Distúrbio hematológico causado por uma mutação no gene ELANE (ELA2); as manifestações clínicas incluem neutropenia recorrente com suscetibilidade resultante a infecções que levam à febre.
Introdução
O que você precisa saber de cara
Distúrbio hematológico causado por uma mutação no gene ELANE (ELA2); as manifestações clínicas incluem neutropenia recorrente com suscetibilidade resultante a infecções que levam à febre.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 35 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106). Promotes blood coagulation (PubMed:20676107). Through the activation of the platelet fibrinogen receptor integrin alpha-IIb/beta-3, potentiates platelet aggregation induced by a threshold concentration of cathepsin G (CTSG) (PubMed:25211214, P
Cytoplasmic vesicle, phagosome
Cyclic haematopoiesis
Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
193 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
8 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Neutropenia cíclica
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Outros ensaios clínicos
Publicações mais relevantes
Inherited disorders of granulopoiesis - understanding pathogenesis to advance new therapies.
The central importance of neutrophils for human health is clearly demonstrated by the clinical presentation of patients with severe congenital neutropenia (CN) and cyclic neutropenia (CyN). The majority of CN patients with neutropenia as their only symptom do not survive the first year of life unless they are treated with recombinant human cytokine granulocyte colony-stimulating factor (rhG-CSF) or undergo allogeneic bone marrow transplantation. Understanding the processes of defective granulopoiesis downstream of CN-associated gene mutations sheds light on the mechanisms that regulate granulopoiesis and granulocyte functions. Furthermore, given that CN is a pre-leukemia syndrome, studying CN can help to define the role of defective granulopoiesis and deregulated neutrophil functions in leukemogenesis. The development of advanced experimental models of CN and CyN overcomes the limitations of insufficient patient material for research, leading to breakthroughs in the understanding of their pathogenesis and the development of new potential therapies.
Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.
Barth Syndrome (BTHS) is a debilitating X-linked genetic disorder caused by mutations in the gene encoding TAFAZZIN, an enzyme responsible for the remodeling of cardiolipin. While cyclic neutropenia is a well-recognized immunological feature of this disease, emerging evidence suggests that lymphopenia may also occur. The objective of this study was to examine the effects of cannabidiol (CBD) on growth, cardiolipin content, and mitochondrial abnormalities in BTHS patient-derived B-lymphoblastoid cells. CBD (1 μM) restored the growth of BTHS B-lymphoblastoids to healthy control levels, but did not alter cell cycle distribution or sub-G1 cell populations, which surprisingly also did not differ from healthy control B-lymphoblastoids. CBD treatment also fully restored the total cellular cardiolipin concentration and reversed the elevation in monolysocardiolipin/cardiolipin ratio in BTHS B-lymphoblastoids to healthy cell levels, but did not restore the cardiolipin fatty acyl composition. Assessment of mitochondrial markers suggested that increased cardiolipin did not result from increased mitochondrial content. This improvement in cardiolipin concentration was associated with a significant increase in the maximal coupled state III respiration of BTHS B-lymphoblastoids, with all five tested BTHS donors exhibiting increased mitochondrial membrane potential following CBD treatment. CBD fully reversed the deficit in succinate dehydrogenase subunit A in BTHS cells, and partially reversed deficits in cytochrome c oxidase subunits I and IV, and partially restored supercomplex I/III2 levels, but did not rescue I/III2/IV levels. This work suggested a potential role for CBD as a therapeutic in BTHS B-lymphopenia that merits further investigation.
Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
This article presents 2 exceptionally rare cases of familial cyclic neutropenia (CN), along with a comprehensive review of the relevant literature. It further explores the clinical manifestations, laboratory examination characteristics, diagnostic approaches, and treatment strategies, as well as prognosis associated with CN. The aim of this paper is to enhance clinicians' awareness of these rare diseases, thereby facilitating early diagnosis and appropriate management. Case 1: a 47-year-old female who had suffered from bacillary dysentery, recurrent rectal abscess, anal fistula, gingivitis, and periodontitis from the age of 28, otherwise she had suffered from upper respiratory tract infection twice or 3 times every year with neutrophil count nadir of 0.18 × 109/L. Exome sequencing of blood of the woman and her family revealed this woman and her 7 years old daughter had the same c.416C > T(p.P139L) heterozygous mutation in the ELANE gene. Case 2: this patient was the daughter of case 1. The patient developed bronchial infection from the age of 2, and the blood routine showed the neutrophils were abnormally low. In addition, repeated cough, sputum and fever occurred during the year, and neut decreased in 7 of the 11 routine blood tests. The result of exome sequencing of blood revealed that she had the same c.416C > T(p.P139L) heterozygous mutation in the ELANE gene. The 2 patients were diagnosed with familial CN. Intermittent Chinese medicine, pidotimod, mannanopeptide treatment, and symptomatic treatment. A rare case of familial transmission involving 2 instances of mother-daughter pairs. Blood exome sequencing revealed that both pairs harbored the identical heterozygous mutation c.416C > T(p.P139L) in the ELANE gene, leading to a definitive diagnosis of familial CN caused by this ELANE gene mutation. At present, the patients' conditions are improved and the outpatient clinic is followed up regularly. If the patient presents with recurrent infections, fever, and other periodic symptoms annually, accompanied by neutropenia as indicated by a complete blood count, CN should be considered as a potential diagnosis. Genetic testing is imperative to ascertain the presence of any gene mutations for an accurate diagnosis. Cyclic neutropenia can be diagnosed based on the patient's clinical manifestations, laboratory tests, and genetic testing results.
Targeted inhibition of ELANE expression using adenine base editing to treat severe congenital neutropenia.
Autosomal dominant mutations in ELANE (elastase, neutrophil expressed) cause severe congenital neutropenia (CN) and cyclic neutropenia (CyN). Inhibiting ELANE expression, either by CRISPR-Cas9-mediated ELANE knockout or promoter targeting using CRISPR-Cas9 nickase, has emerged as a promising gene therapy strategy to restore defective granulocytic differentiation of transplantable hematopoietic stem cells from CN patients. We developed an adenine base editor (ABE)-mediated approach targeting two nucleotides in the ELANE promoter to suppress neutrophil elastase expression, called PRECISE. Analysis of mRNA- and protein-based delivery of ABE revealed that although both platforms were effective in editing hematopoietic stem and progenitor cells from healthy donors with over 80% editing, only protein-based ABE delivery achieved over 68% editing in CN patient cells. Interestingly, 10%-19% editing in CN patients' hematopoietic cells using ABE mRNA restored their granulocytic differentiation in vitro, with a marked expansion and differentiation of ABE ribonucleoprotein (RNP)-edited cells. PRECISE-edited neutrophils retained normal function, including neutrophil extracellular trap formation, oxidative burst, and phagocytosis. Genome integrity analysis showed no genomic alterations or chromosomal aberrations, and only two off-target edits confined to non-coding intronic regions. In conclusion, PRECISE represents a translationally relevant base-editing strategy for ELANE-associated CN and CyN that addresses ELANE mutation heterogeneity.
Neutropenia: Evaluation and Management in the Primary Care Setting.
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.
Publicações recentes
Metagenome and Metabolic Pathways in Plaque Biofilms of Thai ELANE-Associated Neutropenic Patients: An Original Study and Scoping Review.
Inherited disorders of granulopoiesis: understanding pathogenesis to advance new therapies.
Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.
Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
Neutropenia: Evaluation and Management in the Primary Care Setting.
📚 EuropePMC292 artigos no totalmostrando 91
Inherited disorders of granulopoiesis - understanding pathogenesis to advance new therapies.
Experimental hematologyEffects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyTwo rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
MedicineNeutropenia: Evaluation and Management in the Primary Care Setting.
American family physicianTargeted inhibition of ELANE expression using adenine base editing to treat severe congenital neutropenia.
Molecular therapy. Methods & clinical development[Respiratory manifestations associated with cyclic neutropenia and innate immune deficiency (IgG3 deficiency): a case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report.
Molecular genetics and metabolismCase Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia.
Frontiers in immunologySpontaneous Osteonecrosis of the Jaw in the Presence of Periodontal Disease in an Adolescent with Cyclic Neutropenia.
