A deficiência de adesão leucocitária (LAD) é uma imunodeficiência primária caracterizada por defeitos no processo de adesão leucocitária, leucocitose acentuada e infecções recorrentes.
Introdução
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A deficiência de adesão leucocitária (LAD) é uma imunodeficiência primária caracterizada por defeitos no processo de adesão leucocitária, leucocitose acentuada e infecções recorrentes.
Escala de raridade
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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
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 143 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity) Isoform 2 may act as a repressor of NF-kappa-B and apoptosis
Cell projection, podosome
Leukocyte adhesion deficiency 3
A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.
Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen
Golgi apparatus membrane
Congenital disorder of glycosylation 2C
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.
Integrin ITGAL:ITGB2 is a receptor for ICAM1, ICAM2 and ICAM3 (PubMed:1676048, PubMed:23775590, PubMed:38195629). Integrin ITGAL:ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM:ITGB2 and ITGAX:ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX:ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM:ITGB2 recogniz
Cell membraneMembrane raft
Leukocyte adhesion deficiency 1
LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.
Variantes genéticas (ClinVar)
277 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,689 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 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)
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Publicações mais relevantes
Integrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.
Impaired integrin activation on neutrophils is the hallmark of leukocyte adhesion deficiency syndrome in humans, characterized by reduced leukocyte recruitment. The regulation of intracellular calcium levels in neutrophils is important for cellular processes; however, the exact role of store-operated calcium entry (SOCE) and the involvement of stromal interaction molecule (STIM) calcium sensors, and ORAI1-3 calcium channels in neutrophil activation and recruitment is unknown. Using an acute kidney injury (AKI) model, intravital microscopy, and biochemical studies, we examined the molecular mechanisms of Ca2+-regulated neutrophil activation and recruitment. We demonstrate that STIM1 and ORAI1 in neutrophils are selectively required for E-selectin- and CXCL-1-, but not P-selectin-mediated activation of the β2-integrin CD11a and neutrophil recruitment. Surprisingly, we did not detect an impact of STIM and ORAI isoform expression on neutrophil CD11b activation. Using a clinically relevant murine AKI model, we point out that STIM1- and ORAI1-deficiency in neutrophils prevents neutrophil recruitment into the kidney during sterile inflammation. Thus, we uncover stimulus specific integrin regulation in neutrophils as a critical determinant of an adequate immune response and pinpoint the clinical relevance of STIM1 and ORAI1.
Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence.
(1) Background: Wound healing is a highly coordinated process encompassing hemostasis, inflammation, angiogenesis, keratinocyte migration, collagen deposition, and extracellular matrix remodeling. Successful repair also requires adequate nutrient and oxygen delivery through a well-developed vascular supply. Disruption of these processes can occur through aberrations in diverse biological pathways, including extracellular matrix organization, cellular adhesions, angiogenesis, and immune regulation. (2) Methods: We reviewed mechanisms of impaired tissue repair in monogenic disorders by focusing on three categories-connective tissue, hematological/immunological, and aging-related disorders-to illustrate how single-gene defects disrupt inflammation, cellular proliferation, and matrix remodeling. Additionally, we reviewed various polygenic disorders-chronic kidney disease, diabetes mellitus, hypertension, and obesity-to contrast complex multifactorial pathologies with single-gene defects. (3) Results: This review establishes that genetic impediments, despite their distinct etiologies, monogenic and polygenic disorders share critical downstream failures in the wound healing cascade. While monogenic diseases illustrate direct causal links between specific protein deficits and repair failure, polygenic diseases demonstrate how multifactorial stressors overwhelm the body's regenerative capacity. (4) Conclusions: This review synthesizes current evidence on both monogenic diseases and polygenic contributions to impaired wound healing. These findings highlight that genetic susceptibility is a decisive factor in the ability to restore tissue homeostasis. This underscores the profound impact of genetic background on the efficacy of hemostasis, inflammation, and remodeling.
