Raras
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Deficiência de cadeias pesadas da imunoglobulina
ORPHA:169110CID-10 · D80.8CID-11 · 4A01.04DOENÇA RARA

O cromossoma 14 é um dos 23 pares de cromossomas do cariótipo humano.

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Introdução

O que você precisa saber de cara

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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.

Publicações científicas
5.846 artigos
Último publicado: 2026 Apr 15
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CID-10: D80.8
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Optimizing the Use of Serum Immunofixation for the Detection of Monoclonal Components in Hypogammaglobulinemia: Insights From a Tertiary-Care Biochemistry Laboratory.

Cureus2026 Jan

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.

#2

CFP1-mediated H3K4me3 broad domains control early B cell lineage fate determination.

Nucleic acids research2026 Feb 05

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.

#3

Tear Protein Alteration in Dogs with Keratoconjunctivitis Sicca.

Animals : an open access journal from MDPI2026 Jan 06

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.

#4

BAFF-R Expression as a Potential Biomarker Associated with COVID-19 Vaccine Non-Responsiveness in Antibody-Deficient Patients.

Clinical and experimental immunology2026 Jan 20

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.

#5

Characterization 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 haemostasis2026 Jan

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

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📚 EuropePMCmostrando 191

2026

Optimizing the Use of Serum Immunofixation for the Detection of Monoclonal Components in Hypogammaglobulinemia: Insights From a Tertiary-Care Biochemistry Laboratory.

Cureus
2026

CFP1-mediated H3K4me3 broad domains control early B cell lineage fate determination.

Nucleic acids research
2026

Tear Protein Alteration in Dogs with Keratoconjunctivitis Sicca.

Animals : an open access journal from MDPI
2026

BAFF-R Expression as a Potential Biomarker Associated with COVID-19 Vaccine Non-Responsiveness in Antibody-Deficient Patients.

Clinical and experimental immunology
2025

Primary Humoral Immunodeficiencies and Bronchiectasis in Adults.

Journal of clinical medicine
2026

Characterization 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 haemostasis
2025

Polymerase theta repairs persistent G1-induced DNA breaks in S-phase during class switch recombination.

Nature communications
2025

IL-7 promotes the formation of DNA double strand breaks and DNA repair in murine pro-B cells.

Frontiers in immunology
2025

[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 zhi
2025

Membranous nephropathy as a segmental pattern with solitary immunoglobulin A deposition: a case report.

CEN case reports
2025

IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.

Allergy
2025

CST Is Epistatic With Shieldin to Limit DNA Double-Strand Break End Resection and Promote Repair During Igh Class Switch Recombination.

European journal of immunology
2025

Effects of two different variants in the MAGT1 gene on B cell subsets, platelet function, and cell glycome composition.

Frontiers in immunology
2025

Group A streptococcal SpeB modifies IgA through targeting regions other than the hinge.

Microbiology spectrum
2025

Proteomics Reveals That Vitamin D Deficiency Leads to Immunoglobulin Abnormalities and Immune Dysregulation in Patients with Post-COVID-19 Condition.

Journal of proteome research
2025

Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.

The Journal of allergy and clinical immunology
2025

Heavy Chain Disease with Cystic Lung Disease Presenting as Recurrent Spontaneous Pneumothorax in a Young Adult.

Acta medica Lituanica
2025

Papillary renal cell carcinoma revisited: impact of the World Health Organization 2022 classification on prognostication.

BJU international
2024

Progressive polyadenylation and m6A modification of Ighg1 mRNA maintain IgG1 antibody homeostasis in antibody-secreting cells.

Immunity
2024

Zn0-Induced Cytotoxicity and Mitochondrial Stress in Microglia: Implications of the Protective Role of Immunoglobulin G In Vitro.

Balkan medical journal
2024

UPF1 plays critical roles in early B cell development.

Nature communications
2024

Ki67 deficiency impedes chromatin accessibility and BCR gene rearrangement.

The Journal of experimental medicine
2024

Generation of nanobodies from transgenic 'LamaMice' lacking an endogenous immunoglobulin repertoire.

Nature communications
2024

Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.

