Displasia imuno-óssea é uma condição rara que afeta o esqueleto, o sistema imunológico e o trato gastrointestinal, manifestando-se com defeitos ósseos, infecções recorrentes e megacólon agangliônico. Pode apresentar hipoplasia do processo odontoide, astigmatismo e autoimunidade.
Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
No sistema esquelético e no desenvolvimento corporal, podem ser observados achados como condrodisplasia metafisária, anormalidade do sistema esquelético, mesomelia, encurvamento femoral, encurvamento tibial, metacarpo curto, hipoplasia do processo odontoide, fosseta sacral, ponte nasal deprimida, micrognatia, abdome protuberante e retardo do crescimento intrauterino, além de incapacidade de andar.[1][2]
No sistema imunológico e respiratório, os pacientes podem apresentar anormalidade da fisiologia dos linfócitos T, proporção reduzida de células T CD8 virgens, autoimunidade e infecções recorrentes do trato respiratório inferior.[1][2]
Outras manifestações clínicas descritas incluem alterações neurológicas e cardiovasculares como hipoplasia cerebral, hipoplasia do corpo caloso, arteriosclerose de pequenas artérias cerebrais e cardiomiopatia, além de achados oculares e gastrointestinais como astigmatismo, megacólon agangliônico, pancreatite e presença de mácula hiperpigmentada na pele.[1][2]
Causas genéticas
Diagnóstico
Tratamento e manejo
Tratamentos citados na literatura
Na literatura científica biomédica foram mapeadas menções a determinadas substâncias e terapias associadas ao quadro, extraídas por mineração de dados. Estas ocorrências correspondem exclusivamente a citações em artigos científicos e NÃO constituem recomendação médica ou indicação formal de uso: Steroids (3 publicações), Adenosine Triphosphate (1 publicação), Lipids (1 publicação), Poly A (1 publicação), Enalapril (1 publicação), Losartan (1 publicação), Rituximab (1 publicação), Tacrolimus (1 publicação) e eltrombopag (1 publicação).[4]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A displasia imuno-óssea é uma condição rara que compromete conjuntamente o desenvolvimento dos ossos e as defesas do organismo. As pessoas afetadas podem apresentar infecções respiratórias frequentes, alterações nos membros, dificuldades motoras e problemas vasculares. Atualmente, a condição não consta na lista oficial de PCDTs de doenças raras do Ministério da Saúde e não tem remédios específicos catalogados no SUS. O acompanhamento médico é focado no controle dos sintomas que surgem, enquanto pesquisas no exterior investigam novas abordagens.
Displasia imuno-óssea é uma condição rara que afeta o esqueleto, o sistema imunológico e o trato gastrointestinal, manifestando-se com defeitos ósseos, infecções recorrentes e megacólon agangliônico. Pode apresentar hipoplasia do processo odontoide, astigmatismo e autoimunidade.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 115 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 310 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
4 genes identificados com associação a esta condição.
Bone marrow failure syndrome 4
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive.
Immunoskeletal dysplasia with neurodevelopmental abnormalities
An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients.
Schimke immuno-osseous dysplasia
An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.
Variantes genéticas (ClinVar)
556 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1.200 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 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 — Displasia imuno-óssea
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
Publicações mais relevantes
Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.
With the inherent T-cell immunodeficiency of Schimke immune-osseous dysplasia (SIOD), the management of immunosuppressive therapy after transplantation and life-threatening infections remains a challenge. Here, we present a case of a child with SIOD who developed early-onset Epstein-Barr virus (EBV)-associated post-transplant lymphoproliferative disorder (PTLD) after kidney transplantation. PTLD frequently involves the gastrointestinal tract and solid allografts, while this case also involved the lungs, which is extremely rare. This case underscores the importance of considering PTLD in recipients with immunodeficiency, long-term immunosuppressive therapy, and EBV seronegativity. It also suggests low-dose immunotherapy and hematopoietic stem-cell transplantation for patients with SIOD.
Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
Schimke immuno-osseous dysplasia (SIOD) is a hereditary autosomal-recessive multi-system disorder with early mortality. It has variable clinical presentations, mainly characterised by disproportional short stature, steroid-resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency. In the majority of cases, SIOD is caused by pathogenic sequence variants (PSVs) in the SMARCAL1 gene that encodes protein involved in chromatin remodelling. SIOD is an ultra-rare condition, with an incidence of ~1 per 1-3 million live births; data on its genetic and clinical features are scarce. We conducted a retrospective study of 21 paediatric patients with SIOD diagnosed in our centre during the years 2003-2023. The most common extra-renal clinical features were short stature, osseous dysplasia, multiple stigmas, and leukopenia. Proteinuria of varying severity was observed in 16 cases. The five-year overall survival rate (OS) was 89% (95% CI 77-100%), and the ten-year OS was 10%. Next-generation sequencing (NGS) revealed the following PSVs in SMARCAL1 in 19 patients: c.355_500del, c.2542G>T, c.2290C>T, c.2562del, c.2533_2534del, c.1582A>C, c.1933C>T, c.1010T>C, c.1736C>T, c.2070dup, c.2551A>T, c.2149_2150dup, c.939delC, and c.1451T>A; the most common was c.2542G>T, resulting in premature translation termination (p.E848*), and it was found in 14 patients either in a homozygous (four patients) or compound-heterozygous (10 patients) state. According to microsatellite analysis, it is a "founder mutation" in Russia.
Epstein-Barr virus-associated lymphoproliferative disease in a patient with Shimke immuno-osseous dysplasia.
Myasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.
We report a rare association between Schimke immune-osseous dysplasia and myasthenia gravis. Clinicians should be aware of potential autoimmune neuromuscular complications in SIOD, as early recognition and tailored immunosuppression may improve prognosis.
Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.
Schimke Immuno-Osseous Dysplasia Is a Rare Autosomal Recessive Multisystem Disorder Caused by Biallelic Pathogenic Variants in the SMARCAL1 Gene, Which Encodes a DNA Annealing Helicase Essential for Replication Fork Stability and Genomic Maintenance. Loss of SMARCAL1 Function Leads to Genomic Instability, Resulting in a Characteristic Clinical Triad of Disproportionate Short Stature, Steroid-Resistant Nephrotic Syndrome and Immunodeficiency. Kidney Transplantation Is the Standard Treatment for End-Stage Renal Disease in Schimke Immuno-Osseous Dysplasia. However, the Underlying Genomic Fragility and Immunodeficiency Heighten the Risk of Post-Transplant Complications, Particularly Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disorder. We Report the Case of a 7-Year-Old Girl With Genetically Confirmed Schimke Immuno-Osseous Dysplasia Who Developed Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma Eight Months Following Maternal Kidney Transplantation, Despite Reduced-Intensity Immunosuppression. Rituximab Therapy Resulted in Complete Remission, but Required the Withdrawal of all Immunosuppressive Agents, Thereby Posing a Risk of Kidney Graft Loss. In the Context of Primary Immunodeficiency and the Development of Post-Transplant Lymphoproliferative Disorder in Such a Setting, the Patient Subsequently Underwent Haploidentical Hematopoietic Stem Cell Transplantation From the Mother, Using an αβ T-Cell-Depleted Graft and a Nephrotoxicity-Sparing Conditioning Regimen. Full Donor Chimerism Was Achieved by Day 28. Immune Reconstitution Occurred Within One Year. At 27 Months After Hematopoietic Stem Cell Transplantation She Remains in Remission With Preserved Kidney Function and no Ongoing Immunosuppression. This Case Highlights the Feasibility of Haploidentical Hematopoietic Stem Cell Transplantation as a Curative Salvage Strategy for Immunosuppression-Free Survival After Kidney Transplantation in Patients With Schimke Immuno-Osseous Dysplasia.
Publicações recentes
Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.
Clinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.
Myasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.
Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.
Dentofacial Features in Schimke Immuno-Osseous Dysplasia: From Childhood to Adolescence.
📚 EuropePMC90 artigos no totalmostrando 57
Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.
Frontiers in immunologyClinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.
Balkan medical journalMyasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.
Clinical case reportsSuccessful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.
Pediatric transplantationDentofacial Features in Schimke Immuno-Osseous Dysplasia: From Childhood to Adolescence.
