É um caso de linfo-histiocitose hemofagocítica (LHH) causado por uma alteração genética que a pessoa herdou.
Introdução
O que você precisa saber de cara
A linfohistiocitose hemofagocítica familiar é uma doença genética rara herdada que costuma se manifestar na infância ou na adolescência. Ela provoca episódios de febre periódica, sangramentos anormais, inflamação no fígado e maior risco de infecções recorrentes. O quadro decorre de alterações em genes específicos e necessita de acompanhamento hematológico e imunológico atento. Embora a condição não possua PCDT oficial no Ministério da Saúde, os pacientes buscam atendimento pela rede de média e alta complexidade do SUS.
É um caso de linfo-histiocitose hemofagocítica (LHH) causado por uma alteração genética que a pessoa herdou.
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
+ 91 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 204 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
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Curadoria gene-doença
fontes oficiaisHemophagocytic lymphohistiocytosis, familial, 3
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Hermansky-Pudlak syndrome 2
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.
Immune dysregulation and systemic hyperinflammation syndrome
An autosomal recessive disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines.
Griscelli syndrome 2
Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.
Chediak-Higashi syndrome
A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).
Hermansky-Pudlak syndrome 9
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Hemophagocytic lymphohistiocytosis, familial, 4
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Hemophagocytic lymphohistiocytosis, familial, 2
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
A rare, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease.
Variantes genéticas (ClinVar)
1.180 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3.851 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
18 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 — Linfohistiocitose hemofagocítica familiar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 13 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
17 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
100 ensaios clínicos encontrados, 35 ativos.
Publicações mais relevantes
Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.
STEAP3 (Six-transmembrane epithelial antigen of the prostate 3), a metalloreductase, plays a key role in various cell processes, including iron homeostasis, inflammation, and cancer promotion. Over a decade ago, researchers reported a single, heterozygous nonsense variant in STEAP3 linked to transfusion-dependent severe hypochromic anemia. However, a later large population study on STEAP3 found no phenotypic red cell changes in heterozygous individuals. While the genotype and phenotype of STEAP3 are tentatively established for hypochromic microcytic anemia with autosomal dominant inheritance (MIM: 615234), we describe an autosomal recessive form of STEAP3-related neonatal familial hemophagocytic lymphohistiocytosis (HLH). We expanded the phenotype to include cytopenia and neonatal HLH. Our report on two affected male siblings highlights the expanded phenotype, clarifies the phenotypic spectrum of STEAP3, and broadens its genetic inheritance, ultimately providing a clinical and molecular workup for neonatal patients with unexplained HLH.
Peripheral T-cell lymphoma in adult-onset familial hemophagocytic lymphohistiocytosis type 2 and heterozygous LRBA mutation.
Not available.
A Case of a Novel Perforin Gene Variant in Severe Familial Hemophagocytic Lymphohistiocytosis Type 2 (FHL2).
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by excessive cytokine release from activated T cells and macrophages. Primary HLH, or familial HLH (FHL), results from genetic mutations affecting cytotoxic lymphocyte function. We present a case of FHL Type 2 (FHL2) caused by compound heterozygous variants in the PRF1 gene, including one novel missense variant of p.Ala21Val (A21V). A 5-month-old boy presented with persistent fever, pancytopenia, coagulopathy, hepatosplenomegaly, and elevated ferritin, meeting the HLH-2004 diagnostic criteria. Bone marrow revealed hemophagocytosis, and NK cell activity was markedly reduced. Genetic analysis identified compound heterozygous PRF1 variants: A21V and p.Pro16Ser (P16S). Flow cytometric analysis demonstrated markedly reduced PRF1 protein expression in the patient's NK cells. The patient was treated with etoposide, dexamethasone palmitate, and cyclosporine, followed by cord blood transplantation. The patient has been in remission for over a year. The PRF1 A21V variant has not been described in the public database or the literature and is therefore considered a novel pathogenic variant for FHL2 with functional validation. Although the PRF1 P16S variant has been previously reported in the heterozygous state in an adult patient with primary HLH, our findings provide functional and clinical evidence supporting a contributory role of the P16S variant in autosomal recessive early-onset FHL2 when present in trans with the novel A21V variant. We identified a previously unreported PRF1 variant, A21V, and provided the first functional evidence of impaired perforin expression associated with A21V/P16S, highlighting the importance of functional validation of rare PRF1 variants in FHL2.
Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome is a central nervous system (CNS) inflammatory disease characterized by contrast-enhanced MRI findings of salt-and-pepper-like lesions predominantly affecting the brainstem and cerebellum. We report two patients with CLIPPERS-like brain MRI findings who carried the same missense UNC13D variant in one allele along with deleterious variants in the opposite allele. Patient 1, a 23-year-old female, presented at 15 years of age with neurological symptoms and an MRI showing spontaneously resolving, contrast-enhancing lesions in the cerebellum. At age 16, the patient experienced an episode with systemic manifestations followed by recurrent CNS lesions that responded to steroid therapy. At age 22, the patient developed punctate to nodular contrast-enhancing lesions in the brainstem, cerebellum, and cerebrum, findings consistent with CLIPPERS. Patient 2, an 18-year-old female, presented at age 11 with ataxia and dysarthria, and an MRI showing multiple contrast-enhancing lesions in the cerebellum and brainstem, consistent with CLIPPERS MRI findings. Cerebellar biopsy revealed perivascular CD4+ T-lymphocyte infiltration, and the patient responded to steroid therapy, leading to an initial diagnosis of CLIPPERS. These patients were suspected of having inborn errors of immunity and were identified to have compound heterozygous UNC13D variants along with downregulated Munc13-4 protein. Both patients underwent allogeneic hematopoietic cell transplantation, with patient 1 remaining neurologically stable for two years post-transplantation, while patient 2 experienced a post-transplant relapse requiring steroid therapy. These cases highlight that biallelic variants in the UNC13D gene may cause CNS-predominant inflammation that mimics CLIPPERS. [Image: see text] The online version contains supplementary material available at 10.1007/s10875-026-01988-1.
Spectrum of Primary Immune Regulatory Disorders in Children in a Highly Consanguineous Population: Report from a National Registry.
Primary Immune Regulatory Disorders (PIRDs) are caused by genetic defects resulting in diverse clinical manifestations. We aimed to present the spectrum of PIRDs in children in Kuwait. The data was obtained from the Kuwait National Primary Immunodeficiency Disorders Registry (KNPIDR), and the patients were followed prospectively. 59 patients with PIRDs, constituting 14% of all patients registered in the KNPIDR, were included in this study. Most of the patients belonged to familial hemophagocytic lymphohistiocytosis syndromes (42.4%), followed by regulatory T cell defects subcategories (15.3%). The median ages at the onset of symptoms and diagnosis were 4 and 18 months, respectively. Parental consanguinity was documented in 88.1% of cases while family history of PIRDs in 45.7%. The most common clinical features were lymphoproliferation, hematologic manifestations, and infections, affecting 71.2%, 67.8%, and 47.5%, respectively. Genetic diagnosis was reached in 84.9% of the tested patients and the most common genes affected were STXBP2 followed by PRF1 and LYST. Most patients (88.8%) had autosomal recessive disease. 35.6% of the patients underwent hematopoietic stem cell transplantation and a similar percentage received immunosuppressive and/or immunomodulating therapies. There was a total of 21 deaths (35.6%) with a median age at death of 36 months while the median time from diagnosis to death was 5 months. PIRDs are heterogenous group of disorders with complex disease phenotypes. Genetic testing should be done as soon as possible when these diseases are suspected since early diagnosis is crucial for proper therapeutic interventions.
Publicações recentes
Peripheral T-cell lymphoma in adult-onset familial hemophagocytic lymphohistiocytosis type 2 and heterozygous LRBA mutation.