Journal of clinical immunology
2024

Identification of WNK1 as a therapeutic target to suppress IgH/MYC expression in multiple myeloma.

Cell reports
2024

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Immunogenetics
2024

BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.

Nucleic acids research
2024

Lycopene Alleviates Endoplasmic Reticulum Stress in Steatohepatitis through Inhibition of the ASK1-JNK Signaling Pathway.

Journal of agricultural and food chemistry
2024

Influence of pre-B cell receptor deficiency on the immunoglobulin repertoires in peripheral blood B cells before and after immunization.

Molecular immunology
2023

Endogenous 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 immunology
2024

Spliceosome component PHD finger 5A is essential for early B lymphopoiesis.

Development (Cambridge, England)
2023

Pozelimab: First Approval.

Drugs
2023

Platelet-localized ST6Gal1 does not impact IgG sialylation.

Glycobiology
2023

Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency.

Journal of clinical immunology
2023

The RNA-binding protein hnRNP F is required for the germinal center B cell response.

Nature communications
2023

Clonal relationships of memory B cell subsets in autoimmune mice.

Frontiers in immunology
2023

The IgH Eµ-MAR regions promote UNG-dependent error-prone repair to optimize somatic hypermutation.

Frontiers in immunology
2023

Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility.

Journal of clinical immunology
2023

B-1 plasma cells require non-cognate CD4 T cell help to generate a unique repertoire of natural IgM.

The Journal of experimental medicine
2023

The establishment of B cell-deficient Igh-J KO mouse model by gene editing and efficacy evaluation.

International immunopharmacology
2022

The CMV-encoded G protein-coupled receptors M33 and US28 play pleiotropic roles in immune evasion and alter host T cell responses.

Frontiers in immunology
2022

Senataxin and RNase H2 act redundantly to suppress genome instability during class switch recombination.

eLife
2023

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.

The Journal of experimental medicine
2022

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature.

Cancer reports (Hoboken, N.J.)
2022

Development and characterization of a CRISPR/Cas9-mediated RAG1 knockout chicken model lacking mature B and T cells.

Frontiers in immunology
2022

Global 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 America
2022

TNB-738, a biparatopic antibody, boosts intracellular NAD+ by inhibiting CD38 ecto-enzyme activity.

mAbs
2022

Role of EXO1 nuclease activity in genome maintenance, the immune response and tumor suppression in Exo1D173A mice.

Nucleic acids research
2022

Hypovitaminosis D Is Prevalent in Patients With Renal AL Amyloidosis and Associated With Renal Outcome.

Frontiers in endocrinology
2022

SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination.

Nature communications
2022

RNA exosome drives early B cell development via noncoding RNA processing mechanisms.

Science immunology
2022

The mammalian SKIV2L RNA exosome is essential for early B cell development.

Science immunology
2022

Organization and Complexity of the Yak (Bos Grunniens) Immunoglobulin Loci.

Frontiers in immunology
2022

Human activation-induced deaminase lacks strong replicative strand bias or preference for cytosines in hairpin loops.

Nucleic acids research
2022

Allergic asthma aggravates angiotensin Ⅱ-induced cardiac remodeling in mice.

Translational research : the journal of laboratory and clinical medicine
2021

IRF4 Has a Unique Role in Early B Cell Development and Acts Prior to CD21 Expression to Control Marginal Zone B Cell Numbers.

Frontiers in immunology
2021

UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus.

Frontiers in immunology
2021

Intrathymic differentiation of natural antibody-producing plasma cells in human neonates.

Nature communications
2021

Mannan-binding lectin deficiency augments hepatic endoplasmic reticulum stress through IP3R-controlled calcium release.

Cell calcium
2021

Aging and Hypercholesterolemia Differentially Affect the Unfolded Protein Response in the Vasculature of ApoE-/- Mice.

Journal of the American Heart Association
2021

Immunoglobulin A nephropathy in a patient with an MYH9 -related disorder.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Fcγ receptor activation mediates vascular inflammation and abdominal aortic aneurysm development.

Clinical and translational medicine
2022

Effect of Clp protease from Corynebacterium glutamicum on heterologous protein expression.

Protein expression and purification
2021

Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.

