Uma condição inflamatória caracterizada por vermelhidão intensa e generalizada da pele, descamação, perda de cabelo, diarreia crônica, dificuldade de crescer e ganhar peso, inchaço dos gânglios linfáticos e aumento do fígado e do baço, associada à Imunodeficiência Combinada Grave (SCID).
Introdução
O que você precisa saber de cara
Uma condição inflamatória caracterizada por vermelhidão intensa e generalizada da pele, descamação, perda de cabelo, diarreia crônica, dificuldade de crescer e ganhar peso, inchaço dos gânglios linfáticos e aumento do fígado e do baço, associada à Imunodeficiência Combinada Grave (SCID).
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
+ 43 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 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
10 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770)
Cell membraneCell surface
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative
A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, gener
Nucleus
Combined cellular and humoral immune defects with granulomas
Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography.
ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Probable transcription regulator. May be involved in the in 45S precursor rRNA production
NucleusNucleus, nucleolus
CHARGE syndrome
Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage
Nucleus
Combined cellular and humoral immune defects with granulomas
Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography.
Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP)
Cell membraneSecreted
Immunodeficiency 104, severe combined
A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:16670267, PubMed:23193172, PubMed:26166670, PubMed:8452534, PubMed:9361033). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (
Cell membraneCell junctionCytoplasmic vesicle lumenCytoplasmLysosome
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency
An autosomal recessive disorder accounting for about 50% of non-X-linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency.
Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination (PubMed:11336668, PubMed:11955432, PubMed:12055248, PubMed:14744996, PubMed:15071507, PubMed:15574326, PubMed:15936993). Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments (PubMed:11336668, PubMed:11955432, PubMed:14744996)
Nucleus
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation
A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity.
The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides
CytoplasmNucleus
Proteasome-associated autoinflammatory syndrome 5
An autosomal recessive, autoinflammatory disorder characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration in the skin, fever, failure to thrive, and persistent hepatosplenomegaly. Disease onset is in early infancy.
DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:12517771, PubMed:17290226, PubMed:23523427, PubMed:29980672, PubMed:33586762, PubMed:8798671, PubMed:9242410, PubMed:9809069). Catalyzes the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). Joins single-strand breaks in a d
Nucleus
LIG4 syndrome
Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.
Variantes genéticas (ClinVar)
555 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
22 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 — Síndrome Omenn
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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
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
7 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.
The Primary Immune Deficiency Treatment Consortium performed a retrospective analysis of 133 patients with severe combined immunodeficiency (SCID) receiving matched sibling donor (MSD) hematopoietic cell transplantation (HCT) between 1980 and 2023 at 30 North American institutions. In this largest cohort of MSD outcomes in patients with SCID to date, we examined the impact of conditioning regimen and graft-versus-host disease (GVHD) prophylaxis on survival and immune recovery. Outcomes after MSD HCT for SCID were excellent. Patients without an active infection or failure to thrive (FTT) at the time of HCT had 5-year overall survival superior to those with infection or FTT. Acute and chronic GVHD outcomes were independent of GVHD prophylaxis, conditioning regimen, SCID type, or presence of maternal engraftment. Patients without active infection at the time of HCT had superior chronic GVHD-free event-free survival vs those with infection. T-cell reconstitution at 6 months was less likely achieved with use of GVHD prophylaxis or serotherapy, and in patients with leaky SCID or Omenn syndrome. At 6 months, 1 year, and 2-5 years, T-cell reconstitution was less likely with ADA, DCLRE1C, or RAG genotype. B-cell reconstitution at 1 year and 2-5 years was negatively affected by development of grade 2 to 4 or 3 to 4 acute GVHD. Conditioning did not affect T- or B-cell reconstitution. Our data suggest omitting conditioning and GVHD prophylaxis for patients with typical SCID did not negatively affect 5-year outcomes after MSD HCT, but the data are insufficient to recommend this approach for best long-term outcomes. This trial was registered at www.clinicaltrials.gov as #NCT01186913 and #NCT01346150.
Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.