A Case of a Novel Perforin Gene Variant in Severe Familial Hemophagocytic Lymphohistiocytosis Type 2 (FHL2).
🥇 Revisão sistemáticaTwo Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Spectrum of Primary Immune Regulatory Disorders in Children in a Highly Consanguineous Population: Report from a National Registry.
Successful reduced-intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2.
📚 EuropePMC318 artigos no totalmostrando 193
Peripheral T-cell lymphoma in adult-onset familial hemophagocytic lymphohistiocytosis type 2 and heterozygous LRBA mutation.
HaematologicaA Case of a Novel Perforin Gene Variant in Severe Familial Hemophagocytic Lymphohistiocytosis Type 2 (FHL2).
Case reports in hematologyTwo Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Journal of clinical immunologySpectrum of Primary Immune Regulatory Disorders in Children in a Highly Consanguineous Population: Report from a National Registry.
Journal of clinical immunologySuccessful reduced-intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2.
International journal of hematologySevere COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous PRF1 Variant.
Case reports in immunologyBiallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.
Clinical geneticsFamilial hemophagocytic lymphohistiocytosis type 2 mimicking CLIPPERS syndrome.
Medicina clinicaFalse-negative CMV PCR results due to viral sequence variation: a diagnostic pitfall with the potential for serious consequences.
ASM case reportsNeonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations.
Frontiers in geneticsCongenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
NeonatologyProfound hematologic instability in consanguinity-associated familial hemophagocytic lymphohistiocytosis: a pediatric case report.
Annals of medicine and surgery (2012)Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
CancersAdult Onset of Type 2 Familial Hemophagocytic Lymphohistiocytosis After SARS-CoV-2 Vaccination with an Unusual Neurological Onset: The Great Mimic.
Diagnostics (Basel, Switzerland)Clinical and neuroimaging features of familial hemophagocytic lymphohistiocytosis.
Pediatric radiologyRubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.
Immunologic researchIsolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.
Journal of inflammation researchLate effects after hematopoietic stem cell transplantation in patients with HLH: A Histiocyte Society, PDWP, IEWP, and TCWP EBMT Study.
The Journal of allergy and clinical immunologyMortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis.
Mutation research. Reviews in mutation researchLate-onset hemophagocytic lymphohistiocytosis associated with monoallelic STX11 mutation in an adult: a case report and rationale for early allogeneic hematopoietic cell transplantation.
Annals of hematologyUNC13D c.2588G>A Nucleotide Variant Impairs NK-Cell Cytotoxicity in Adult-Onset EBV-Associated Hemophagocytic Lymphohistiocytosis: A Pedigree Study.
International journal of molecular sciencesCase Report: FAS spontaneous mutation in a familial hemophagocytic lymphohistiocytosis patient with a complex heterozygous mutation in PRF1.
Frontiers in immunologyClinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.
Frontiers in immunologyMolecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.
International journal of biological macromoleculesOcular inflammation as the first presenting feature of PRF1-associated familial hemophagocytic lymphohistiocytosis, case report and review of literature.
BMC ophthalmologyClinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.
Journal of clinical immunologyGenetics of Familial Hemophagocytic Lymphohistiocytosis (HLH).
Hematology/oncology clinics of North AmericaClinical Characteristics and Treatment of Familial Hemophagocytic Lymphohistiocytosis.
Hematology/oncology clinics of North AmericaBeyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
BloodT and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.
HeliyonInvestigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets.
European journal of human genetics : EJHGAggressive T-cell Lymphoma Smoldering As Hemophagocytic Lymphohistiocytosis: A Diagnostic and Medical Challenge.
CureusFunctional role of UNC13D in immune diseases and its therapeutic applications.
Frontiers in immunologySerum cytokine panels in pediatric clinical practice.
