O cromossoma 14 é um dos 23 pares de cromossomas do cariótipo humano.
Introdução
O que você precisa saber de cara
Doença rara caracterizada pela produção insuficiente de cadeias pesadas de imunoglobulinas, levando a defeitos na formação de anticorpos e aumento da suscetibilidade a infecções. Pode afetar diferentes classes de imunoglobulinas, com manifestações clínicas variáveis.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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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 — Deficiência de cadeias pesadas da imunoglobulina
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Publicações mais relevantes
Optimizing the Use of Serum Immunofixation for the Detection of Monoclonal Components in Hypogammaglobulinemia: Insights From a Tertiary-Care Biochemistry Laboratory.
Hypogammaglobulinemia is a heterogeneous immunologic abnormality that may result from primary antibody deficiencies, secondary causes, or hematologic malignancies. Although serum protein electrophoresis (SPEP) is routinely used for initial evaluation, reduced γ-globulin levels may mask small monoclonal components, limiting the sensitivity of SPEP alone. Serum immunofixation electrophoresis (IFE), with its superior analytical resolution, may therefore be useful in the diagnostic assessment of hypogammaglobulinemia. The primary objective is to determine the diagnostic yield of systematic serum IFE in adult patients with hypogammaglobulinemia detected by SPEP, defined here as the proportion of patients in whom IFE identified a monoclonal or oligoclonal immunoglobulin abnormality not apparent on SPEP alone. The secondary objectives are to describe the immunochemical patterns identified (monoclonal vs. oligoclonal) and to characterise the detected isotypes (heavy-chain class and light-chain type), including biclonal and light-chain-only profiles. A retrospective descriptive study was conducted over a 12-month period (March 2023-March 2024) at the Central Biochemistry Laboratory of Mohammed VI University Hospital, Oujda, Morocco. Adult patients (≥16 years) presenting with hypogammaglobulinemia, defined as γ-globulin <8 g/L on SPEP, were included. Serum IFE was systematically performed to confirm or exclude the presence of monoclonal immunoglobulin components. Demographic and laboratory data were extracted from the laboratory information system and analyzed descriptively. A total of 261 patients were included (52.9% male; mean age 55.3 years, range 16-82). Most were referred from hematology (61.3%), internal medicine (23.0%), and oncology (15.7%). Serum IFE revealed monoclonal or oligoclonal abnormalities in 63 patients (24.1%), while 198 (75.9%) showed no detectable monoclonal component. Among the 63 abnormal profiles, 59 (93.6%) were monoclonal gammopathies, predominantly of IgG (67.8%) and IgA (30.5%) isotypes. Biclonal gammopathies accounted for 3.1% of cases, and another 3.1% exhibited isolated λ light-chain bands without detectable heavy chains, warranting further urinary immunofixation testing. These findings indicate that nearly one in four patients with hypogammaglobulinemia had a monoclonal component not identifiable by SPEP alone. Systematic serum IFE can therefore improve laboratory assessment by uncovering masked monoclonal components that SPEP may fail to detect. The predominance of IgG and IgA clones, together with the detection of biclonal and light-chain-only patterns, highlights the value of IFE in raising suspicion for clinically relevant plasma-cell and B-cell disorders. Accordingly, these results support considering routine IFE in selected hypogammaglobulinemic patients, particularly when clinical or laboratory features suggest an underlying monoclonal process.
CFP1-mediated H3K4me3 broad domains control early B cell lineage fate determination.
The histone H3K4me3 broad domain (BD) is a unique epigenetic feature marking cell identity-associated genes, but its physiological role in lineage differentiation remains unclear. Here we show that CFP1, an integral component of the Setd1A/B methyltransferase complex, is critically required for functional H3K4me3-BD installation and B cell fate determination. Cfp1 deletion impairs H3K4me3-BDs on a subset of B lineage genes and redistributes H3K4me3 from active genes to bivalent promoters. Transcription of subsets of the H3K4me3-BD-bound genes is diminished in part due to reduced RNA polymerase II at the promoter and gene body. Specifically, CFP1 ablation abolishes H3K4me3-BD at the recombination center and distal PAIR elements in the immunoglobulin heavy chain (IgH) gene, severely compromises its locus contraction for efficient V-to-DJ recombination, and consequently arrests cells at the pro-B stage. Moreover, Cfp1-deficient pro-B cells up-regulate a panel of progenitor and myeloid-specific genes with elevated H3K4me3 marks and can trans-differentiate into various myeloid cell types. Therefore, our study reveals pivotal roles for CFP1-mediated H3K4me3-BDs in the transcriptional regulation of cell lineage fate specification and commitment.