Journal of clinical immunology
2021

Incorporation of TePhe into Expressed Proteins is Minimally Perturbing.

Chembiochem : a European journal of chemical biology
2021

The 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 immunology
2021

Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.

Current oncology (Toronto, Ont.)
2021

Deficiency of WFS1 leads to the impairment of AVP secretion under dehydration in male mice.

Pituitary
2021

Polymorphisms in canine immunoglobulin heavy chain gene cluster: a double-edged sword for diabetes mellitus in the dog.

Animal genetics
2021

Noncoding RNA processing by DIS3 regulates chromosomal architecture and somatic hypermutation in B cells.

Nature genetics
2021

Loop extrusion mediates physiological Igh locus contraction for RAG scanning.

Nature
2020

Salivary Carbohydrate-Deficient Transferrin in Alcohol- and Nicotine-Dependent Males.

Journal of clinical medicine
2021

Assigning immunoglobulin class from single-cell transcriptomes in IgA1-secreting versus membrane subpopulations.

BioTechniques
2020

CtIP-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 America
2020

Prognostic models for newly-diagnosed chronic lymphocytic leukaemia in adults: a systematic review and meta-analysis.

The Cochrane database of systematic reviews
2020

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.

Journal of clinical immunology
2020

Control of Early B Cell Development by the RNA N6-Methyladenosine Methylation.

Cell reports
2021

Class switching and high-affinity immunoglobulin G production by B cells is dispensable for the development of hypertension in mice.

Cardiovascular research
2020

Impact of T-cell receptor and B-cell receptor repertoire on the recurrence of early stage lung adenocarcinoma.

Experimental cell research
2020

RNA-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 America
2020

Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination.

Science immunology
2020

Targeting CD38-Expressing Multiple Myeloma and Burkitt Lymphoma Cells In Vitro with Nanobody-Based Chimeric Antigen Receptors (Nb-CARs).

Cells
2019

B Cell and CD4 T Cell Interactions Promote Development of Atherosclerosis.

Frontiers in immunology
2019

Gamma 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 : JCEH
2019

Delineating Human B Cell Precursor Development With Genetically Identified PID Cases as a Model.

Frontiers in immunology
2019

ERG Controls B Cell Development by Promoting Igh V-to-DJ Recombination.

Cell reports
2020

In Vivo Analysis of Human Immune Responses in Immunodeficient Rats.

Transplantation
2020

Heavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2019

Fundamental roles of chromatin loop extrusion in antibody class switching.

Nature
2019

Supplementation With the Sialic Acid Precursor N-Acetyl-D-Mannosamine Breaks the Link Between Obesity and Hypertension.

Circulation
2019

Disruption of the preB Cell Receptor Complex Leads to Decreased Bone Mass.

Frontiers in immunology
2019

EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.

Frontiers in immunology
2019

Chromosome dynamics near the sol-gel phase transition dictate the timing of remote genomic interactions.

Nature communications
2019

Prognostic markers for immunodeficiency-associated primary central nervous system lymphoma.

Journal of neuro-oncology
2019

MZB1 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 America
2019

The Heterogeneous Pathogenesis of Selective Immunoglobulin A Deficiency.

International archives of allergy and immunology
2019

IL1R8 Deficiency Drives Autoimmunity-Associated Lymphoma Development.

Cancer immunology research
2019

Pten controls B-cell responsiveness and germinal center reaction by regulating the expression of IgD BCR.

The EMBO journal
2019

Apurinic/apyrimidinic endonuclease 1 (APE1) is dispensable for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation in the immunoglobulin gene.

International immunology
2019

Defects 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 immunology
2019

Will Attention by Vaccine Developers to the Host's Nuclear Hormone Levels and Immunocompetence Improve Vaccine Success?

Vaccines
2019

Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency.

Scandinavian journal of immunology
2019

Impaired Expression of Rearranged Immunoglobulin Genes and Premature p53 Activation Block B Cell Development in BMI1 Null Mice.

Cell reports
2018

3'Igh enhancers hs3b/hs4 are dispensable for Myc deregulation in mouse plasmacytomas with T(12;15) translocations.