The Journal of allergy and clinical immunologyTeaching NeuroImage: Brain Biopsy Confirmed Familial Hemophagocytic Lymphohistiocytosis Masquerading as Demyelination.
NeurologyEtoposide Therapy of Cytokine Storm Syndromes.
Advances in experimental medicine and biologyFlow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.
Frontiers in immunologyDiagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.
BloodFamilial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.
Journal of pediatric hematology/oncologyEnrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Arthritis & rheumatology (Hoboken, N.J.)Allogeneic hematopoietic stem cell transplant for familial hemophagocytic lymphohistiocytosis: a case report and literature review.
Frontiers in immunologySuccessful Second CBT for Graft Failure After First CBT for Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Type 3: A Case Report.
Transplantation proceedingsGenetic background of primary and familial HLH in Qatar: registry data and population study.
Frontiers in pediatricsFamilial Hemophagocytic Lymphohistiocytosis in a Premature Low Birth Weight Infant: a Rare Case Report.
Clinical laboratoryAtypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyPatients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
The Journal of experimental medicineLate-onset Familial Hemophagocytic Lymphohistiocytosis in a survivor of Hodgkin's Lymphoma.
Leukemia research reportsCorrigendum: HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.
Frontiers in immunologyFamilial Hemophagocytic Lymphohistiocytosis (FHLH) Perforin Deficiency: A Case Study and Literature Review.
CureusEarly hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
International journal of hematologyHLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.
Frontiers in immunologyGermline defects of familial hemophagocytic lymphohistiocytosis-related genes presenting as adult-onset peripheral T-cell lymphoma.
Frontiers in immunologyFamilial hemophagocytic lymphohistiocytosis: from macrophage activation syndrome to CLIPPERS.
Journal of neurologyFamilial Hemophagocytic Lymphohistiocytosis Due to PRF1 Mutation Triggered by Enterovirus.
Clinical pediatricsUncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
Cellular and molecular gastroenterology and hepatologyPrecise CRISPR-Cas9 gene repair in autologous memory T cells to treat familial hemophagocytic lymphohistiocytosis.
Science immunologyDetection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.
BMC pediatricsRole of the UNC13 family in human diseases: A literature review.
AIMS neuroscienceFamilial Hemophagocytic Lymphohistiocytosis Type 2 Presenting With Isolated Facial Palsy.
Journal of pediatric hematology/oncologyCase Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Frontiers in immunologyA Case of Fetal Familial Hemophagocytic Lymphohistiocytosis Type 5 caused by STXBP2 Gene Mutation.
Clinical laboratoryRepeated pulmonary nodules as the primary symptom of familial hemophagocytic lymphohistiocytosis in adults: a case report and review.
The Journal of international medical researchGene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis.
The Journal of allergy and clinical immunologyThe opposing effects of two gene defects in STX11 and SLP76 on the disease in a patient with an inborn error of immunity.
The Journal of allergy and clinical immunologySeverity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyApproaching hemophagocytic lymphohistiocytosis.
Frontiers in immunologyFirst case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Annals of clinical biochemistryPresentations and outcomes of familial hemophagocytic lymphohistiocytosis in the pediatric intensive care units (PICUs).
Frontiers in pediatricsThe Multifaceted Immunology of Cytokine Storm Syndrome.
Journal of immunology (Baltimore, Md. : 1950)Brain MRI Findings of Hemophagocytic Lymphohistiocytosis With a Heterozygous PRF1 Gene Mutation Masquerading As CLIPPERS: A Case Report.
CureusInsights into the cellular pathophysiology of familial hemophagocytic lymphohistiocytosis.
Frontiers in immunology[Analysis of genetic variants in a patient with Familial hemophagocytic lymphohistiocytosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIsolated Sixth Nerve Palsies in a Child With Familial Hemophagocytic Lymphohistiocytosis Type 2.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyTraffic jam within lymphocytes: A clinician's perspective.
Frontiers in immunology[Perforin gene mutation in middle-age onset hemophagocytic lymphohistiocytosis].