Tear Protein Alteration in Dogs with Keratoconjunctivitis Sicca.
Keratoconjunctivitis sicca (KCS) in dogs is an immune-mediated disorder characterized by aqueous tear deficiency, ocular surface inflammation, and risk of vision loss. Although tear quantity is routinely evaluated using the Schirmer tear test (STT), the accompanying qualitative alterations in tear protein composition remain poorly understood. In this exploratory study, we identified and characterized qualitatively differentially expressed tear proteins in samples collected from seven Beagle dogs with KCS and five healthy Beagles. Samples were collected using filter paper, extracted in phosphate-buffered saline, concentrated by trichloroacetic acid precipitation, and then separated via two-dimensional electrophoresis. Differential protein spots were identified by MALDI-TOF-MS-based peptide mass fingerprinting. Total protein concentrations were determined by measuring UV absorbance at 280 nm and were found to be significantly higher in dogs with KCS (30.7 ± 13.5 mg/mL) than in healthy dogs (11.5 ± 1.8 mg/mL, p < 0.05). Five proteins were identified as differentially expressed: serum albumin, lactotransferrin isoform 1, immunoglobulin gamma heavy chain C, major allergen Can f 1, and lysozyme C. High-molecular-weight proteins were upregulated in KCS, whereas low-molecular-weight proteins (<10 kDa, proline-rich protein-like components) were markedly reduced or absent. These compositional shifts suggest that KCS alters both the quantity and qualitative integrity of the tear proteosome, reflecting impaired tear film homeostasis and diminished ocular surface defense. The results support the potential utility of the tear proteome as a source of diagnostic and therapeutic biomarkers in canine KCS.
BAFF-R Expression as a Potential Biomarker Associated with COVID-19 Vaccine Non-Responsiveness in Antibody-Deficient Patients.
Patients with primary and secondary antibody deficiencies exhibit variable responses to vaccination, with many failing to mount optimal immunity to SARS-CoV-2. Mechanisms underpinning vaccine non-responsiveness remain poorly defined and unpredictable. We hypothesised that B-cell-intrinsic features are associated with SARS-CoV-2 vaccine failure. Peripheral B-cells from 49 patients enrolled in the COVID-19 in Antibody Deficiency (COV-AD) study underwent a validated in vitro B-cell differentiation assay. We assessed plasmablast and plasma cell (PC) generation, immunoglobulin production, immunoglobulin heavy chain (IGH) repertoire diversity, and BAFF-R expression. Vaccine non-responders displayed reduced IgA class-switched immunoglobulin production in vitro compared to healthy controls and responders. Moreover, while the relative percentage of PC output was comparable between groups, the overall number of cells obtained from non-responders was reduced. Most non-responders and a subset of responders exhibited reduced BAFF-R surface expression at baseline compared to healthy controls, though with considerable overlap between groups. BAFF-R transcript levels partially corresponded with surface expression but varied and did not clearly distinguish response. No compensatory upregulation of alternative BAFF receptors or elevated serum BAFF was observed. IGH repertoire analysis revealed preserved diversity among patients. Diminished BAFF-R expression is associated with vaccine non-responsiveness and may indicate underlying B-cell-intrinsic defects. BAFF-R shows potential as a candidate biomarker that merits further validation in larger, multicentre cohorts to determine its clinical utility for stratifying patients at risk of vaccine failure. These findings suggest that the BAFF/BAFF-R axis may play an important role in vaccine-induced humoral immunity in antibody-deficient patients, warranting further mechanistic investigation.
Characterization of a factor VIII/immunoglobulin heavy chain μ double-knockout mouse model of hemophilia A for long-term exposure to factor VIII proteins.
