Deficiência imunológica congênita autossômica dominante caracterizada por retenção anormal de neutrófilos maduros na medula óssea (mielcatexia) e hipogamaglobulinemia ocasional, associada a um risco aumentado de infecções bacterianas e suscetibilidade a lesões induzidas pelo papilomavírus humano (HPV) (verrugas cutâneas, displasia genital e carcinoma invasivo da mucosa).
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Deficiência imunológica congênita autossômica dominante caracterizada por retenção anormal de neutrófilos maduros na medula óssea (mielcatexia) e hipogamaglobulinemia ocasional, associada a um risco aumentado de infecções bacterianas e suscetibilidade a lesões induzidas pelo papilomavírus humano (HPV) (verrugas cutâneas, displasia genital e carcinoma invasivo da mucosa).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 40 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10074102, PubMed:10452968, PubMed:10644702, PubMed:10825158, PubMed:18799424, PubMed:20048153, PubMed:20505072, PubMed:24912431, PubMed:28978524, PubMed:8752280, PubMed:8752281). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstr
Cell membraneCell junctionEarly endosomeLate endosomeLysosome
WHIM syndrome 1
An autosomal dominant immunologic disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
60 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 33 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome WHIM
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
5 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
WHIM syndrome is the inborn errors of immunity characterized by warts, hypogammaglobulinemia, infections, and myelokathexis, by the pathogenic variant in CXCR4. Patients with WHIM syndrome demonstrate neutropenia and lymphopenia due to the impaired migration of neutrophils and lymphocytes from the bone marrow. Diagnosis of patients with WHIM syndrome is often challenging, because some patients with WHIM syndrome do not show all characteristic four manifestations. T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay is used for the screening of disease, such as severe combined immunodeficiencies and X-linked agammaglobulinemia. Several reports have shown that patients with WHIM syndrome show relatively low TREC or KREC levels, sometimes below the cut-off value. We present a patient with WHIM syndrome who developed recurrent viral and bacterial infections with myelokathexis. We assessed TREC, KREC, and a housekeeping gene marker levels at 5 days after birth and 3 years of age; although all values were relatively low, they remained above the established cut-off thresholds. We reviewed reports on TREC, KREC, and housekeeping gene levels in patients with WHIM syndrome and found that these patients generally showed relatively low levels of all three markers, with some values falling below the established cut-off thresholds.
WHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation.
WHIM syndrome is a rare autosomal dominant primary immunodeficiency characterized by the classical tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. The majority of cases are associated with gain-of-function mutations in the CXCR4 gene. Recent studies have expanded the clinical spectrum of the disease, revealing that only a subset of patients present with all four hallmark features. This underscores the syndrome's variable expression and the need for greater clinical awareness of its atypical forms. We report a case of a 6-year-old Saudi girl who presented with persistent neutropenia, recurrent upper respiratory infections, and an episode of thrombocytopenia following a dental procedure. She did not exhibit warts, hypogammaglobulinemia, or myelokathexis. Immunological workup revealed marked lymphopenia affecting T, B, and NK cells, while immunoglobulin levels remained within normal limits. Bone marrow findings were unremarkable. Whole-exome sequencing identified a heterozygous de novo CXCR4 frameshift mutation (c.1172_1173del), confirming the diagnosis of WHIM syndrome. The patient was clinically stable and managed conservatively with precautions. This case contributes to the evolving understanding of the clinical variability in WHIM syndrome and highlights the importance of genetic testing in patients with unexplained neutropenia and recurrent infections, even in the absence of the complete clinical tetrad.