[Rinsho ketsueki] The Japanese journal of clinical hematologyGranulomatous inflammation and hypogammaglobulinemia: Clinical conundrum of familial hemophagocytic lymphohistiocytosis type 5.
ImmunobiologyCase report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis.
Frontiers in pediatricsEpstein-Barr virus-positive diffuse large B-cell lymphoma onset as familial hemophagocytic lymphohistiocytosis in an infant.
Pediatric blood & cancerCase report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3.
Frontiers in immunologyMonogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy.
Clinical immunology (Orlando, Fla.)Misdiagnosis of adult primary hemophagocytic lymphohistiocytosis as NK/T-cell lymphoma: A case report.
EJHaemCarrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Frontiers in pediatricsFamilial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.
BMC pediatricsHemophagocytic lymphohistiocytosis as an etiology of bone marrow failure.
Frontiers in oncologyChild Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation.
NeurologyAdult-Onset Familial Hemophagocytic Lymphohistiocytosis Presenting with Annular Erythema following COVID-19 Vaccination.
VaccinesUNC13D inhibits STING signaling by attenuating its oligomerization on the endoplasmic reticulum.
EMBO reportsPore-forming proteins and their role in cancer and inflammation: Mechanistic insights and plausible druggable targets.
Chemico-biological interactionsRecurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3.
Clinical immunology (Orlando, Fla.)Combined IFN-γ and JAK inhibition to treat hemophagocytic lymphohistiocytosis in mice.
The Journal of allergy and clinical immunology[Evaluation of CD107a and perforin expression detection in the diagnosis of primary hemophagocytic lymphohistiocytosis].
Zhonghua yi xue za zhiHigh Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy.
The Journal of pediatricsNeonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole-genome sequencing.
Pediatric blood & cancer[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFamilial hemophagocytic lymphohistiocytosis hepatitis is mediated by IFN-γ in a predominantly hepatic-intrinsic manner.
PloS oneHemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome.
The Journal of rheumatologyInborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Frontiers in pediatricsFamilial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
International journal of hematologyFamilial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyFamilial hemophagocytic lymphohistiocytosis onset as central diabetes insipidus in a child.
Pediatric blood & cancerFamilial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Journal of pediatric hematology/oncologyProgressive lymphocytosis in familial hemophagocytic lymphohistiocytosis with lymphocytic interstitial pneumonia: a case report.
Journal of hematopathologyNeonatal COVID and Familial Hemophagocytic Lymphohistiocytosis.
Pediatric emergency careA Rare STXBP2 Mutation in Severe COVID-19 and Secondary Cytokine Storm Syndrome.
Life (Basel, Switzerland)Neuroinflammation Associated With Inborn Errors of Immunity.
Frontiers in immunologyUsing a Minimal Parameter Set for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Non-European Children.
The American journal of case reportsCovid-19 in a patient with Familial Hemophagocytic Lymphohistiocytosis in children.
The Turkish journal of pediatricsFamilial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation.
Case reports in hematologyFamilial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.
MedicineRF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Pharmacogenomics and personalized medicineIsolated central nervous system familial hemophagocytic lymphohistiocytosis (fHLH) presenting as a mimic of demyelination in children.
Multiple sclerosis (Houndmills, Basingstoke, England)Familial hemophagocytic lymphohistiocytosis: an entity leading to early death.
Annales de biologie cliniqueCase Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.
Frontiers in immunologyConsensus-Based Guidelines for the Recognition, Diagnosis, and Management of Hemophagocytic Lymphohistiocytosis in Critically Ill Children and Adults.
Critical care medicineNBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Journal of clinical immunologyFamilial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
World journal of clinical casesGermline Compound Heterozygous Variants Identified in the STXBP2 Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report.
Frontiers in pediatrics[Sucecesfull bone marrow transplantation in a case of familial hemophagocytic lymphohistiocytosis type 3].