Severe combined immunodeficiency (SCID) is a life-threatening inborn error of immunity (IEI) that is potentially curable when diagnosed early but is associated with high morbidity and mortality when recognition is delayed. In settings without universal newborn screening (NBS), and where vaccination programs rely heavily on live vaccines, affected infants are at risk of preventable complications. We report an Indonesian girl, the first child of non-consanguineous parents, who at the age of three months, developed a generalized maculopapular rash, followed by febrile encephalopathy with acute flaccid paralysis and hepatomegaly at four months of age. Investigations revealed pan-hypogammaglobulinemia (IgG <1.09 g/L, IgA <0.05 g/L, IgM 0.06 g/L) and marked eosinophilia (7554 cells/uL). On transfer to Singapore, detailed immunophenotyping revealed T cell lymphocytopenia with the vast majority being 99.3% CD45RO+ on CD3+CD4+ cells, and absent B cells. The diagnosis of SCID with Omenn syndrome was made, with genetic analysis revealing compound heterozygosity for pathogenic RAG1 variants. As the child received oral polio vaccine (OPV) at day 8 of life, vaccine-associated paralytic poliomyelitis (VAPP) was suspected, which was confirmed with positive enterovirus PCR in the cerebral spinal fluid; Sabin-like poliovirus serotype 1 was isolated from stool. Hematopoietic stem cell transplantation (HSCT) was discussed but the family opted for supportive palliative care. The child died of a febrile illness at 8 months of age. Although IEI was initially suspected, the use of limited flow cytometric diagnostic evaluation delayed the definitive diagnosis in the child. The lack of NBS for SCID, together with the continued usage of OPV in the routine childhood vaccination program in most lower to middle income countries is the perfect storm for VAPP in children born with IEIs in these settings. This case highlights that 1) there is an urgent need to strengthen diagnostic capabilities in resource-limited settings, 2) the transition from OPV to inactivated polio vaccine (IPV) is a public health priority, and 3) there are significant barriers to the implementation of SCID NBS in Southeast Asia. Addressing these systemic gaps is critical to improve survival outcomes for children with severe but treatable IEIs.
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
Cartilage hair hypoplasia (CHH) syndrome (OMIM #250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hypotrichosis and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases, and predisposition to malignancies. CHH results from homozygous or compound heterozygous mutations in the RMRP gene on chromosome 9p13, which encodes an untranslated RNA component of mitochondrial RNA-processing endoribonuclease. RMRP pathogenic variants can also lead to Omenn Syndrome (OS) (OMIM #603554), a systemic inflammatory condition displaying neonatal erythroderma and immunodeficiency. This report highlights the genotypic and phenotypic overlap between CHH and OS, by presenting a newborn with skeletal dysplasia, immunodeficiency and neonatal onset erythroderma, carrying the homozygous NR_003051:n.35C > A variant in the RMRP gene. The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications. The diagnosis of typical and atypical X-SCID is established in a male proband with suggestive findings and a hemizygous pathogenic variant in IL2RG identified by molecular genetic testing. Treatment of manifestations: Typical X-SCID. Newborns with an abnormal NBS require immediate subspecialty immunology evaluation at a center with expertise in the diagnosis of SCID and its genetic causes, and in SCID treatment protocols, including HSCT or gene therapy. While clinical practices and protocols can vary depending on the center, treatment goals include ensuring the safety of the infant/child, prophylaxis for infections, and preemptive HSCT to establish a functional immune system prior to the development of symptoms. Atypical X-SCID. Treatment depends on the degree of infectious complications and the presence of immune dysregulation and/or autoimmunity, and requires subspecialty immunologic care to assist in the diagnosis and choice of antimicrobial and immune-suppressive therapies. Surveillance: After successful HSCT, routine monitoring of affected males every six to 12 months regarding lineage-specific donor cell engraftment; growth, immune, and lung function; and any gastrointestinal and/or dermatologic issues. If HSCT involved conditioning chemotherapy, long-term monitoring of vital organ function and neurodevelopmental progress is also warranted. Agents/circumstances to avoid: To ensure the safety of affected individuals of all ages pending definitive treatment to achieve immunocompetence, parents and other care providers need to assure that the following are avoided: breast-feeding and breast milk (pending clarification of maternal CMV status); exposure to young children, sick persons, or individuals with cold sores; crowded enclosed spaces; live viral vaccines for the affected individual as well as household contacts; transfusion of non-irradiated blood products; areas of construction or soil manipulation. Evaluation of relatives at risk: When the IL2RG pathogenic variant causing X-SCID in the family is known, prenatal testing of at-risk male fetuses may be performed to help prepare for optimal management of an affected infant at birth. If prenatal testing has not been performed, an at-risk newborn male should immediately be placed in a safe environment and tested for the familial IL2RG pathogenic variant to allow earliest possible diagnosis and treatment. X-SCID is inherited in an X-linked manner. The chance that a female who is heterozygous (i.e., a carrier) for the familial IL2RG pathogenic variant will transmit the variant in each pregnancy is 50%: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will be clinically asymptomatic. Affected males transmit the IL2RG pathogenic variant to all of their daughters and none of their sons. Once the IL2RG pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of RAG-mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic RAG variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons. T helper 2 (TH2) cell skewing and a prominent inflammatory signature characterize Omenn syndrome, whereas more hypomorphic forms of RAG deficiency are associated with a type 1 immune profile both in blood and tissues. We used cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) analysis to define the cell lineage-specific contribution to the immunopathology of the distinct RAG phenotypes. These insights may help improve the diagnosis and clinical management of the various forms of the disease.
Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.
This case represents a 2-month old female infant with a rare and challenging case of Omenn syndrome that was the result of a compound heterozygous mutation in recombination-activating gene 2, an occurrence infrequently documented in the literature. The presentation was challenging as the patient complained of recurrent infections and generalized rash. Immunological workup demonstrated preserved T cells and extremely high immunoglobulin E levels. This case highlights the significance of considering leaky severe combined immunodeficiency in the differential diagnosis of early life erythroderma and recurrent infections, despite the absence of typical severe combined immunodeficiency findings. We report the case of a 2-month-old Palestinian Arab female infant, born to nonconsanguineous parents, with a positive family history of immunodeficiency, who presented with persistent high-grade fever, diffuse erythrodermic rash, recurrent lower respiratory tract infections, and failure to thrive. Physical examination revealed generalized lymphadenopathy and hepatosplenomegaly. Initial laboratory investigations showed eosinophilia and markedly elevated serum immunoglobulin E levels. Immunological workup demonstrated profound B-cell lymphopenia, preserved natural killer cell counts, and a cluster of differentiation 4/cluster of differentiation 8 T-cell imbalance. Chest radiography revealed absence of a thymic shadow. Whole exome sequencing identified compound heterozygous mutations in the recombination-activating gene 2, confirming the diagnosis of Omenn syndrome. The patient received aggressive antimicrobial therapy and supportive immunologic care. Despite optimal medical management, she succumbed to infection-related complications at 7 months of age, prior to undergoing hematopoietic stem cell transplantation. This case underscores the diagnostic and therapeutic challenges in managing Omenn Syndrome, particularly in settings where routine newborn screening for severe combined immunodeficiency is not available. Early recognition and genetic diagnosis are vital to initiate life-saving interventions such as hematopoietic stem cell transplantation. Increased awareness among clinicians regarding atypical presentations of primary immunodeficiency can lead to earlier referrals, improved outcomes, and reduction in diagnostic delays.
Publicações recentes
An update on inborn errors of V(D)J recombination.
Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
X-Linked Severe Combined Immunodeficiency.
Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.
📚 EuropePMC128 artigos no totalmostrando 135
Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.
Frontiers in immunologyNeonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
European journal of medical geneticsOutcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.
Blood advancesDouble-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.
Journal of medical case reportsAtopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.
Immunologic researchA novel hypomorphic mutation in IL2RG associated with severe interstitial lung disease.
The journal of allergy and clinical immunology. GlobalSevere Combined Immunodeficiency in the Newborn Period.
NeoReviewsNewborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.
Journal of clinical immunologyUnraveling Omenn syndrome in a newborn: A case report.
JAAD case reportsMultiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Science immunologyThymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.
The Journal of allergy and clinical immunologyPathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.
Life (Basel, Switzerland)The Latin American Society for Immunodeficiencies Registry.
Journal of clinical immunologyOmenn syndrome: A rare manifestation of severe combined immunodeficiency masquerading as drug reaction with eosinophilia and systemic symptoms.
Journal of paediatrics and child healthRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectInvestigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity.
Clinical and experimental immunologyHSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome.
Journal of clinical immunologyNovel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.
