK lymphoproliferative diseases: A pilot Study.

Journal of medical and dental sciences
2015

Is chronic neutropenia always a benign disease? Evidences from a 5-year prospective study.

European journal of internal medicine
2015

[A case of cerebellar brainstem form of progressive multifocal leukoencephalopathy associated with idiopathic CD4+ lymphocytopenia].

Rinsho shinkeigaku = Clinical neurology
2015

High frequency of autonomous T-cell proliferation compatible with T-cell large granular lymphocytic leukemia in patients with cytopenia of unknown etiology.

International journal of hematology
2015

T-Cell Depletion in the Colonic Mucosa of Patients With Idiopathic CD4+ Lymphopenia.

The Journal of infectious diseases
2015

Cutaneous Penicillium marneffei infection in a patient with idiopathic CD4(+) lymphocytopenia.

The Journal of dermatology
2015

[A case of tuberculous meningitis associated with persistently reduced CD4+ T lymphocyte counts].

Epidemiologie, mikrobiologie, imunologie : casopis Spolecnosti pro epidemiologii a mikrobiologii Ceske lekarske spolecnosti J.E. Purkyne
2015

[Secondary acute myeloid leukemia in a lung allograft recipient. Report of one case].

Revista medica de Chile
2015

DUSP4-mediated accelerated T-cell senescence in idiopathic CD4 lymphopenia.

Blood
2015

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
2015

Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia.

Obstetrics and gynecology

Associações

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Comunidades

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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. Pediatric Evans Syndrome Diagnostic Evaluation Patterns: Survey Results From the Pediatric ITP Consortium of North America.
    Pediatric blood &amp; cancer· 2026· PMID 41518117mais citado
  2. Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.
    International journal of molecular sciences· 2025· PMID 40725177mais citado
  3. Neutropenia: Evaluation and Management in the Primary Care Setting.
    American family physician· 2025· PMID 41533406mais citado
  4. Sarilumab in Polyarticular-Course Juvenile Idiopathic Arthritis: Dose-Finding and 1-Year Analysis of a Phase 2b, Open-Label, Multicenter Study.
    Arthritis care &amp; research· 2025· PMID 41235938mais citado
  5. Isolated Chronic Neutropenia in Adults: Causes, Diagnostic Work-Up, and Management-A Narrative Review.
    Journal of clinical medicine· 2025· PMID 41226891mais citado
  6. Correction: Effectiveness and safety of rituximab monotherapy versus conventional regimens for adult idiopathic membranous nephropathy: real-world retrospective study.
    Front Immunol· 2026· PMID 41939875recente
  7. Plasma exchange in adult idiopathic inflammatory myositis: a systematic review and meta-analysis.
    Clin Rheumatol· 2026· PMID 41915329recente
  8. Surgical outcomes in adult scheuermann's kyphosis: a matched-cohort comparison with adult idiopathic scoliosis as a clinical benchmark.
    Spine Deform· 2026· PMID 41845140recente
  9. Nationwide Retrospective Analysis of Early Complications after Adult Spinal Deformity Surgery: Insights from the Japanese Spinal Instrumentation Society Database Registry.
    Spine (Phila Pa 1976)· 2026· PMID 41740592recente
  10. Fracture of robust fusion mass after sequential long-construct instrumentation removal: illustrative case.
    J Neurosurg Case Lessons· 2026· PMID 41698195recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2688(Orphanet)
  2. OMIM OMIM:607847(OMIM)
  3. MONDO:0011922(MONDO)
  4. GARD:16605(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55783535(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

Neutropenia idiopática do adulto
Compêndio · Raras BR

Neutropenia idiopática do adulto

ORPHA:2688 · MONDO:0011922
Prevalência
Unknown
Herança
Not applicable
CID-10
D70 · Agranulocitose
CID-11
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1842930
Wikidata
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