Andes pediatrica : revista Chilena de pediatriaGenetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.
Blood researchExploring the Intersection of Isolated-CNS Hemophagocytic Lymphohistiocytosis and Pediatric Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids.
Journal of child neurologyMultiple-Organ Involvement in Familial Hemophagocytic Lymphohistiocytosis Type 2 Shown on FDG PET/CT.
Clinical nuclear medicineAdult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report.
World journal of clinical casesA case of fetal-onset type 3 familial hemophagocytic lymphohistiocytosis surviving without severe complications after early diagnosis and treatment.
Pediatric blood & cancerThe Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
Frontiers in immunologySuccessful management of familial hemophagocytic lymphohistiocytosis by the JAK 1/2 inhibitor ruxolitinib.
Pediatric blood & cancerHemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome.
Neurology(R) neuroimmunology & neuroinflammationFamilial hemophagocytic lymphohistiocytosis induced by SARS-CoV-2.
Pediatric hematology and oncologyExome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis.
BMC medical genomicsSystemic and Nodular Hyperinflammation in a Patient with Refractory Familial Hemophagocytic Lymphohistiocytosis 2.
Journal of clinical immunologyFamilial Mediterranean Fever After Cord Blood Transplantation for Familial Hemophagocytic Lymphohistiocytosis.
Journal of pediatric hematology/oncologyCo-Occurrence of Familial Hemophagocytic Lymphohistiocytosis Type 2 and Chronic Active Epstein-Barr Virus in Adulthood.
The American journal of the medical sciencesPredicting Macrophage Activation Syndrome in Childhood-onset Systemic Lupus Erythematosus Patients at Diagnosis.
The Journal of rheumatologySTXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Frontiers in immunologySNAREs and developmental disorders.
Journal of cellular physiologyA Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis.
Journal of clinical immunologyUnraveling subcutaneous panniculitis-like T-cell lymphoma: An association between subcutaneous panniculitis-like T-cell lymphoma, autoimmune lymphoproliferative syndrome, and familial hemophagocytic lymphohistiocytosis.
Journal of cutaneous pathologyClinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyFamilial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.
Clinical laboratory[Clinical study of haploidentical hematopoietic stem cell transplantation on 15 cases of adult-onset primary hemophagocytic lymphohistiocytosis].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiNeuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Journal of clinical immunologyAlternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.
Frontiers in immunologyPrenatal diagnosis of familial hemophagocytic lymphohistiocytosis: morphological findings in the product of conception.
Annals of hematologyTrigger-dependent differences determine therapeutic outcome in murine primary hemophagocytic lymphohistiocytosis.
European journal of immunologyFamilial Hemophagocytic Lymphohistiocytosis Type 3.
Indian journal of pediatricsUNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhiNeurological symptoms of familial hemophagocytic lymphohistiocytosis type 2.
Journal of integrative neuroscienceLentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.
Human gene therapyNeurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients.
Frontiers in geneticsT Cell Depleted Haploidentical Hematopoietic Stem Cell Transplantation for Patients with Familial Hemophagocytic Lymphohistiocytosis Who Do Not Have Matched Family Donors: Experience in Oman.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationFHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Frontiers in immunology[Analysis of Human Herpes Viruses-Activated Infection Spectra in Patients with Various Immunodeficiencies].
Zhongguo shi yan xue ye xue za zhiFlow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Allergy, asthma & immunology researchFamilial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19.
Journal of pediatric geneticsMolecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
International journal of hematologyType 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation.
CureusThree Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
Journal of pediatric hematology/oncologyFamilial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11: A case report.
MedicineSuccessful remission induction in refractory familial hemophagocytic lymphohistiocytosis with ruxolitinib as a bridge to hematopoietic stem cell transplantation.
Pediatric blood & cancerFamilial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2.
MedicineDifferent Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Journal of pediatric hematology/oncologyA human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Nature communicationsFlow Cytometry for Diagnosis of Primary Immune Deficiencies-A Tertiary Center Experience From North India.