Journal of dentistry for children (Chicago, Ill.)Cyclic neutropenia: a case report and literature review.
American journal of translational researchEvaluation of Neutrophil Elastase Inhibitors as Potential Therapies for ELANE Associated Neutropenia.
Journal of cellular immunologyExploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunologic researchCase report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.
Frontiers in immunologyConvergent Synthesis, Kinetics, and Computational Studies of Indole(Phenyl)Triazole Bi-Heterocycles Modified With Propanamides as Elastase Inhibitors.
Chemistry & biodiversityThe Bloody Crossroads: Interactions between Periodontitis and Hematologic Diseases.
International journal of molecular sciencesClinical findings, treatment and outcome of trapped neutrophil syndrome in Border Collies: 12 cases (2011-2022).
The Journal of small animal practiceGenetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
European journal of haematologyDiscerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
Journal of clinical pathologyImpact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Blood advancesNovel ELANE Mutation Associated with a Clinical Presentation of Cyclic Neutropenia.
Journal of the Association of Genetic TechnologistsExploring the Impact of Blood Disorders on Dental Caries.
CureusScreening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.
BMC pediatricsCongenital neutropenia: From lab bench to clinic bedside and back.
Mutation research. Reviews in mutation researchDifferential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations.
HaematologicaCyclic Neutropenia Mimicking Crohn's Disease: Two Case Reports and a Narrative Review.
Journal of clinical medicineCase Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.
Frontiers in immunologyA distinct case of an 8-year-old female with cyclic neutropenia presenting with C. septicum abdominal sepsis and myonecrosis requiring a bowel resection and leg fasciotomy.
Journal of surgical case reportsHormonal-Receptors-Positive and HER2-Negative Patients with Metastatic Breast Cancer Treated with First-Line Palbociclib and Hormonal Therapy: Impact of First-Cycle Neutropenia and Dose Reduction on Therapeutic Outcome.
The breast journalSingle Cell Transcriptomic Analysis in a Mouse Model of Barth Syndrome Reveals Cell-Specific Alterations in Gene Expression and Intercellular Communication.
International journal of molecular sciencesCyclic neutropenia and concomitant IgA nephropathy: a case report.
BMC nephrologyPaediatric autoimmune diseases with ELANE mutations associated with neutropenia.
Pediatric rheumatology online journal[Neutrophil elastase gene mutation-induced cyclic neutropenia: a case report].
Zhonghua nei ke za zhiA high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.
Pediatric blood & cancerCase report: Five-year periodontal management of a patient with two novel mutation sites in ELANE-induced cyclic neutropenia.
Frontiers in geneticsCase Report: Association between cyclic neutropenia and SRP54 deficiency.
Frontiers in immunologyELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry.
Pediatric blood & cancerCyclic hematopoiesis in a mixed-breed dog: case report and brief review.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncHuman chorion-derived mesenchymal stem cells suppress JAK2/STAT3 signaling and induce apoptosis of cholangiocarcinoma cell lines.
Scientific reportsIn Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.
TheScientificWorldJournalPremature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
International journal of environmental research and public healthAssessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management.
Mediterranean journal of hematology and infectious diseasesElamipretide for Barth syndrome cardiomyopathy: gradual rebuilding of a failed power grid.
Heart failure reviewsRecurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study.
British journal of haematologyA Case of Cyclic Neutropenia and Associated Amyloidosis.
Journal of pediatric hematology/oncologyPediatric coronavirus (COVID-19) death in a child with cyclic neutropenia.
Pediatric blood & cancerNeutrophil Elastase Defects in Congenital Neutropenia.
Frontiers in immunologyA Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.
Journal of pediatric hematology/oncologyRecurrent Periorbital Cellulitis Secondary to Cyclic Neutropenia.
Journal of current ophthalmologyManagement of acute cholecystitis in patient with cyclic neutropenia: a case report.
Surgical case reportsNicotinamide (vitamin B3) treatment improves response to G-CSF in severe congenital neutropenia patients.
British journal of haematologyNeutropenic Enterocolitis Disclosing an Underlying Cyclic Neutropenia.