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
Fucosylation disorders are rare types of congenital disorders of glycosylation (CDG), the most common being SLC35C1-CDG, which is classically described as a leukocyte adhesion deficiency (hence the previous name of "leukocyte adhesion deficiency type II") with dysmorphic features, short stature, and moderate-to-severe developmental and intellectual disabilities. In more recent years, several cases have been described of individuals with bi-allelic SLC35C1 variants and biochemical proof of hypofucosylation who had short stature, dysmorphic features, and intellectual disability, but no hematological abnormalities. In this article, we report a patient with growth faltering, neuroirritability, nystagmus, developmental delays, microcephaly, dysmorphic features, and hypogammaglobulinemia G. Biochemical investigations including serum N-glycan profiling, fucosylation-focused whole serum glycoprotein profiling, and serum lectin blots, all of which showed significant global hypofucosylation. Exome sequencing revealed a single likely pathogenic variant, SLC35C1 (NM_018389.4):c.503_505delTCT, p.(Phe168del), which was inherited from an unaffected mother. Whole genome sequencing with manual review of raw data did not reveal any second pathogenic variants; SLC35C1 mRNA sequencing was negative for changes in the second allele or allelic imbalance. The patient was started on L-fucose supplementation, with subsequent improvements in weight and head circumference, normalization of IgG levels, and remarkable developmental catch-up. Biochemically, there was an increase in abundance of previously decreased fucosylated glycan species in serum, especially Fuc1GlcNAc2Man3 (a glycan that is known to be enriched in neutrophils). In summary, we present here further evidence for the role of L-fucose supplementation in treating hypofucosylation disorders and suggest that IgG and fucosylated glycan species may be useful as biomarkers in this scenario, although further research is needed to validate them as such. It is likely that the early introduction of L-fucose in this patient may have led to the excellent developmental outcomes observed.
Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.
Bone marrow transplantation for leukocyte adhesion deficiency type III: immunosuppressant dosage adjustments against severe T-cell mixed chimerism.
Allogeneic stem cell transplantation from an HLA-mismatched unrelated donor was performed for a patient with leukocyte adhesion deficiency type III with a myeloablative regimen including full-dose busulfan. Mixed chimerism with donor-derived T cells at less than 10% was observed within 4 weeks after transplantation. Repeated cycles of discontinuation and resumption of tacrolimus early after transplantation were performed with the aim of reversing the recipient-dominant T-cell chimerism. Specifically, tacrolimus was quickly tapered on day 15 and discontinued on day 20 when the recipient's chimerism increased, and resumed upon the observation of early signs of acute graft-versus-host disease, such as fever and skin rash, on day 24. This process was repeated from day 30 to day 44. All subsets, including granulocytes, T cells, and natural killer cells, attained donor chimerism of more than 90% on day 42 after transplantation and 100% at day 82 and beyond. Immunosuppressant dosage adjustments may be a treatment option for mixed chimerism after stem cell transplantation.
Publicações recentes
Leukocyte Adhesion Deficiency in a 42-Day-Old Infant: A Case Report.
A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings.
Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.
Integrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
📚 EuropePMC353 artigos no totalmostrando 195
Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.
Clinical and experimental dermatologyIntegrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.
Cell communication and signaling : CCSL-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
Molecular genetics and metabolismGenetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence.
CellsDifferences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.
BiomedicinesBone marrow transplantation for leukocyte adhesion deficiency type III: immunosuppressant dosage adjustments against severe T-cell mixed chimerism.
Blood cell therapyWhat should be investigated in delayed umbilical cord separation: Two case reports.
World journal of clinical pediatrics''Clinical Management of Acute Mastoiditis in a Pediatric Patient with Leukocyte Adhesion Deficiency''.
Journal of otologyPeriodontal Manifestations of Systemic Diseases.
Journal of periodontal researchHematopoietic cell transplantation for leukocyte adhesion deficiency: prevention of graft-versus-host-disease.
Expert review of hematologySuccessful management of a pediatric cardiac patient with Bombay blood group and leukocyte adhesion deficiency type II: A case report and literature review.
Saudi journal of anaesthesiaAn atypical adolescent case of leukocyte adhesion deficiency I caused by a novel ITGB2 splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation.
Clinical and experimental immunologyHydrophobicity-Driven Disruption Mechanism in Kindlin-3 Induced by Leukocyte Adhesion Deficiency Mutation.
ACS omegaLentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1.
The New England journal of medicineLeukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran.
BMC pediatricsA novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review.