Gene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is an immunodeficiency caused by autosomal dominant hyperfunctional mutations in chemokine receptor CXCR4 that promote panleukopenia due to BM retention. We previously reported a preclinical gene therapy protocol involving allele-nonspecific Cxcr4 CRISPR/Cas9 inactivation, leveraging the known in vivo dominance of Cxcr4+/o (+, WT; o, inactivated) hematopoietic stem cells (HSCs) for autologous BM engraftment and leukocyte reconstitution over HSCs with other Cxcr4 genotypes. Here, we show that without BM conditioning, this approach is not able to correct leukopenia in WHIM mice. We therefore modified the protocol by adding conditioning with a nongenotoxic CD117-targeted immunotoxin, CD117-antibody-saporin-conjugate. With this change, donor-derived blood cells rapidly reached ~95% chimerism after transplantation, which was stable without adverse events. Mice receiving edited HSCs showed rapid normalization of absolute myeloid cell counts, the key blood subset responsible for WHIM syndrome. In competitive transplants using equal numbers of edited and unedited donor HSCs, over 80% of blood cells originated from the edited population, predominantly with the Cxcr4+/o genotype. These results provide proof of principle that CRISPR/Cas9-mediated inactivation of the Cxcr4 disease allele, combined with nongenotoxic HSC-targeted conditioning, may offer a safe and effective gene therapy strategy generalizable to all WHIM-causing mutations.
WHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is an autosomal dominant combined immunodeficiency (CID), often caused by increased CXCR4 pathway signaling. Against early-onset hallmark of neutropenia, diagnosis is delayed due to lack of awareness, incomplete penetrance, and requirement for specialized bone marrow evaluation to detect myelokathexis. Some infants with WHIM are identified via newborn screening for low thymic emigrant T cells. Early pediatric diagnosis is associated with improved outcomes. The genetic spectrum of CXCR4 expands beyond the canonical C-terminal hotspot, with N-terminal p.D84H variant. Recent trials of oral CXCR4 antagonist demonstrated increased circulating mature neutrophils and lymphocytes, reduced infection burden, and, in some cases, wart regression. Mechanistic studies in human and murine models contribute to the understanding of the combined immunodeficiency phenotype and highlight how CXCR4 hyperactivation impairs hematopoietic stem/progenitor cell egress, leukocyte trafficking and disrupts stromal niches critical for lymphocyte development and survival. Increased awareness, opportunities for screening at birth, improved pathological and genetic diagnostics, and 2024 FDA approval of the first oral CXCR4 antagonist create practical advance in targeting WHIM syndrome. As a CID with lifetime risk for humoral deficiency, impaired antiviral defense and malignancy, WHIM warrants long-term monitoring and further investigation into broader applications of CXCR4 antagonism.
Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.
WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) syndrome is an ultrarare inborn error of immunity caused by heterozygous, gain-of-function CXCR4 mutations that impede leukocyte egress from bone marrow, resulting in panleukopenia. The CXCR4 antagonist plerixafor (AMD3100, Mozobil) durably reverses panleukopenia and in most WHIM patients induces wart regression; however, its short half-life requires twice daily injection. To develop a simpler, cheaper and potentially more effective method of drug delivery, we conducted a Phase 1 study of WHIM patients given plerixafor 0.02-0.08 mg/kg/d by continuous subcutaneous infusion using an OmniPod insulin pump, and assessed compliance as well as effects on blood leukocyte counts, infections, chronic skin conditions and adverse events. Six patients were treated for a total of 6.3 patient-years; one patient dropped out early for personal reasons. The drug infusion rate was adjusted to achieve a normal absolute lymphocyte count and an absolute neutrophil count >500 cells/μl in all patients. An average of 2.1 infections/patient-year occurred (range 0-4). Treatment of two infections involved brief hospitalization. On plerixafor, partial wart regression occurred in 3 of 4 patients, a single molluscum contagiosum infection regressed and a chronic post-Mohs surgical wound epithelialized. There were 3 serious adverse events, but none was attributable to the treatment. All patients preferred pump administration over syringe injection. Thus, in WHIM patients a continuous infusion pump may be a convenient, safe and potentially cost-effective means of delivering plerixafor chronically to correct panleukopenia and to improve chronic skin conditions. Clinicaltrials.gov NCT00967785.
Publicações recentes
Oral CXCR4 inhibition with mavorixafor: Emerging therapeutic applications in WHIM syndrome, chronic neutropenia, oncology, and stem cell mobilization.
Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.
A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review().
WHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation.
Gene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.
📚 EuropePMC129 artigos no totalmostrando 129
A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
Immunological medicineWHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyGene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.
The Journal of clinical investigationWHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care.
Current opinion in allergy and clinical immunologyCXCR4 antagonism corrects neutrophil abnormalities and reduces pneumonia severity in a pharmacological mouse model of CXCR2 loss-of-function-mediated neutropenia.
Frontiers in immunologyCase Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.
Frontiers in immunologyImmunoregulator multitasking in neurons is not just a WHIM.
NeuronMonoclonal gammopathy in WHIM syndrome can mask hypogammaglobulinemia.
The journal of allergy and clinical immunology. GlobalNeurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency.
NeuronGame Changers: Blockbuster Small-Molecule Drugs Approved by the FDA in 2024.
Pharmaceuticals (Basel, Switzerland)Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.
medRxiv : the preprint server for health sciencesClinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.
Laboratory investigation; a journal of technical methods and pathologyMavorixafor: a CXCR4 antagonist for WHIM syndrome.
Immunopharmacology and immunotoxicologyMavorixafor, CXCR4 antagonist, a novel treatment for WHIM syndrome, first FDA approval 2024.
Annals of medicine and surgery (2012)Cutaneous manifestations of WHIM syndrome.
The Journal of dermatologyRisk of Superficial Fungal Infections in WHIM Syndrome.
Dermatology and therapyRecalcitrant tinea capitis in WHIM syndrome.
Skin health and diseaseUnveiling WHIM syndrome: Mavorixafor's emerging role in immune restoration and therapy.
Clinical and experimental immunologyCorrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation.
Frontiers in immunologyFrom phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia.
Biomedica : revista del Instituto Nacional de SaludCXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome.
Frontiers in immunologyHeterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation.
Frontiers in immunologyXolremdi (Mavorixafor): a breakthrough in WHIM syndrome treatment - unraveling efficacy and safety in a rare disease frontier.
Annals of medicine and surgery (2012)Use of plerixafor for short-term management of leukopenia in a pediatric patient with WHIM syndrome.
Pediatric blood & cancerCXCR4 signaling determines the fate of hematopoietic multipotent progenitors by stimulating mTOR activity and mitochondrial metabolism.
Science signalingIncreased Susceptibility of WHIM Mice to Papillomavirus-induced Disease is Dependent upon Immune Cell Dysfunction.
PLoS pathogensExpanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.
Frontiers in immunologyThe complex nature of CXCR4 mutations in WHIM syndrome.
Frontiers in immunologyUnexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.
Blood advancesMavorixafor: First Approval.
DrugsMavorixafor: a new hope for WHIM syndrome.
BloodPlerixafor for pathogen-agnostic treatment in murine thigh infection and zebrafish sepsis.
Clinical and translational scienceA novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Blood advancesCXCR4 chemokine antagonist scores a first FDA approval for WHIM syndrome.
Nature reviews. Drug discoveryA phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome.
BloodCXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma.
The New England journal of medicineCXCR4 WHIM syndrome is a cancer predisposition condition for virus-induced malignancies.
British journal of haematologyInterplay between androgen and CXCR4 chemokine signaling in myelin repair.
Acta neuropathologica communicationsPeriodontal disease in patients with WHIM syndrome.
Journal of clinical periodontologyCongenital neutropenia: From lab bench to clinic bedside and back.
Mutation research. Reviews in mutation research[Early detection of WHIM symdrome. A case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
The Journal of clinical investigationGene silencing on a WHIM.
BloodDale DC, Firkin F, Bolyard AA, et al. Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome. Blood. 2020;136(26):2994-3003.
BloodSevere CD8+ T Lymphopenia in WHIM Syndrome Caused by Selective Sequestration in Primary Immune Organs.
Journal of immunology (Baltimore, Md. : 1950)Vedolizumab for children with intestinal graft-versus-host disease: a case report and literature review.