Frontiers in immunologyCytotoxic Granule Exocytosis From Human Cytotoxic T Lymphocytes Is Mediated by VAMP7.
Frontiers in immunologyFatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid.
Autopsy & case reportsGenetic Deficiency of Interferon-γ Reveals Interferon-γ-Independent Manifestations of Murine Hemophagocytic Lymphohistiocytosis.
Arthritis & rheumatology (Hoboken, N.J.)To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.
Journal of pediatric hematology/oncologySTX11-deficient familial hemophagocytic lymphohistiocytosis type 4 is associated with self-resolving flares and a milder clinical course.
Pediatric blood & cancerDisturbances in NK Cells in Various Types of Hemophagocytic Lymphohistiocytosis in a Population of Polish Children.
Journal of pediatric hematology/oncology[Analysis of PRF1gene variant in a child with late-onset familial hemophagocytic lymphohistiocytosis type 2 and severe central nervous system disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPediatric CNS-isolated hemophagocytic lymphohistiocytosis.
Neurology(R) neuroimmunology & neuroinflammationRetroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro.
Human gene therapyNatural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients.
Frontiers in immunologyCross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.
AutophagyPlcγ2/Tmem178 dependent pathway in myeloid cells modulates the pathogenesis of cytokine storm syndrome.
Journal of autoimmunityCentral nervous system-restricted familial hemophagocytic lymphohistiocytosis responds to hematopoietic cell transplantation.
Blood advancesDeficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Biochimica et biophysica acta. Molecular basis of diseaseHaploidentical hematopoietic stem cell transplantation using reduced-intensity conditioning for pediatric patients with familial hemophagocytic lymphohistiocytosis.
Pediatric investigationNeurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis: Report of Two Families.
Chinese medical journalCytologic Analysis of Epstein-Barr Virus-Associated T/Natural Killer-Cell Lymphoproliferative Diseases.
Frontiers in pediatricsDisruption of IL-33 Signaling Limits Early CD8+ T Cell Effector Function Leading to Exhaustion in Murine Hemophagocytic Lymphohistiocytosis.
Frontiers in immunologyLiver-associated immune abnormalities.
Autoimmunity reviewsDynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.
Cellular and molecular gastroenterology and hepatologyHistopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System.
Journal of neuropathology and experimental neurologyA Case of Recurrent Pregnancy-Induced Adult Onset Familial Hemophagocytic Lymphohistiocytosis.
World journal of oncologyAdult-onset hemophagocytic lymphohistiocytosis type 2 presenting as a demyelinating disease.
Multiple sclerosis and related disordersType 2 familial hemophagocytic lymphohistiocytosis in half brothers: A case report.
MedicineBone marrow derived mesenchymal stem cells ameliorate inflammatory response in an in vitro model of familial hemophagocytic lymphohistiocytosis 2.
Stem cell research & therapyAdults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.
Genes and immunityC2 Domains of Munc13-4 Are Crucial for Ca2+-Dependent Degranulation and Cytotoxicity in NK Cells.
Journal of immunology (Baltimore, Md. : 1950)Systemic juvenile idiopathic arthritis and macrophage activation syndrome: update on pathogenesis and treatment.
Current opinion in rheumatologySynergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report.
GeneCD8 T Cell Memory Increases Immunopathology in the Perforin-Deficient Model of Hemophagocytic Lymphohistiocytosis Secondary to TNF-α.
ImmunoHorizons[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Linfohistiocitose hemofagocítica familiar e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Trata-se de um tipo de linfo-histiocitose hemofagocítica originado por uma mutação genética que a pessoa herdou. Ela apresenta herança autossômica recessiva e início habitual verificado na infância ou adolescência.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Linfohistiocitose hemofagocítica familiar. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/linfohistiocitose-hemofagocitica-familiar
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Linfohistiocitose hemofagocítica familiar
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Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