Archives of dermatological researchLymphoblastoid and Jurkat cell lines are useful surrogate in developing a CRISPR-Cas9 method to correct leukocyte adhesion deficiency genomic defect.
Frontiers in bioengineering and biotechnologyA Novel Variant of the FERMT3 Gene Associated With Leukocyte Adhesion Deficiency Type III (LAD-III) in a Saudi Family: A Case Series.
CureusGene therapy for inborn errors of immunity: Current clinical progress.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyDual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report.
Frontiers in immunologyViral-based gene therapy clinical trials for immune deficiencies and blood disorders from 2013 until 2023 - an overview.
Regenerative therapyDistribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective.
Animals : an open access journal from MDPIEight induced pluripotent stem cell lines (iPSCs) derived from two patients with Leukocyte adhesion deficiency Type I (LAD I) with mutations in the ITGB2 gene.
Stem cell researchSequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.
ImmunogeneticsUnveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.
Molecular biology reportsSelected Monogenic Genetic Diseases in Holstein Cattle-A Review.
GenesSweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature.
Frontiers in immunologyThe sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.
ImmunogeneticsMutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients.
The international journal of biochemistry & cell biologyMultiplex fluorescent amplification-refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay.
Animal geneticsAnalysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children.
Journal of clinical immunologyUstekinumab for pyoderma gangrenosum-like skin ulcerations in late-onset leukocyte adhesion deficiency.
The journal of allergy and clinical immunology. GlobalIntegrins in Health and Disease-Suitable Targets for Treatment?
CellsLAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.
CureusClinical and functional spectrum of RAC2-related immunodeficiency.
BloodExtensive perineal ecthyma gangrenosum in leukocyte adhesion deficiency type 1 associated with Staphylococcus hominis bacteremia.
Pediatric dermatologyRole of genetic introgression in introducing mutant alleles in Bos indicus cattle and prevalence of lethal genetic disorders in Bos taurus × Bos indicus and Bos indicus cattle in India.
Tropical animal health and productionClinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.
Allergologia et immunopathologiaA novel leukocyte adhesion deficiency type III mutation manifests functional importance of the compact FERM domain in kindlin-3.
Journal of thrombosis and haemostasis : JTHWho's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Clinical immunology (Orlando, Fla.)Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
Clinical case reportsThe impact of Treosulfan-based conditioning for inborn errors of immunity: Is dose monitoring crucial?
Clinical transplantationClinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyDefective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.
Clinical immunology (Orlando, Fla.)Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors.
Journal of clinical immunologyThe Role of LFA-1 for the Differentiation and Function of Regulatory T Cells-Lessons Learned from Different Transgenic Mouse Models.
International journal of molecular sciencesClinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.
Journal of clinical immunologyPediatric pyoderma gangrenosum associated with leukocyte adhesion deficiency type 1: A case report and review of the literature.
Pediatric dermatology[Leucocyte adhesion deficiency: detection of the first cases in Paraguay].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Blood cells, molecules & diseasesA Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.
Journal of clinical immunologyPhosphorylation Regulation Mechanism of β2 Integrin for the Binding of Filamin Revealed by Markov State Model.
Journal of chemical information and modelingCase report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I.
Frontiers in immunologyImpaired Treg-DC interactions contribute to autoimmunity in leukocyte adhesion deficiency type 1.
JCI insightPreclinical Evaluation of Foamy Virus Vector-Mediated Gene Addition in Human Hematopoietic Stem/Progenitor Cells for Correction of Leukocyte Adhesion Deficiency Type 1.
Human gene therapyPreclinical safety and efficacy of lentiviral-mediated gene therapy for leukocyte adhesion deficiency type I.
Molecular therapy. Methods & clinical developmentImpairment of cytokine production following immunological synapse formation in patients with Wiskott-Aldrich syndrome and leukocyte adhesion deficiency type 1.
Clinical immunology (Orlando, Fla.)β2 Integrins on Dendritic Cells Modulate Cytokine Signaling and Inflammation-Associated Gene Expression, and Are Required for Induction of Autoimmune Encephalomyelitis.
CellsHealing With Complication: An Unusual Case of Nasal Tip Ulceration in Leukocyte Adhesion Deficiency Type 1.