Journal of clinical immunologyDesmoglein-1 Deficiency Mimicking Omenn Syndrome.
Indian journal of dermatologySuccessful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report.
Clinical case reportsFlow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.
Frontiers in immunologyOmenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency.
Journal of clinical immunologyNUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Science immunologyOmenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
Journal of clinical immunologyExpanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
American journal of human geneticsHuman Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
Journal of clinical immunologyPartial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
Frontiers in immunologyOmenn syndrome in a 10-month-old male with athymia and VACTERL association.
The journal of allergy and clinical immunology. GlobalHeterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Clinical and experimental immunologyEosinophilic myocarditis: from etiology to diagnostics and therapy.
Minerva cardiology and angiologyInborn Errors of Immunity-the Sri Lankan Experience 2010-2022.
Journal of clinical immunologyCalcineurin Inhibitor-Induced Type IV Renal Tubular Acidosis in Post-Bone Marrow Transplant: Review of Pathophysiology and Principles of Management.
CureusProposal of Slovenian guidelines for the diagnosis of neonatal erythroderma with a case report of Omenn syndrome.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaImmunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
ImmunogeneticsQuality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home.
Journal of clinical immunologyHematopoietic stem cell Transplantation in Children with very Early Onset Inflammatory Bowel Disease Secondary to Monogenic Disorders of immune-dysregulation.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionSuccessful Hematopoietic Stem Cell Transplant in a Patient with Omenn Syndrome: A Case Report.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationProspective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Journal of clinical immunologyCo-Expression Pattern of Artemis Serine 516 Phosphorylation with Indicators Involving in Differentiation, Proliferation and Apoptosis of Human Anagen Hair Follicles: An Immunofluorescence Double-Staining Study.
Frontiers in bioscience (Landmark edition)Successful hematopoietic stem cell transplantation with reduced dose of busulfan for Omenn syndrome.
Blood cell therapyLymphocyte disturbance and functional assessment of the [Asp521Asn] ZAP70 mutation.
Clinical immunology (Orlando, Fla.)HyperIgE in hypomorphic recombination-activating gene defects.
Current opinion in immunologyThe diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
The Journal of allergy and clinical immunologyThe diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
The Journal of allergy and clinical immunologyCase report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Frontiers in immunologyWhole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.
Allergologia et immunopathologiaHypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
BloodAtopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Diagnostics (Basel, Switzerland)Concomitant Langerhans and Interdigitating Reticulum Cell Hyperplasia in a Reactive Lymph Node of an Infant with Omenn Syndrome: A Diagnostic Pitfall for Langerhans Cell Histiocytosis.
International journal of surgical pathologyInborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Frontiers in pediatricsInborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008-2021).
Frontiers in immunologySCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Journal of clinical immunologyClinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
Journal of clinical immunologyProposal for a 6-step approach for differential diagnosis of neonatal erythroderma.
Journal of the European Academy of Dermatology and Venereology : JEADVAn infant with omenn syndrome: A case report.
Annals of medicine and surgery (2012)Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection.
Frontiers in immunologyPrimary atopic disorders and chronic skin disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyOmenn Syndrome due to RAG1 Mutation Presenting With Nonimmune Hydrops Fetalis in Two Siblings.
PediatricsPrenatal ultrasound diagnostic approach to Omenn syndrome: case report.
Revista colombiana de obstetricia y ginecologiaGiant Cell Myocarditis in Children: Elusive Giant Cells Might Not Be the Only Clue.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCompound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
ImmunogeneticsStructural and mechanistic insights into the Artemis endonuclease and strategies for its inhibition.
Nucleic acids researchA heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGLymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.
Clinical and experimental immunologyOmenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.
ImmunobiologyClinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Journal of clinical immunologyActivity of blinatumomab in lymphoblastic leukemia with impaired T-cell immunity due to congenital immunodeficiency.
Blood advancesUse of ruxolitinib to control graft-versus-host-like disease in Omenn syndrome and successfully bridging to HSCT.
The journal of allergy and clinical immunology. In practiceInborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate.
The journal of allergy and clinical immunology. In practiceDiagnosing Omenn syndrome.
Pediatric dermatologyExpanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
Journal of clinical immunologyClinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.