Deficiency of coagulation factor (F)VIII is the key characteristic of hemophilia A. The FVIII knockout mouse model is a valuable tool for investigating disease mechanisms and evaluating the pharmacokinetics (PK) and efficacy of therapeutic agents. However, its utility for long-term studies, particularly those focused on prophylaxis, is limited by the development of anti-FVIII antibodies following repeated FVIII administration. To develop a FVIII knockout model that does not generate antibodies against FVIII but is not severely immunosuppressed. Established FVIII single-knockout (FVIII-/-; SKO) mice were crossed with the immunoglobulin heavy chain μ (Ighm) knockout strain to generate FVIII/Ighm double-knockout (FVIII-/-/Ighm-/-; DKO) mice. Both SKO and DKO mice received 4 intravenous doses of recombinant human FVIII on days 0, 7, 14, and 21. Peripheral blood, bone marrow, and spleen samples were collected to assess (i) the immune response to FVIII, (ii) FVIII PK after repeated dosing, and (iii) overall immune status. DKO mice did not develop detectable anti-FVIII antibodies. The formation of FVIII-specific antibody-secreting cells was abrogated, and the presence of FVIII-specific T cells was substantially reduced. PK analysis performed after 3 weeks of FVIII exposure showed variable reductions in FVIII recovery and half-life in SKO mice. In contrast, PK parameters in DKO mice remained consistently within the expected physiological range. The DKO mouse model can be used for long-term studies of FVIII products and other hemostatic proteins, enabling the evaluation of repeated-dose PK and prophylactic efficacy without interference from inhibitor formation.
Publicações recentes
B-cell repertoire sequencing reveals frequent rearrangements of IGHD5-5 in patients with systemic sclerosis.
First-Line Treatment of IGHV-Unmutated Chronic Lymphocytic Leukemia: A Network Meta-Analysis of Targeted and Chemoimmunotherapy Regimens.
Outcomes of patients with CLL and borderline IGHV mutational status: a systematic review and meta analysis.
Comparative evaluation of two NGS-based assays for somatic hypermutation analysis of IGHV genes in chronic lymphocytic leukemia.
The APLC expert consensus recommendations on the management of chronic lymphocytic leukaemia in Asia.
📚 EuropePMCmostrando 191
Optimizing the Use of Serum Immunofixation for the Detection of Monoclonal Components in Hypogammaglobulinemia: Insights From a Tertiary-Care Biochemistry Laboratory.
CureusCFP1-mediated H3K4me3 broad domains control early B cell lineage fate determination.
Nucleic acids researchTear Protein Alteration in Dogs with Keratoconjunctivitis Sicca.
Animals : an open access journal from MDPIBAFF-R Expression as a Potential Biomarker Associated with COVID-19 Vaccine Non-Responsiveness in Antibody-Deficient Patients.
Clinical and experimental immunologyPrimary Humoral Immunodeficiencies and Bronchiectasis in Adults.
Journal of clinical medicineCharacterization of a factor VIII/immunoglobulin heavy chain μ double-knockout mouse model of hemophilia A for long-term exposure to factor VIII proteins.
Research and practice in thrombosis and haemostasisPolymerase theta repairs persistent G1-induced DNA breaks in S-phase during class switch recombination.
Nature communicationsIL-7 promotes the formation of DNA double strand breaks and DNA repair in murine pro-B cells.
Frontiers in immunology[The Relationship between Ig Class Switch Recombination and MMR Protein, Microsatellite Phenotype in Extranodal Marginal Zone Lymphoma of Mucosa-associated Lymphoid Tissue].
Zhongguo shi yan xue ye xue za zhiMembranous nephropathy as a segmental pattern with solitary immunoglobulin A deposition: a case report.
CEN case reportsIgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.
AllergyCST Is Epistatic With Shieldin to Limit DNA Double-Strand Break End Resection and Promote Repair During Igh Class Switch Recombination.
European journal of immunologyEffects of two different variants in the MAGT1 gene on B cell subsets, platelet function, and cell glycome composition.
Frontiers in immunologyGroup A streptococcal SpeB modifies IgA through targeting regions other than the hinge.
Microbiology spectrumProteomics Reveals That Vitamin D Deficiency Leads to Immunoglobulin Abnormalities and Immune Dysregulation in Patients with Post-COVID-19 Condition.
Journal of proteome researchDeficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.
The Journal of allergy and clinical immunologyHeavy Chain Disease with Cystic Lung Disease Presenting as Recurrent Spontaneous Pneumothorax in a Young Adult.
Acta medica LituanicaPapillary renal cell carcinoma revisited: impact of the World Health Organization 2022 classification on prognostication.
BJU internationalProgressive polyadenylation and m6A modification of Ighg1 mRNA maintain IgG1 antibody homeostasis in antibody-secreting cells.
ImmunityZn0-Induced Cytotoxicity and Mitochondrial Stress in Microglia: Implications of the Protective Role of Immunoglobulin G In Vitro.
Balkan medical journalUPF1 plays critical roles in early B cell development.