The journal of allergy and clinical immunology. In practiceIncorporation of fucose into glycans independent of the GDP-fucose transporter SLC35C1 preferentially utilizes salvaged over de novo GDP-fucose.
The Journal of biological chemistryNeutrophil-Specific Knockdown of β2 Integrins Impairs Antifungal Effector Functions and Aggravates the Course of Invasive Pulmonal Aspergillosis.
Frontiers in immunologySelectin-Mediated Signaling-Shedding Light on the Regulation of Integrin Activity in Neutrophils.
CellsUnderstanding the Role of LFA-1 in Leukocyte Adhesion Deficiency Type I (LAD I): Moving towards Inflammation?
International journal of molecular sciencesDefining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
American journal of medical genetics. Part APremature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
International journal of environmental research and public healthOral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 1.
Journal of clinical immunologyNovel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.
BioMed research internationalSuccessful allogeneic stem cell transplantation with a reduced-intensity conditioning in a case of leukocyte adhesion deficiency type III.
Hematology, transfusion and cell therapyExamining the Effect of Kindlin-3 Binding Site Mutation on LFA-1-ICAM-1 Bonds by Force Measuring Optical Tweezers.
Frontiers in immunologyT-Cell Adhesion in Healthy and Inflamed Skin.
JID innovations : skin science from molecules to population healthAn adult with severe leukocyte adhesion deficiency type 1.
JAAD case reportsFrequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.
Tropical animal health and productionMolecular Insights Into Neutrophil Biology From the Zebrafish Perspective: Lessons From CD18 Deficiency.
Frontiers in immunologyCase Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.
Frontiers in pediatricsNovel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.
Journal of pediatric geneticsA novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.
Immunologic researchA doggy tale: Risk of zoonotic infection with Bordetella bronchiseptica for cystic fibrosis (CF) patients from live licenced bacterial veterinary vaccines for cats and dogs.
Journal of clinical pharmacy and therapeuticsClinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.
Clinical and experimental immunologyPerinatal Inflammation: Could Partial Blocking of Cell Adhesion Molecule Function Be a Solution?
Children (Basel, Switzerland)Prevalence of nine genetic defects in Chinese Holstein cattle.
Veterinary medicine and scienceLeukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.
Irish medical journalGene Therapies for Primary Immune Deficiencies.
Frontiers in immunologyPyoderma Gangrenosum with an Underlying Leukocyte Adhesion Deficiency Type 1 (LAD-1) and Pregnancy in the Shade of COVID-19 Epidemic: A Patient and Physician Experience.
Dermatology and therapyAllogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.
Blood advancesClinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.
Frontiers in immunologyKindlin3-Dependent CD11b/CD18-Integrin Activation Is Required for Potentiation of Neutrophil Cytotoxicity by CD47-SIRPα Checkpoint Disruption.
Cancer immunology researchGenome editing in human hematopoietic stem and progenitor cells via CRISPR-Cas9-mediated homology-independent targeted integration.
Molecular therapy : the journal of the American Society of Gene TherapyIncidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Clinical immunology (Orlando, Fla.)CIN or not: An approach to the evaluation and management of chronic idiopathic neutrophilia.
Blood reviewsThe spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.
The World Allergy Organization journalKindlin-3 recruitment to the plasma membrane precedes high-affinity β2-integrin and neutrophil arrest from rolling.
BloodPrimary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.
Frontiers in immunologyFrontline Science: Activation of metabolic nuclear receptors restores periodontal tissue homeostasis in mice with leukocyte adhesion deficiency-1.
Journal of leukocyte biologyβ2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).
ImmunobiologyImpact of gene therapy for canine monogenic diseases on the progress of preclinical studies.
Journal of applied geneticsDiapedesis-Induced Integrin Signaling via LFA-1 Facilitates Tissue Immunity by Inducing Intrinsic Complement C3 Expression in Immune Cells.
ImmunitySuccessful umbilical cord blood transplantation in children with leukocyte adhesion deficiency type I.
Translational pediatricsβ2 Integrins-Multi-Functional Leukocyte Receptors in Health and Disease.
International journal of molecular sciencesSuccessful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis.
Clinical immunology (Orlando, Fla.)MSCs rescue impaired wound healing in a murine LAD1 model by adaptive responses to low TGF-β1 levels.