Journal of clinical immunologyChondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
American journal of medical genetics. Part AInnovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
Frontiers in immunologyLeiner's disease (erythroderma desquamativum): A review and approach to therapy.
Dermatologic therapyBacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.
Journal of clinical immunologyA Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome.
Journal of clinical immunologyTREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Clinical and experimental immunologyThe Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Frontiers in immunologyMutational landscape of severe combined immunodeficiency patients from Turkey.
International journal of immunogeneticsErythroderma in a newborn infant suggesting Omenn syndrome.
The British journal of dermatologyNot just a rash diagnosis! The allergist's role in improving recognition of Omenn syndrome.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyType 2 immunity in the skin and lungs.
AllergyCutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
The Journal of allergy and clinical immunologyEuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Frontiers in immunologyA Spontaneous RAG1 Nonsense Mutation Unveils Naturally Occurring N-Terminal Truncated RAG1 Isoforms.
ImmunoHorizonsSuccessful Allogeneic Stem Cell Transplantation in Nuclear Factor-Kappa B Essential Modulator Deficiency Syndrome After Treosulfan-Based Conditioning: A Case Report.
Transplantation proceedingsOmenn Syndrome Identified by Newborn Screening.
Clinics in perinatology[Ichtyosiform erythroderma revealing a severe combined immunodeficiency].
Annales de dermatologie et de venereologieAtypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report.
Iranian journal of immunology : IJIA Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome.
Frontiers in geneticsClinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Frontiers in immunologyProminent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene.
The Journal of dermatologyRefining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes.
The British journal of dermatologyThe R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice.
Scientific reportsHuman DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
Journal of clinical immunologyRecent advances in understanding RAG deficiencies.
F1000ResearchRAG gene defects at the verge of immunodeficiency and immune dysregulation.
Immunological reviewsPhenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Clinical and experimental immunologyHyper IgE syndromes: clinical and molecular characteristics.
Immunology and cell biologySCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.
BloodRecombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
The Journal of allergy and clinical immunologyCharacterization of an N-Terminal Non-Core Domain of RAG1 Gene Disrupted Syrian Hamster Model Generated by CRISPR Cas9.
VirusesTopical Hypochlorite and Skin Acidification Improves Erythroderma of Omenn Syndrome.
Pediatrics[Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].
Zhonghua er ke za zhi = Chinese journal of pediatricsEfficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
The Journal of allergy and clinical immunologyImmune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.
BloodA Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.
The Journal of molecular diagnostics : JMDCharacterization of T and B cell repertoire diversity in patients with RAG deficiency.
Science immunology[Omenn Syndrome and DNA recombination defects].
Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunologyCongenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome.
European journal of dermatology : EJDHematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.
Turkish journal of haematology : official journal of Turkish Society of HaematologyCytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency.
The Journal of allergy and clinical immunologyMutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.
Archivum immunologiae et therapiae experimentalisOmenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn.
Pediatric dermatologyRAGs and BUGS: An alliance for autoimmunity.
Gut microbesAgammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.
Clinical immunology (Orlando, Fla.)Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
BloodPrimary immunodeficiencies associated with eosinophilia.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyRecombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.
Journal of clinical medicine researchIntestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects.
The Journal of experimental medicine[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThree faces of recombination activating gene 1 (RAG1) mutations.
Acta microbiologica et immunologica HungaricaMolecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).
Journal of clinical immunologyDifferential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.
Actas dermo-sifiliograficasClinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.
Immunologic researchDCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Human molecular geneticsOmenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
BloodEosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
Immunology and allergy clinics of North AmericaLeaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
PloS oneAdvances in basic and clinical immunology in 2014.
The Journal of allergy and clinical immunologyMutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
Clinical immunology (Orlando, Fla.)Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
PloS oneRAG1 deficiency may present clinically as selective IgA deficiency.
Journal of clinical immunologyCyclosporin treatment improves skin findings in omenn syndrome.
Pediatric dermatologyAssociações
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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.
- Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.
- Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.
- Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
- Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
- Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.
- An update on inborn errors of V(D)J recombination.
- X-Linked Severe Combined Immunodeficiency.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:39041(Orphanet)
- OMIM OMIM:603554(OMIM)
- MONDO:0011338(MONDO)
- GARD:8198(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2214419(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
