Cargando…

WHIM Syndrome: First Reported Case in a Patient of African Ancestry

BACKGROUND: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, primary immunodeficiency syndrome characterized by warts, hypogammaglobulinemia, immunodeficiency, and characteristic bone marrow features of myelokathexis. The pathophysiology of WHIM syndrome is due...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gandhi, Jinal, Lee, Michelle H., Adams, Lynsie, Allen, Tara Shrout, Li, Julie, Edwards, Camille Vanessa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925260/ https://www.ncbi.nlm.nih.gov/pubmed/36793393 http://dx.doi.org/10.1155/2023/3888680

Ejemplares similares

Adaptive Immunodeficiency in WHIM Syndrome
por: Majumdar, Shamik, et al.
Publicado: (2018)

Whims of Hysteria
Publicado: (1885)

Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4(WHIM) variants
por: Zmajkovicova, Katarina, et al.
Publicado: (2022)

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient
por: McDermott, David H., et al.
Publicado: (2019)

A chemotaxis model to explain WHIM neutrophil accumulation in the bone marrow of WHIM mouse model
por: Yip, Ai Kia, et al.
Publicado: (2019)

WHIM Syndrome-linked CXCR4 mutations drive osteoporosis
por: Anginot, Adrienne, et al.
Publicado: (2023)

A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology
por: Naoum, Flavio Augusto
Publicado: (2011)

Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome
por: Siedlar, Maciej, et al.
Publicado: (2008)

Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation
por: McDermott, David H, et al.
Publicado: (2015)

Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome
por: Laberko, Alexandra, et al.
Publicado: (2021)

Pandemic puppies bought on a whim
Publicado: (2020)

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom’s Macroglobulinemia
por: Milanesi, Samantha, et al.
Publicado: (2020)

WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child
por: Shin, Dong Woo, et al.
Publicado: (2017)

Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome
por: Akahane, Daigo, et al.
Publicado: (2021)

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
por: Geier, Christoph B., et al.
Publicado: (2022)

Extensive set of African ancestry-informative markers (AIMs) to study ancestry and population health
por: Boudeau, Samantha, et al.
Publicado: (2023)

Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome
por: Akahane, Daigo, et al.
Publicado: (2022)

Drug Development for Maternal Health Cannot Be Left to the Whims of the Market
Publicado: (2008)

PB1938: 4WHIM: EVALUATING MAVORIXAFOR, AN ORAL CXCR4 ANTAGONIST, IN PATIENTS WITH WHIM SYNDROME VIA A GLOBAL PHASE 3, RANDOMIZED, PLACEBO-CONTROLLED TRIAL WITH OPEN-LABEL EXTENSION
por: Dale, D. C., et al.
Publicado: (2022)

CXCL12/CXCR4-Axis Dysfunctions: Markers of the Rare Immunodeficiency Disorder WHIM Syndrome
por: Bachelerie, Françoise
Publicado: (2010)

Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome
por: Ma, Xiaopeng, et al.
Publicado: (2022)

Characterizing the admixed African ancestry of African Americans
por: Zakharia, Fouad, et al.
Publicado: (2009)

A chemotaxis model to explain WHIM neutrophil accumulation in the bone marrow
Publicado: (2022)

Ancestry-associated transcriptomic profiles of breast cancer in patients of African, Arab, and European ancestry
por: Roelands, Jessica, et al.
Publicado: (2021)

PRState: Incorporating genetic ancestry in prostate cancer risk scores for men of African ancestry
por: Pagadala, Meghana S., et al.
Publicado: (2022)

Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients
por: García-Cuesta, Eva M., et al.
Publicado: (2022)

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
por: McDermott, David H., et al.
Publicado: (2023)

African Ancestry Is Associated with Asthma Risk in African Americans
por: Flores, Carlos, et al.
Publicado: (2012)

Annotations: The Universal Cure at Last—"Physicians' Whims" or Women's Faults?—What Is "Pap"?
Publicado: (1889)

The Peculiar Glycolytic Pathway in Hyperthermophylic Archaea: Understanding Its Whims by Experimentation In Silico
por: Zhang, Yanfei, et al.
Publicado: (2017)

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
por: Beaussant Cohen, Sarah, et al.
Publicado: (2012)

Characterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine receptor CXCR4
por: Luo, Jiansong, et al.
Publicado: (2021)

P793: SCREENING OF NATURALLY OCCURRING CXCR4 VARIANTS FOR IDENTIFICATION OF NOVEL PATHOGENIC MUTATIONS FOR WHIM SYNDROME
por: Pawar, S., et al.
Publicado: (2022)

Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations
por: Yoneyama, Sachiko, et al.
Publicado: (2016)

Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?
por: Moscato, Giusella M. F., et al.
Publicado: (2017)

S180: RESULTS OF A PHASE 3 TRIAL OF AN ORAL CXCR4 ANTAGONIST, MAVORIXAFOR, FOR TREATMENT OF PATIENTS WITH WHIM SYNDROME
por: Badolato, Raffaele, et al.
Publicado: (2023)

First Characterization of the Transcriptome of Lung Fibroblasts of SSc Patients and Healthy Donors of African Ancestry
por: Renaud, Ludivine, et al.
Publicado: (2023)

African ancestry, lung function and the effect of genetics
por: Menezes, Ana Maria B., et al.
Publicado: (2015)

Pregnancy, parturition and preeclampsia in women of African ancestry
por: Nakimuli, Annettee, et al.
Publicado: (2014)

Missing in Action: African Ancestry Brain Research
por: Weinberger, Daniel R., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_sdod9rhk0tdmmlmsm41fpoc7g6