Case reports in pediatricsPeriodic hematological disorders: Quintessential examples of dynamical diseases.
Chaos (Woodbury, N.Y.)The Natural Polypeptides as Significant Elastase Inhibitors.
Frontiers in pharmacology[Cyclic neutropenia: a case report].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyNew insights into the pathomechanism of cyclic neutropenia.
Annals of the New York Academy of SciencesCyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.
Journal of pediatric hematology/oncologyManagement of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.
MedicineOscillations in a white blood cell production model with multiple differentiation stages.
Journal of mathematical biologyOntological and Non-Ontological Resources for Associating Medical Dictionary for Regulatory Activities Terms to SNOMED Clinical Terms With Semantic Properties.
Frontiers in pharmacologyJuvenile ecthyma gangrenosum caused by Pseudomonas aeruginosa revealing an underlying neutropenia: case report and review of the literature.
Journal of the European Academy of Dermatology and Venereology : JEADVOrigins of oscillation patterns in cyclical thrombocytopenia.
Journal of theoretical biologyCyclic manner of neutropenia in a patient with HAX-1 mutation.
Pediatric hematology and oncologyInfluence of UGT1A1 polymorphism on etoposide plus platinum-induced neutropenia in Japanese patients with small-cell lung cancer.
International journal of clinical oncology[Reference guide for adult chronic neutropenia].
[Rinsho ketsueki] The Japanese journal of clinical hematologyAcquired cyclic neutropenia associated with cocaine-induced anti-neutrophil cytoplasmic antibodies binding to human neutrophil elastase.
American journal of hematologyCyclic thrombocytopenia with statistically significant neutrophil oscillations.
Clinical case reports[A case report of cyclic neutropenia caused by novel double ELANE gene mutations].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.
MedicineLong-Term Effects of G-CSF Therapy in Cyclic Neutropenia.
The New England journal of medicine[Cyclic neutropenia: a case report and literatures review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiIdentification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome.
Journal of molecular and cellular cardiologyElastase inhibitors as potential therapies for ELANE-associated neutropenia.
Journal of leukocyte biologyA novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.
Balkan journal of medical genetics : BJMGSurgical treatment of acute abdominal complications in hematology patients: outcomes and prognostic factors.
Leukemia & lymphomaAllogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events.
Case reports in hematologyCharacterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.
PloS oneMarshall syndrome in a young child, a reality: Case report.
MedicineSevere congenital cyclic neutropenia: A case report.
International journal of applied & basic medical researchGiant Cell Arteritis which Developed after the Administration of Granulocyte-colony Stimulating Factor for Cyclic Neutropenia.
Internal medicine (Tokyo, Japan)Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.
Annals of the New York Academy of SciencesPrimary immunodeficiencies associated with eosinophilia.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyTwo cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML.
BloodA Review on Noma: A Recent Update.
Global journal of health scienceELANE mutant-specific activation of different UPR pathways in congenital neutropenia.
British journal of haematologyClericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.
Iranian journal of allergy, asthma, and immunologyAppendectomy in a child with cyclic neutropenia in profound neutropenic episode.
Therapeutics and clinical risk managementFull-Arch Rehabilitation of a Patient With Cyclic Neutropenia.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsMosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.
Journal of clinical immunologyCyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: case report.
BMC pediatricsPeriodic Fever: a review on clinical, management and guideline for Iranian patients - part I.
Iranian journal of pediatricsA novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.
Annals of human geneticsAssociações
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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.
- Inherited disorders of granulopoiesis - understanding pathogenesis to advance new therapies.
- Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology· 2026· PMID 41823370mais citado
- Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
- Targeted inhibition of ELANE expression using adenine base editing to treat severe congenital neutropenia.
- Neutropenia: Evaluation and Management in the Primary Care Setting.
- Metagenome and Metabolic Pathways in Plaque Biofilms of Thai ELANE-Associated Neutropenic Patients: An Original Study and Scoping Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2686(Orphanet)
- OMIM OMIM:162800(OMIM)
- MONDO:0008090(MONDO)
- GARD:6229(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q5198214(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.
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