International journal of hematologyHistorical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Journal of pediatric hematology/oncologyWHIM Syndrome-linked CXCR4 mutations drive osteoporosis.
Nature communicationsCRISPR/Cas9-mediated Cxcr4 disease allele inactivation for gene therapy in a mouse model of WHIM syndrome.
BloodReduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.
JCI insightWHIM Syndrome: First Reported Case in a Patient of African Ancestry.
Case reports in hematology[CXCR4 as a rheostat of humoral response].
Medecine sciences : M/SCan we identify WHIM in infancy? Opportunities with the public newborn screening process.
American journal of medical genetics. Part C, Seminars in medical geneticsReactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.
Frontiers in immunologyDysregulated stem cell niches and altered lymphocyte recirculation cause B and T cell lymphopenia in WHIM syndrome.
Science immunologyGenotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants.
Genes and immunityDisease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Journal of clinical immunologyClinical and Hematologic Effects of Endotoxin in Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome Model Mice.
ImmunoHorizonsAltered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients.
Proceedings of the National Academy of Sciences of the United States of AmericaCase Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.
Frontiers in immunologyA Sherlock Approach to a Kindred With a Variable Immunohematologic Phenotype.
The journal of allergy and clinical immunology. In practicePlerixafor on a WHIM - Promise or Fantasy of a New CXCR4 Inhibitor for This Rare, but Important Syndrome?
Skin therapy letterCharacterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine receptor CXCR4.
The Journal of biological chemistryDexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome.
Journal of clinical immunologyMesenchymal Stem/Stromal Cells Overexpressing CXCR4R334X Revealed Enhanced Migration: A Lesson Learned from the Pathogenesis of WHIM Syndrome.
Cell transplantationMulticenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.
Journal of clinical immunologyHematopoietic Multipotent Progenitors and Plasma Cells: Neighbors or Roommates in the Mouse Bone Marrow Ecosystem?
Frontiers in immunologyUnusual morphological abnormality of neutrophils in a patient with SARS-CoV-2 infection.
British journal of haematologyCXCR4 signaling controls dendritic cell location and activation at steady state and in inflammation.
BloodHematologic disorder-associated Cxcr4 gain-of-function mutation leads to uncontrolled extrafollicular immune response.
BloodThe negative charge of the 343 site is essential for maintaining physiological functions of CXCR4.
BMC molecular and cell biologyTREC Screening for WHIM Syndrome.
Journal of clinical immunologyHematopoietic Stem Cell Niches and Signals Controlling Immune Cell Development and Maintenance of Immunological Memory.
Frontiers in immunologyResults of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.
BloodAberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.
International journal of molecular sciencesIncomplete Presentation of WHIM Syndrome: The Diagnostic Role of Dysmorphic Neutrophils in Bone Marrow.
Journal of pediatric hematology/oncologyCXCR4 antagonist AMD3100 (plerixafor): From an impurity to a therapeutic agent.
Pharmacological researchNew Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.
VaccinesLow-level Cxcr4-haploinsufficient HSC engraftment is sufficient to correct leukopenia in WHIM syndrome mice.
JCI insightFamily studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
Current opinion in hematologyA chemotaxis model to explain WHIM neutrophil accumulation in the bone marrow of WHIM mouse model.
Blood science (Baltimore, Md.)Abnormal Newborn Screen in a WHIM Syndrome Infant.
Journal of clinical immunologyAcute myeloid leukemia arising after Hodgkin lymphoma in a patient with WHIM syndrome.
Pediatric blood & cancerCase Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.
F1000ResearchWHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
Journal of clinical immunologyEnhanced Bone Marrow Homing of Natural Killer Cells Following mRNA Transfection With Gain-of-Function Variant CXCR4R334X.
Frontiers in immunologyThe WHIM Syndrome Is No Longer a Whim.
The journal of allergy and clinical immunology. In practicePlerixafor for the Treatment of WHIM Syndrome. Reply.
The New England journal of medicinePlerixafor for the Treatment of WHIM Syndrome.
The New England journal of medicineCerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.