Oncotarget
2018

The circulating immunoglobulins negatively impact on the parasite clearance in the liver of Leishmania donovani-infected mice via dampening ROS activity.

Biochemical and biophysical research communications
2019

3'RR and 5'Eμ immunoglobulin heavy chain enhancers are independent engines of locus remodeling.

Cellular &amp; molecular immunology
2018

The Chromatin Reader ZMYND8 Regulates Igh Enhancers to Promote Immunoglobulin Class Switch Recombination.

Molecular cell
2019

Deletion of Adam6 in Mus musculus leads to male subfertility and deficits in sperm ascent into the oviduct.

Biology of reproduction
2018

Identification of Distinct Unmutated Chronic Lymphocytic Leukemia Subsets in Mice Based on Their T Cell Dependency.

Frontiers in immunology
2019

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

The journal of allergy and clinical immunology. In practice
2019

Deletion of the immunoglobulin heavy chain 3' regulatory region super-enhancer affects somatic hypermutation in B1 B cells.

Cellular &amp; molecular immunology
2018

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Frontiers in immunology
2018

IL-7 Enables Antibody Responses to Bacterial Polysaccharides by Promoting B Cell Receptor Diversity.

Journal of immunology (Baltimore, Md. : 1950)
2018

IgA kappa light and heavy chain deposition disease in multiple myeloma.

British journal of haematology
2018

CTCF-Binding Elements Mediate Accessibility of RAG Substrates During Chromatin Scanning.

Cell
2018

Myosin IIa Promotes Antibody Responses by Regulating B Cell Activation, Acquisition of Antigen, and Proliferation.

Cell reports
2019

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

The Journal of allergy and clinical immunology
2018

RNA Helicase DDX1 Converts RNA G-Quadruplex Structures into R-Loops to Promote IgH Class Switch Recombination.

Molecular cell
2018

Diversity of Immunoglobulin (Ig) Isotypes and the Role of Activation-Induced Cytidine Deaminase (AID) in Fish.

Molecular biotechnology
2018

Human Immunodeficiency Virus Tat Protein Aids V Region Somatic Hypermutation in Human B Cells.

mBio
2018

Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.

The Biochemical journal
2018

DNA 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 America
2018

Age-associated B cells expanded in autoimmune mice are memory cells sharing H-CDR3-selected repertoires.

European journal of immunology
2018

Distorted antibody repertoire developed in the absence of pre-B cell receptor formation.

Biochemical and biophysical research communications
2017

Phosphorylation promotes activation-induced cytidine deaminase activity at the Myc oncogene.

The Journal of experimental medicine
2017

CCCTC-Binding Factor Locks Premature IgH Germline Transcription and Restrains Class Switch Recombination.

Frontiers in immunology
2017

A murine Ig light chain transgene reveals IGKV3 gene contributions to anti-collagen types IV and II specificities.

Molecular immunology
2017

[Colombian Guidelines of clinical practice for the use of immunoglobulins in the treatment of replacement and immunomodulation].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2017

Altered marginal zone and innate-like B cells in aged senescence-accelerated SAMP8 mice with defective IgG1 responses.

Cell death &amp; disease
2017

Caveolin-1-dependent nanoscale organization of the BCR regulates B cell tolerance.

Nature immunology
2016

Characterization of T and B cell repertoire diversity in patients with RAG deficiency.

Science immunology
2017

sIgM-FcμR Interactions Regulate Early B Cell Activation and Plasma Cell Development after Influenza Virus Infection.

Journal of immunology (Baltimore, Md. : 1950)
2017

Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.

The Journal of investigative dermatology
2018

First 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 hematology
2017

An Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts.

Frontiers in immunology
2017

B cells do not have a major pathophysiologic role in acute ischemic stroke in mice.

Journal of neuroinflammation
2017

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

The Journal of experimental medicine
2017

CD11b regulates antibody class switching via induction of AID.

Molecular immunology
2017

Immunoglobulin M, a novel molecule of myocardial cells of mice.

The international journal of biochemistry &amp; cell biology
2017

Eμ and 3'RR IgH enhancers show hierarchic unilateral dependence in mature B-cells.