Nature communicationsKi67 deficiency impedes chromatin accessibility and BCR gene rearrangement.
The Journal of experimental medicineGeneration of nanobodies from transgenic 'LamaMice' lacking an endogenous immunoglobulin repertoire.
Nature communicationsQualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
Journal of clinical immunologyIdentification of WNK1 as a therapeutic target to suppress IgH/MYC expression in multiple myeloma.
Cell reportsB-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
ImmunogeneticsBRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.
Nucleic acids researchLycopene Alleviates Endoplasmic Reticulum Stress in Steatohepatitis through Inhibition of the ASK1-JNK Signaling Pathway.
Journal of agricultural and food chemistryInfluence of pre-B cell receptor deficiency on the immunoglobulin repertoires in peripheral blood B cells before and after immunization.
Molecular immunologyEndogenous complement-activating IgM is not required for primary antibody responses but promotes plasma cell differentiation and secondary antibody responses to a large particulate antigen in mice.
Frontiers in immunologySpliceosome component PHD finger 5A is essential for early B lymphopoiesis.
Development (Cambridge, England)Pozelimab: First Approval.
DrugsPlatelet-localized ST6Gal1 does not impact IgG sialylation.
GlycobiologyImpaired Response to Polysaccharide Vaccine in Selective IgE Deficiency.
Journal of clinical immunologyThe RNA-binding protein hnRNP F is required for the germinal center B cell response.
Nature communicationsClonal relationships of memory B cell subsets in autoimmune mice.
Frontiers in immunologyThe IgH Eµ-MAR regions promote UNG-dependent error-prone repair to optimize somatic hypermutation.
Frontiers in immunologySequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility.
Journal of clinical immunologyB-1 plasma cells require non-cognate CD4 T cell help to generate a unique repertoire of natural IgM.
The Journal of experimental medicineThe establishment of B cell-deficient Igh-J KO mouse model by gene editing and efficacy evaluation.
International immunopharmacologyThe CMV-encoded G protein-coupled receptors M33 and US28 play pleiotropic roles in immune evasion and alter host T cell responses.
Frontiers in immunologySenataxin and RNase H2 act redundantly to suppress genome instability during class switch recombination.
eLifeHuman type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.
The Journal of experimental medicineTwo pediatric oncologic cases of hypereosinophilic syndrome and review of the literature.
Cancer reports (Hoboken, N.J.)Development and characterization of a CRISPR/Cas9-mediated RAG1 knockout chicken model lacking mature B and T cells.
Frontiers in immunologyGlobal patterns of antigen receptor repertoire disruption across adaptive immune compartments in COVID-19.
Proceedings of the National Academy of Sciences of the United States of AmericaTNB-738, a biparatopic antibody, boosts intracellular NAD+ by inhibiting CD38 ecto-enzyme activity.
mAbsRole of EXO1 nuclease activity in genome maintenance, the immune response and tumor suppression in Exo1D173A mice.
Nucleic acids researchHypovitaminosis D Is Prevalent in Patients With Renal AL Amyloidosis and Associated With Renal Outcome.
Frontiers in endocrinologySHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination.
Nature communicationsRNA exosome drives early B cell development via noncoding RNA processing mechanisms.
Science immunologyThe mammalian SKIV2L RNA exosome is essential for early B cell development.
Science immunologyOrganization and Complexity of the Yak (Bos Grunniens) Immunoglobulin Loci.
Frontiers in immunologyHuman activation-induced deaminase lacks strong replicative strand bias or preference for cytosines in hairpin loops.
Nucleic acids researchAllergic asthma aggravates angiotensin Ⅱ-induced cardiac remodeling in mice.
Translational research : the journal of laboratory and clinical medicineIRF4 Has a Unique Role in Early B Cell Development and Acts Prior to CD21 Expression to Control Marginal Zone B Cell Numbers.
Frontiers in immunologyUnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus.
Frontiers in immunologyIntrathymic differentiation of natural antibody-producing plasma cells in human neonates.
Nature communicationsMannan-binding lectin deficiency augments hepatic endoplasmic reticulum stress through IP3R-controlled calcium release.
Cell calciumAging and Hypercholesterolemia Differentially Affect the Unfolded Protein Response in the Vasculature of ApoE-/- Mice.
Journal of the American Heart AssociationImmunoglobulin A nephropathy in a patient with an MYH9 -related disorder.