EMBO reportsDistinct Contributions of CD18 Integrins for Binding and Phagocytic Internalization of Pseudomonas aeruginosa.
Infection and immunityFlow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Allergy, asthma & immunology researchNew developments in neutrophil biology and periodontitis.
Periodontology 2000Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.
Methods in molecular biology (Clifton, N.J.)Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.
Pediatric blood & cancerTechnical note: Development and application of KASP assays for rapid screening of 8 genetic defects in Holstein cattle.
Journal of dairy scienceLate diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report.
Central-European journal of immunologyNeutrophil phenotypes in chronic lung disease.
Expert review of respiratory medicineForce-Directed "Mechanointeractome" of Talin-Integrin.
BiochemistryHaploidentical stem cell transplantation with post-transplant cyclophosphamide in leukocyte adhesion deficiency type 1: a case report.
Annals of hematologyA novel mutation of the ITGB2 gene in a Chinese Zhuang minority patient with leukocyte adhesion deficiency type 1 and glucose-6-phosphate dehydrogenase deficiency.
GeneAdhesive dynamics simulations quantitatively predict effects of kindlin-3 deficiency on T-cell homing.
Integrative biology : quantitative biosciences from nano to macroCRISPR-Cas9 fusion to dominant-negative 53BP1 enhances HDR and inhibits NHEJ specifically at Cas9 target sites.
Nature communicationsEfficiency of different fragment lengths of the ubiquitous chromatin opening element HNRPA2B1-CBX3 in driving human CD18 gene expression within self-inactivating lentiviral vectors for gene therapy applications.
GeneA β2-Integrin/MRTF-A/SRF Pathway Regulates Dendritic Cell Gene Expression, Adhesion, and Traction Force Generation.
Frontiers in immunologyPrimary Immunodeficiency Disorders Among North Indian Children.
Indian journal of pediatricsA Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family.
Frontiers in geneticsReport of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.
Journal of clinical immunologyInflammatory consequences of inherited disorders affecting neutrophil function.
BloodBeta2-Integrins and Interacting Proteins in Leukocyte Trafficking, Immune Suppression, and Immunodeficiency Disease.
Frontiers in immunologyType I leucocyte adhesion deficiency in Yemenian family managed with appropriate treatment: A case series.
Dermatologic therapyCD11b Regulates Fungal Outgrowth but Not Neutrophil Recruitment in a Mouse Model of Invasive Pulmonary Aspergillosis.
Frontiers in immunologyMacrophage β2-Integrins Regulate IL-22 by ILC3s and Protect from Lethal Citrobacter rodentium-Induced Colitis.
Cell reportsProteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Molecular & cellular proteomics : MCPPrimary immunodeficiencies reveal the essential role of tissue neutrophils in periodontitis.
Immunological reviewsLeucocyte adhesion deficiency-A multicentre national experience.
European journal of clinical investigationThe Oral Microbiota Is Modified by Systemic Diseases.
Journal of dental researchCD18 is redundant for the response to multiple vaccines: A case study.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyPyoderma Gangrenosum-like Wounds in Leukocyte Adhesion Deficiency: Case Report and Review of Literature.
Plastic and reconstructive surgery. Global openADAP1 limits neonatal cardiomyocyte hypertrophy by reducing integrin cell surface expression.
Scientific reportsPalatal Ulcer in Leukocyte Adhesion Deficiency: an Unusual Occurrence.
Journal of clinical immunology[Novel mutations of ITGB2 induced leukocyte adhesion defect type 1].
Zhonghua er ke za zhi = Chinese journal of pediatricsNovel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.
Archives of Iranian medicineLeukocyte Adhesion Deficiency Type 1 with Low Expression of CD 11b.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPGenetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1.
Journal of pediatric hematology/oncologyLong term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.
Clinical immunology (Orlando, Fla.)Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency.
Central-European journal of immunologyLong-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation.
HaematologicaT-ARMS PCR genotyping of SNP rs445709131 using thermostable strand displacement polymerase.
BMC research notesAn International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.
Cytogenetic and genome researchLeukocyte adhesion defect: An uncommon immunodeficiency.
JPMA. The Journal of the Pakistan Medical AssociationLeukocyte adhesion deficiency-I: A comprehensive review of all published cases.
The journal of allergy and clinical immunology. In practiceAllogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency.