Orphanet journal of rare diseasesMozobil® (Plerixafor, AMD3100), 10 years after its approval by the US Food and Drug Administration.
Antiviral chemistry & chemotherapyAcetate as a model for aspartate-based CXCR4 chemokine receptor binding of cobalt and nickel complexes of cross-bridged tetraazamacrocycles.
Dalton transactions (Cambridge, England : 2003)Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.
The journal of allergy and clinical immunology. In practiceRubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Journal of clinical immunologyAdaptive Immunodeficiency in WHIM Syndrome.
International journal of molecular sciencesWHIM syndrome: Immunopathogenesis, treatment and cure strategies.
Immunological reviewsMetagenomic Discovery of 83 New Human Papillomavirus Types in Patients with Immunodeficiency.
mSpherePathological roles of the homeostatic chemokine CXCL12.
Cytokine & growth factor reviewsTransient Marked Increase of γδ T Cells in WHIM Syndrome After Successful HSCT.
Journal of clinical immunologyEnhancement of stem cell engraftment on a WHIM.
The Journal of clinical investigationCXCR4, the master regulator of neutrophil trafficking in homeostasis and disease.
European journal of clinical investigationCxcr4-haploinsufficient bone marrow transplantation corrects leukopenia in an unconditioned WHIM syndrome model.
The Journal of clinical investigation[Late diagnosis of WHIM sydrome].
MedicinaNeutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyMultisystem multitasking by CXCL12 and its receptors CXCR4 and ACKR3.
CytokineMechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis.
Journal of clinical immunologyHow I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.
BloodPathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.
Expert opinion on orphan drugsCXCL12 Mediates Aberrant Costimulation of B Lymphocytes in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Immunodeficiency.
Frontiers in immunologyCXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome.
The Journal of pharmacology and experimental therapeuticsWHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.
Annals of laboratory medicineLymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization.
The Journal of experimental medicineDysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?
Frontiers in pediatricsPreference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome.
Journal of clinical immunologyG Protein-Coupled Receptor Kinase 3 and Protein Kinase C Phosphorylate the Distal C-Terminal Tail of the Chemokine Receptor CXCR4 and Mediate Recruitment of β-Arrestin.
Molecular pharmacologyDetection of MYD88 L265P and WHIM-like CXCR4 mutation in patients with IgM monoclonal gammopathy related disease.
Annals of hematologyTargeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.
The Journal of allergy and clinical immunologyEfficient Plasma Cell Differentiation and Trafficking Require Cxcr4 Desensitization.
Cell reportsModern management of phagocyte defects.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologySuccessful hematopoietic stem cell transplantation for myelofibrosis in an adult with warts-hypogammaglobulinemia-immunodeficiency-myelokathexis syndrome.
The Journal of allergy and clinical immunologyWaldenström macroglobulinemia: biology, genetics, and therapy.
Blood and lymphatic cancer : targets and therapyCXCR4 signaling in health and disease.
Immunology lettersClinical Validation of a CXCR4 Mutation Screening Assay for Waldenstrom Macroglobulinemia.
Clinical lymphoma, myeloma & leukemiaWHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).
Journal of clinical immunologyChromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation.
Rare diseases (Austin, Tex.)Human Immunodeficiencies Related to Defective APC/T Cell Interaction.
Frontiers in immunologyMolecular Pathways: Targeting the CXCR4-CXCL12 Axis--Untapped Potential in the Tumor Microenvironment.
Clinical cancer research : an official journal of the American Association for Cancer ResearchChromothriptic cure of WHIM syndrome.
CellPrimary cutaneous follicle center lymphoma in a patient with WHIM syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.
- WHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology· 2026· PMID 41629964mais citado
- Gene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.
- WHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care.
- Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.
- Oral CXCR4 inhibition with mavorixafor: Emerging therapeutic applications in WHIM syndrome, chronic neutropenia, oncology, and stem cell mobilization.
- Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:51636(Orphanet)
- OMIM OMIM:193670(OMIM)
- MONDO:8000006(MONDO)
- GARD:9297(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1258463(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