Pediatrics international : official journal of the Japan Pediatric SocietyFcγ receptor activation mediates vascular inflammation and abdominal aortic aneurysm development.
Clinical and translational medicineEffect of Clp protease from Corynebacterium glutamicum on heterologous protein expression.
Protein expression and purificationNormal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.
Journal of clinical immunologyIncorporation of TePhe into Expressed Proteins is Minimally Perturbing.
Chembiochem : a European journal of chemical biologyThe Traf2DNxBCL2-tg Mouse Model of Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Recapitulates the Biased IGHV Gene Usage, Stereotypy, and Antigen-Specific HCDR3 Selection of Its Human Counterpart.
Frontiers in immunologyConsensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.
Current oncology (Toronto, Ont.)Deficiency of WFS1 leads to the impairment of AVP secretion under dehydration in male mice.
PituitaryPolymorphisms in canine immunoglobulin heavy chain gene cluster: a double-edged sword for diabetes mellitus in the dog.
Animal geneticsNoncoding RNA processing by DIS3 regulates chromosomal architecture and somatic hypermutation in B cells.
Nature geneticsLoop extrusion mediates physiological Igh locus contraction for RAG scanning.
NatureSalivary Carbohydrate-Deficient Transferrin in Alcohol- and Nicotine-Dependent Males.
Journal of clinical medicineAssigning immunoglobulin class from single-cell transcriptomes in IgA1-secreting versus membrane subpopulations.
BioTechniquesCtIP-mediated DNA resection is dispensable for IgH class switch recombination by alternative end-joining.
Proceedings of the National Academy of Sciences of the United States of AmericaPrognostic models for newly-diagnosed chronic lymphocytic leukaemia in adults: a systematic review and meta-analysis.
The Cochrane database of systematic reviewsAn RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Journal of clinical immunologyControl of Early B Cell Development by the RNA N6-Methyladenosine Methylation.
Cell reportsClass switching and high-affinity immunoglobulin G production by B cells is dispensable for the development of hypertension in mice.
Cardiovascular researchImpact of T-cell receptor and B-cell receptor repertoire on the recurrence of early stage lung adenocarcinoma.
Experimental cell researchRNA-binding motifs of hnRNP K are critical for induction of antibody diversification by activation-induced cytidine deaminase.
Proceedings of the National Academy of Sciences of the United States of AmericaNoncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination.
Science immunologyTargeting CD38-Expressing Multiple Myeloma and Burkitt Lymphoma Cells In Vitro with Nanobody-Based Chimeric Antigen Receptors (Nb-CARs).
CellsB Cell and CD4 T Cell Interactions Promote Development of Atherosclerosis.
Frontiers in immunologyGamma heavy chain disease (γ-HCD) as iatrogenic immunodeficiency- associated lymphoproliferative disorder: Possible emergent subtype of rheumatoid arthritis-associated γ-HCD.
Journal of clinical and experimental hematopathology : JCEHDelineating Human B Cell Precursor Development With Genetically Identified PID Cases as a Model.
Frontiers in immunologyERG Controls B Cell Development by Promoting Igh V-to-DJ Recombination.
Cell reportsIn Vivo Analysis of Human Immune Responses in Immunodeficient Rats.
TransplantationHeavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.
American journal of kidney diseases : the official journal of the National Kidney FoundationFundamental roles of chromatin loop extrusion in antibody class switching.
NatureSupplementation With the Sialic Acid Precursor N-Acetyl-D-Mannosamine Breaks the Link Between Obesity and Hypertension.
CirculationDisruption of the preB Cell Receptor Complex Leads to Decreased Bone Mass.
Frontiers in immunologyEuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.
Frontiers in immunologyChromosome dynamics near the sol-gel phase transition dictate the timing of remote genomic interactions.
Nature communicationsPrognostic markers for immunodeficiency-associated primary central nervous system lymphoma.
Journal of neuro-oncologyMZB1 promotes the secretion of J-chain-containing dimeric IgA and is critical for the suppression of gut inflammation.
Proceedings of the National Academy of Sciences of the United States of AmericaThe Heterogeneous Pathogenesis of Selective Immunoglobulin A Deficiency.
International archives of allergy and immunologyIL1R8 Deficiency Drives Autoimmunity-Associated Lymphoma Development.
Cancer immunology researchPten controls B-cell responsiveness and germinal center reaction by regulating the expression of IgD BCR.
The EMBO journalApurinic/apyrimidinic endonuclease 1 (APE1) is dispensable for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation in the immunoglobulin gene.