Journal of pediatric hematology/oncologyDiagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.
PlateletsDental implants in a patient with suspected leucocyte adhesion deficiency.
BMJ case reportsLeukocyte adhesion defect-I: rare primary immune deficiency.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryPrimary Immunodeficiency Diseases: Current and Emerging Therapeutics.
Frontiers in immunologyHematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III.
Pediatrics and neonatologyFeline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β2 (ITGB2) gene.
Veterinary clinical pathologyStructural basis of kindlin-mediated integrin recognition and activation.
Proceedings of the National Academy of Sciences of the United States of AmericaNecrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1.
Journal of pediatric hematology/oncologyMutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation.
Immunology lettersBiological functions of fucose in mammals.
GlycobiologyHematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.
Turkish journal of haematology : official journal of Turkish Society of HaematologyBeta2 integrins are required for follicular helper T cell differentiation in humans.
Clinical immunology (Orlando, Fla.)Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.
The New England journal of medicineSkap2 is required for β2 integrin-mediated neutrophil recruitment and functions.
The Journal of experimental medicineLeukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyLeukocyte Adhesion Deficiency III: Report of Two Siblings.
Pediatrics and neonatologyA Review of Selected Genes with Known Effects on Performance and Health of Cattle.
Frontiers in veterinary sciencePrimary immune deficiencies with defects in neutrophil function.
Hematology. American Society of Hematology. Education ProgramCase 1: Recurrent Omphalitis and Nonhealing Ulcers in a 7-month-old Girl.
Pediatrics in reviewThe role of kindlin in neutrophil recruitment to inflammatory sites.
Current opinion in hematologyProduction and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency.
Molecular therapy. Methods & clinical developmentDevelopment of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle.
SpringerPlusLeukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.
Journal of clinical immunologyBrain Abscess in a Child with Leukocyte Adhesion Defect: An Unusual Association.
Journal of clinical immunologyPhenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility.
Journal of dairy scienceLeukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis.
American journal of respiratory and critical care medicineLentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.
Human gene therapyHematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationImmune and regulatory functions of neutrophils in inflammatory bone loss.
Seminars in immunologyLeukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.
Indian journal of pediatricsInfluenza H3N2 infection of the collaborative cross founder strains reveals highly divergent host responses and identifies a unique phenotype in CAST/EiJ mice.
BMC genomicsThe kindlin family: functions, signaling properties and implications for human disease.
Journal of cell scienceMutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency.
American journal of respiratory and critical care medicineMutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.
Human immunologyInvestigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran.
Archives of Iranian medicineMinimal amounts of kindlin-3 suffice for basal platelet and leukocyte functions in mice.
BloodHighlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.
Immunologic researchRole of bacteria in leukocyte adhesion deficiency-associated periodontitis.
Microbial pathogenesisAdaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyLoss of the Rap1 effector RIAM results in leukocyte adhesion deficiency due to impaired β2 integrin function in mice.
BloodKindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells.
The Journal of experimental medicineBudd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association.
Pediatric blood & cancerNeutrophil functional disorder in childhood.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Interaction of kindlin-3 and β2-integrins differentially regulates neutrophil recruitment and NET release in mice.
BloodOptimal T Cell Activation and B Cell Antibody Responses In Vivo Require the Interaction between Leukocyte Function-Associated Antigen-1 and Kindlin-3.
Journal of immunology (Baltimore, Md. : 1950)Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions.
Journal of clinical immunologyLeucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.
BMJ case reportsA new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III.
Pediatric blood & cancerEpithelial adhesion molecules and the regulation of intestinal homeostasis during neutrophil transepithelial migration.
Tissue barriersSubgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology.
PLoS pathogensMolecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.
Blood cells, molecules & diseasesThe enduring importance of animal models in understanding periodontal disease.
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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.
- Integrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.
- Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence.
- L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
- Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.
- Bone marrow transplantation for leukocyte adhesion deficiency type III: immunosuppressant dosage adjustments against severe T-cell mixed chimerism.
- Leukocyte Adhesion Deficiency in a 42-Day-Old Infant: A Case Report.
- A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2968(Orphanet)
- MONDO:0017570(MONDO)
- GARD:16616(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1154422(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