Clinical case reportsUncommon Factors Leading to Nephrotic Syndrome.
BiomedicinesEpstein-Barr virus-associated lymphoproliferative disease in a patient with Shimke immuno-osseous dysplasia.
Pediatrics international : official journal of the Japan Pediatric SocietyGenetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
International journal of molecular sciencesDifferent growth patterns in two siblings with Schimke immuno-osseous-dysplasia.
Pediatric nephrology (Berlin, Germany)Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia.
Journal of clinical immunologyExpanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings.
Journal of clinical research in pediatric endocrinologyLoss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia.
Pathology, research and practiceInborn errors of immunity with kidney and urinary tract disorders: a review.
International urology and nephrologyThe odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes.
Frontiers in cell and developmental biologyOptimal transplantation options for children with Schimke immuno-osseous dysplasia.
Pediatric transplantationClinical course of post-kidney transplant Schimke immuno-osseous dysplasia.
Pediatric transplantationSchimke immuno-osseous dysplasia. A case report in Colombia.
Molecular genetics and metabolism reportsHereditary dentin defects with systemic diseases.
Oral diseasesSuccessful low-dose immunotherapy after kidney transplantation in a 10-year-old girl with Schimke immuno-osseous dysplasia.
Pediatric transplantationT-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.
Frontiers in immunologySequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia. Reply.
The New England journal of medicineSequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia.
The New England journal of medicineStem cell-kidney transplantation in Schimke immuno-osseous dysplasia.
Nature reviews. NephrologyMoyamoya Syndrome in Schimke Immune-Osseous Dysplasia: A Rare Association.
CureusOn the Interaction Between SMARCAL1 and BRG1.
Frontiers in cell and developmental biologyDifferent Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.
Endocrine, metabolic & immune disorders drug targetsA patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
Journal of human geneticsA novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing.
The Journal of international medical researchActivity of blinatumomab in lymphoblastic leukemia with impaired T-cell immunity due to congenital immunodeficiency.
Blood advancesExpanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
International journal of molecular sciencesSMARCAL1, the annealing helicase and the transcriptional co-regulator.
IUBMB lifePodocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.
BMC nephrologySchimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.
Brain & development[SMARCAL1, roles and mechanisms in genome stability maintenance].
Yi chuan = HereditasInducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes.
Disease models & mechanismsSchimke Immuno-osseous Dysplasia: A Case Report.
Indian journal of nephrologyWhole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Frontiers in geneticsReversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia.
Pediatric neurologyRegulation of ATM and ATR by SMARCAL1 and BRG1.
Biochimica et biophysica acta. Gene regulatory mechanismsEarly Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.
Iranian journal of child neurologyReversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia.
NeuroradiologyRecA-like domain 2 of DNA-dependent ATPase A domain, a SWI2/SNF2 protein, mediates conformational integrity and ATP hydrolysis.
Bioscience reportsSuccessful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis.
Cardiology in the youngLow renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
PloS oneDiffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia.
Pediatric neurologyAnnealing helicase HARP closes RPA-stabilized DNA bubbles non-processively.
Nucleic acids researchIncreased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Orphanet journal of rare diseasesChromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.
Nucleus (Austin, Tex.)Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report.
Pediatric transplantationImportance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.
The Turkish journal of pediatricsSpondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Journal of clinical immunologyLack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Clinical immunology (Orlando, Fla.)Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.
Pediatric researchLigand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1.
The FEBS journalMedullary nephrocalcinosis in Schimke immuno-osseous dysplasia.
Pediatrics international : official journal of the Japan Pediatric SocietyTowards unraveling the human tooth transcriptome: the dentome.
PloS one[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
Zhonghua er ke za zhi = Chinese journal of pediatricsAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Displasia imuno-óssea 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
É um grupo de fenótipos raro caracterizado pela combinação de alterações esqueléticas e anormalidades imunológicas. Ela está registrada internacionalmente sob os códigos ORPHA:169349 e MONDO:0015708.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 fontes citadas no texto · 7 publicações do grafo RarasNet (PubMed) · 5 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. (2026). Displasia imuno-óssea. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/displasia-imuno-ossea
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Displasia imuno-óssea
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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
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