International immunologyDefects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.
The Journal of allergy and clinical immunologyWill Attention by Vaccine Developers to the Host's Nuclear Hormone Levels and Immunocompetence Improve Vaccine Success?
VaccinesSkewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency.
Scandinavian journal of immunologyImpaired Expression of Rearranged Immunoglobulin Genes and Premature p53 Activation Block B Cell Development in BMI1 Null Mice.
Cell reports3'Igh enhancers hs3b/hs4 are dispensable for Myc deregulation in mouse plasmacytomas with T(12;15) translocations.
OncotargetThe circulating immunoglobulins negatively impact on the parasite clearance in the liver of Leishmania donovani-infected mice via dampening ROS activity.
Biochemical and biophysical research communications3'RR and 5'Eμ immunoglobulin heavy chain enhancers are independent engines of locus remodeling.
Cellular & molecular immunologyThe Chromatin Reader ZMYND8 Regulates Igh Enhancers to Promote Immunoglobulin Class Switch Recombination.
Molecular cellDeletion of Adam6 in Mus musculus leads to male subfertility and deficits in sperm ascent into the oviduct.
Biology of reproductionIdentification of Distinct Unmutated Chronic Lymphocytic Leukemia Subsets in Mice Based on Their T Cell Dependency.
Frontiers in immunologyComparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.
The journal of allergy and clinical immunology. In practiceDeletion of the immunoglobulin heavy chain 3' regulatory region super-enhancer affects somatic hypermutation in B1 B cells.
Cellular & molecular immunologyNo Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Frontiers in immunologyIL-7 Enables Antibody Responses to Bacterial Polysaccharides by Promoting B Cell Receptor Diversity.
Journal of immunology (Baltimore, Md. : 1950)IgA kappa light and heavy chain deposition disease in multiple myeloma.
British journal of haematologyCTCF-Binding Elements Mediate Accessibility of RAG Substrates During Chromatin Scanning.
CellMyosin IIa Promotes Antibody Responses by Regulating B Cell Activation, Acquisition of Antigen, and Proliferation.
Cell reportsRecombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
The Journal of allergy and clinical immunologyRNA Helicase DDX1 Converts RNA G-Quadruplex Structures into R-Loops to Promote IgH Class Switch Recombination.
Molecular cellDiversity of Immunoglobulin (Ig) Isotypes and the Role of Activation-Induced Cytidine Deaminase (AID) in Fish.
Molecular biotechnologyHuman Immunodeficiency Virus Tat Protein Aids V Region Somatic Hypermutation in Human B Cells.
mBioMolecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.
The Biochemical journalDNA double-strand break response factors influence end-joining features of IgH class switch and general translocation junctions.
Proceedings of the National Academy of Sciences of the United States of AmericaAge-associated B cells expanded in autoimmune mice are memory cells sharing H-CDR3-selected repertoires.
European journal of immunologyDistorted antibody repertoire developed in the absence of pre-B cell receptor formation.
Biochemical and biophysical research communicationsPhosphorylation promotes activation-induced cytidine deaminase activity at the Myc oncogene.
The Journal of experimental medicineCCCTC-Binding Factor Locks Premature IgH Germline Transcription and Restrains Class Switch Recombination.
Frontiers in immunologyA murine Ig light chain transgene reveals IGKV3 gene contributions to anti-collagen types IV and II specificities.
Molecular immunology[Colombian Guidelines of clinical practice for the use of immunoglobulins in the treatment of replacement and immunomodulation].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Altered marginal zone and innate-like B cells in aged senescence-accelerated SAMP8 mice with defective IgG1 responses.
Cell death & diseaseCaveolin-1-dependent nanoscale organization of the BCR regulates B cell tolerance.
Nature immunologyCharacterization of T and B cell repertoire diversity in patients with RAG deficiency.
Science immunologysIgM-FcμR Interactions Regulate Early B Cell Activation and Plasma Cell Development after Influenza Virus Infection.
Journal of immunology (Baltimore, Md. : 1950)Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.
The Journal of investigative dermatologyFirst report of real-time monitoring of coagulation function potential and IgG subtype of anti-FVIII autoantibodies in a child with acquired hemophilia A associated with streptococcal infection and amoxicillin.
International journal of hematologyAn Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts.
Frontiers in immunologyB cells do not have a major pathophysiologic role in acute ischemic stroke in mice.