Scientific reports
2017

Phosphatidylinositol 3-kinase δ blockade increases genomic instability in B cells.

Nature
2017

53BP1 Contributes to Igh Locus Chromatin Topology during Class Switch Recombination.

Journal of immunology (Baltimore, Md. : 1950)
2017

VH1 Family Immunoglobulin Repertoire Sequencing after Allogeneic Hematopoietic Stem Cell Transplantation.

PloS one
2017

Pro-B cells propagated in stromal cell-free cultures reconstitute functional B-cell compartments in immunodeficient mice.

European journal of immunology
2016

Conversion of T cells to B cells by inactivation of polycomb-mediated epigenetic suppression of the B-lineage program.

Genes &amp; development
2016

Somatic Mutations Modulate Autoantibodies against Galactose-Deficient IgA1 in IgA Nephropathy.

Journal of the American Society of Nephrology : JASN
2017

MBD4 Facilitates Immunoglobulin Class Switch Recombination.

Molecular and cellular biology
2016

Regulated 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 America
2016

Efficient role of IgH 3' regulatory region deficient B-cells in the development of oil granulomas.

Oncotarget
2016

Antigen presentation by B cells guides programing of memory CD4+ T-cell responses to a TLR4-agonist containing vaccine in mice.

European journal of immunology
2016

Gata3 restrains B cell proliferation and cooperates with p18INK4c to repress B cell lymphomagenesis.

Oncotarget
2016

Clathrin light chains' role in selective endocytosis influences antibody isotype switching.

Proceedings of the National Academy of Sciences of the United States of America
2016

Immunoglobulin A nephropathy: a pathophysiology view.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2016

Interferon regulatory factor 4 attenuates Notch signaling to suppress the development of chronic lymphocytic leukemia.

Oncotarget
2016

YY1 Is Required for Germinal Center B Cell Development.

PloS one
2016

Germline Gene Editing in Chickens by Efficient CRISPR-Mediated Homologous Recombination in Primordial Germ Cells.

PloS one
2016

Identification of Liver Epithelial Cell-derived Ig Expression in μ chain-deficient mice.

Scientific reports
2016

GNA13 loss in germinal center B cells leads to impaired apoptosis and promotes lymphoma in vivo.

Blood
2016

Soluble B-Cell Maturation Antigen Mediates Tumor-Induced Immune Deficiency in Multiple Myeloma.

Clinical cancer research : an official journal of the American Association for Cancer Research
2016

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Expert review of clinical immunology
2016

Mediator facilitates transcriptional activation and dynamic long-range contacts at the IgH locus during class switch recombination.

The Journal of experimental medicine
2016

Antibodies from donor B cells perpetuate cutaneous chronic graft-versus-host disease in mice.

Blood
2016

Immunoglobulin K light chain deficiency: A rare, but probably underestimated, humoral immune defect.

European journal of medical genetics
2016

B-Cell-Deficient and CD8 T-Cell-Depleted Gnotobiotic Pigs for the Study of Human Rotavirus Vaccine-Induced Protective Immune Responses.

Viral immunology
2016

Prevalence and characteristics of central nervous system involvement by chronic lymphocytic leukemia.

Haematologica
2016

Non-canonical uracil processing in DNA gives rise to double-strand breaks and deletions: relevance to class switch recombination.

Nucleic acids research
2016

Hotspots 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 immunology
2016

Combined deletion of Xrcc4 and Trp53 in mouse germinal center B cells leads to novel B cell lymphomas with clonal heterogeneity.

Journal of hematology &amp; oncology
2016

B cell development in chromosome 22q11.2 deletion syndrome.

Clinical immunology (Orlando, Fla.)
2016

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 : POR
2016

Atherosclerosis Susceptibility in Mice Is Independent of the V1 Immunoglobulin Heavy Chain Gene.

Arteriosclerosis, thrombosis, and vascular biology
2016

Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.

The Journal of allergy and clinical immunology
2016

Analysis of IgM antibody production and repertoire in a mouse model of Sjögren's syndrome.

Journal of leukocyte biology
2015

Generation of B cell-deficient pigs by highly efficient CRISPR/Cas9-mediated gene targeting.