Journal of neuroinflammationSelf-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.
The Journal of experimental medicineCD11b regulates antibody class switching via induction of AID.
Molecular immunologyImmunoglobulin M, a novel molecule of myocardial cells of mice.
The international journal of biochemistry & cell biologyEμ and 3'RR IgH enhancers show hierarchic unilateral dependence in mature B-cells.
Scientific reportsPhosphatidylinositol 3-kinase δ blockade increases genomic instability in B cells.
Nature53BP1 Contributes to Igh Locus Chromatin Topology during Class Switch Recombination.
Journal of immunology (Baltimore, Md. : 1950)VH1 Family Immunoglobulin Repertoire Sequencing after Allogeneic Hematopoietic Stem Cell Transplantation.
PloS onePro-B cells propagated in stromal cell-free cultures reconstitute functional B-cell compartments in immunodeficient mice.
European journal of immunologyConversion of T cells to B cells by inactivation of polycomb-mediated epigenetic suppression of the B-lineage program.
Genes & developmentSomatic Mutations Modulate Autoantibodies against Galactose-Deficient IgA1 in IgA Nephropathy.
Journal of the American Society of Nephrology : JASNMBD4 Facilitates Immunoglobulin Class Switch Recombination.
Molecular and cellular biologyRegulated large-scale nucleosome density patterns and precise nucleosome positioning correlate with V(D)J recombination.
Proceedings of the National Academy of Sciences of the United States of AmericaEfficient role of IgH 3' regulatory region deficient B-cells in the development of oil granulomas.
OncotargetAntigen presentation by B cells guides programing of memory CD4+ T-cell responses to a TLR4-agonist containing vaccine in mice.
European journal of immunologyGata3 restrains B cell proliferation and cooperates with p18INK4c to repress B cell lymphomagenesis.
OncotargetClathrin light chains' role in selective endocytosis influences antibody isotype switching.
Proceedings of the National Academy of Sciences of the United States of AmericaImmunoglobulin A nephropathy: a pathophysiology view.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Interferon regulatory factor 4 attenuates Notch signaling to suppress the development of chronic lymphocytic leukemia.
OncotargetYY1 Is Required for Germinal Center B Cell Development.
PloS oneGermline Gene Editing in Chickens by Efficient CRISPR-Mediated Homologous Recombination in Primordial Germ Cells.
PloS oneIdentification of Liver Epithelial Cell-derived Ig Expression in μ chain-deficient mice.
Scientific reportsGNA13 loss in germinal center B cells leads to impaired apoptosis and promotes lymphoma in vivo.
BloodSoluble B-Cell Maturation Antigen Mediates Tumor-Induced Immune Deficiency in Multiple Myeloma.
Clinical cancer research : an official journal of the American Association for Cancer ResearchCohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.
Expert review of clinical immunologyMediator facilitates transcriptional activation and dynamic long-range contacts at the IgH locus during class switch recombination.
The Journal of experimental medicineAntibodies from donor B cells perpetuate cutaneous chronic graft-versus-host disease in mice.
BloodImmunoglobulin K light chain deficiency: A rare, but probably underestimated, humoral immune defect.
European journal of medical geneticsB-Cell-Deficient and CD8 T-Cell-Depleted Gnotobiotic Pigs for the Study of Human Rotavirus Vaccine-Induced Protective Immune Responses.
Viral immunologyPrevalence and characteristics of central nervous system involvement by chronic lymphocytic leukemia.
HaematologicaNon-canonical uracil processing in DNA gives rise to double-strand breaks and deletions: relevance to class switch recombination.
Nucleic acids researchHotspots for Vitamin-Steroid-Thyroid Hormone Response Elements Within Switch Regions of Immunoglobulin Heavy Chain Loci Predict a Direct Influence of Vitamins and Hormones on B Cell Class Switch Recombination.
Viral immunologyCombined deletion of Xrcc4 and Trp53 in mouse germinal center B cells leads to novel B cell lymphomas with clonal heterogeneity.
Journal of hematology & oncologyB cell development in chromosome 22q11.2 deletion syndrome.
Clinical immunology (Orlando, Fla.)Isolation and Characterization of a Murine Spontaneous High-Grade Follicular Lymphoma with Restricted In Vivo Spreading--a Model for Lymphatic Metastasis Via the Mesentery.
Pathology oncology research : PORAtherosclerosis Susceptibility in Mice Is Independent of the V1 Immunoglobulin Heavy Chain Gene.
Arteriosclerosis, thrombosis, and vascular biologyIdentification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.
The Journal of allergy and clinical immunologyAnalysis of IgM antibody production and repertoire in a mouse model of Sjögren's syndrome.
Journal of leukocyte biologyGeneration of B cell-deficient pigs by highly efficient CRISPR/Cas9-mediated gene targeting.
Journal of genetics and genomics = Yi chuan xue baoPatient-derived heavy chain antibody targets cell surface HSP90 on breast tumors.
BMC cancerIndole-3-Carbinol Synergizes with and Restores Fludarabine Sensitivity in Chronic Lymphocytic Leukemia Cells Irrespective of p53 Activity and Treatment Resistances.
Clinical cancer research : an official journal of the American Association for Cancer ResearchB Cell-Intrinsic Expression of the HuR RNA-Binding Protein Is Required for the T Cell-Dependent Immune Response In Vivo.
Journal of immunology (Baltimore, Md. : 1950)IgH sequences in common variable immune deficiency reveal altered B cell development and selection.
Science translational medicineEnabling Low Cost Biopharmaceuticals: A Systematic Approach to Delete Proteases from a Well-Known Protein Production Host Trichoderma reesei.
PloS oneHC-HA/PTX3 Purified From Amniotic Membrane Promotes BMP Signaling in Limbal Niche Cells to Maintain Quiescence of Limbal Epithelial Progenitor/Stem Cells.
Stem cells (Dayton, Ohio)Paraproteinemic Keratopathy: The Expanding Diversity of Clinical and Pathologic Manifestations.
OphthalmologyDe novo DNA Methyltransferases Dnmt3a and Dnmt3b regulate the onset of Igκ light chain rearrangement during early B-cell development.
European journal of immunologyBruton's Tyrosine Kinase Synergizes with Notch2 To Govern Marginal Zone B Cells in Nonobese Diabetic Mice.
Journal of immunology (Baltimore, Md. : 1950)The IgH 3' regulatory region influences lymphomagenesis in Igλ-Myc mice.
OncotargetElucidation of IgH 3' region regulatory role during class switch recombination via germline deletion.
Nature communicationsIdentification of DNA cleavage- and recombination-specific hnRNP cofactors for activation-induced cytidine deaminase.
Proceedings of the National Academy of Sciences of the United States of AmericaB cell Rab7 mediates induction of activation-induced cytidine deaminase expression and class-switching in T-dependent and T-independent antibody responses.
Journal of immunology (Baltimore, Md. : 1950)Epstein-Barr virus-positive diffuse large B-cell lymphoma in children: a disease reminiscent of Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly.
Human pathologyCamelid single-domain antibody fragments: Uses and prospects to investigate protein misfolding and aggregation, and to treat diseases associated with these phenomena.
BiochimieHistone acetyltransferase p300/CBP-associated factor is an effective suppressor of secretory immunoglobulin synthesis in immature B cells.
Microbiology and immunologyMolecular basis for antagonistic activity of anifrolumab, an anti-interferon-α receptor 1 antibody.
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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.
- Optimizing the Use of Serum Immunofixation for the Detection of Monoclonal Components in Hypogammaglobulinemia: Insights From a Tertiary-Care Biochemistry Laboratory.
- CFP1-mediated H3K4me3 broad domains control early B cell lineage fate determination.
- Tear Protein Alteration in Dogs with Keratoconjunctivitis Sicca.
- BAFF-R Expression as a Potential Biomarker Associated with COVID-19 Vaccine Non-Responsiveness in Antibody-Deficient Patients.
- Characterization of a factor VIII/immunoglobulin heavy chain μ double-knockout mouse model of hemophilia A for long-term exposure to factor VIII proteins.
- B-cell repertoire sequencing reveals frequent rearrangements of IGHD5-5 in patients with systemic sclerosis.
- First-Line Treatment of IGHV-Unmutated Chronic Lymphocytic Leukemia: A Network Meta-Analysis of Targeted and Chemoimmunotherapy Regimens.
- Outcomes of patients with CLL and borderline IGHV mutational status: a systematic review and meta analysis.
- Comparative evaluation of two NGS-based assays for somatic hypermutation analysis of IGHV genes in chronic lymphocytic leukemia.
- The APLC expert consensus recommendations on the management of chronic lymphocytic leukaemia in Asia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:169110(Orphanet)
- MONDO:0015697(MONDO)
- GARD:20111(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785651(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