Journal of genetics and genomics = Yi chuan xue bao
2015

Patient-derived heavy chain antibody targets cell surface HSP90 on breast tumors.

BMC cancer
2016

Indole-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 Research
2015

B 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)
2015

IgH sequences in common variable immune deficiency reveal altered B cell development and selection.

Science translational medicine
2015

Enabling Low Cost Biopharmaceuticals: A Systematic Approach to Delete Proteases from a Well-Known Protein Production Host Trichoderma reesei.

PloS one
2015

HC-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)
2015

Paraproteinemic Keratopathy: The Expanding Diversity of Clinical and Pathologic Manifestations.

Ophthalmology
2015

De novo DNA Methyltransferases Dnmt3a and Dnmt3b regulate the onset of Igκ light chain rearrangement during early B-cell development.

European journal of immunology
2015

Bruton's Tyrosine Kinase Synergizes with Notch2 To Govern Marginal Zone B Cells in Nonobese Diabetic Mice.

Journal of immunology (Baltimore, Md. : 1950)
2015

The IgH 3' regulatory region influences lymphomagenesis in Igλ-Myc mice.

Oncotarget
2015

Elucidation of IgH 3' region regulatory role during class switch recombination via germline deletion.

Nature communications
2015

Identification 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 America
2015

B 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)
2015

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 pathology
2015

Camelid single-domain antibody fragments: Uses and prospects to investigate protein misfolding and aggregation, and to treat diseases associated with these phenomena.

Biochimie
2015

Histone acetyltransferase p300/CBP-associated factor is an effective suppressor of secretory immunoglobulin synthesis in immature B cells.

Microbiology and immunology
2015

Molecular basis for antagonistic activity of anifrolumab, an anti-interferon-α receptor 1 antibody.

mAbs

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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.

  1. Optimizing the Use of Serum Immunofixation for the Detection of Monoclonal Components in Hypogammaglobulinemia: Insights From a Tertiary-Care Biochemistry Laboratory.
    Cureus· 2026· PMID 41769432mais citado
  2. CFP1-mediated H3K4me3 broad domains control early B cell lineage fate determination.
    Nucleic acids research· 2026· PMID 41728956mais citado
  3. Tear Protein Alteration in Dogs with Keratoconjunctivitis Sicca.
    Animals : an open access journal from MDPI· 2026· PMID 41594350mais citado
  4. BAFF-R Expression as a Potential Biomarker Associated with COVID-19 Vaccine Non-Responsiveness in Antibody-Deficient Patients.
    Clinical and experimental immunology· 2026· PMID 41559870mais citado
  5. Characterization of a factor VIII/immunoglobulin heavy chain &#x3bc; double-knockout mouse model of hemophilia A for long-term exposure to factor VIII proteins.
    Research and practice in thrombosis and haemostasis· 2026· PMID 41509547mais citado
  6. B-cell repertoire sequencing reveals frequent rearrangements of IGHD5-5 in patients with systemic sclerosis.
    Sci Rep· 2026· PMID 41986546recente
  7. First-Line Treatment of IGHV-Unmutated Chronic Lymphocytic Leukemia: A Network Meta-Analysis of Targeted and Chemoimmunotherapy Regimens.
    Eur J Haematol· 2026· PMID 41981887recente
  8. Outcomes of patients with CLL and borderline IGHV mutational status: a systematic review and meta analysis.
    Biomark Res· 2026· PMID 41964073recente
  9. Comparative evaluation of two NGS-based assays for somatic hypermutation analysis of IGHV genes in chronic lymphocytic leukemia.
    Blood Res· 2026· PMID 41941055recente
  10. The APLC expert consensus recommendations on the management of chronic lymphocytic leukaemia in Asia.
    Ann Acad Med Singap· 2026· PMID 41920799recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:169110(Orphanet)
  2. MONDO:0015697(MONDO)
  3. GARD:20111(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Compêndio · Raras BR

Deficiência de cadeias pesadas da imunoglobulina

ORPHA:169110 · MONDO:0015697
CID-10
D80.8 · Outras imunodeficiências com predominância de defeitos de anticorpos
CID-11
MedGen
UMLS
C0398692
Wikidata
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