Cargando…

Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic muc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Venegas-Montoya, Edna, Staines-Boone, Aidé Tamara, Sánchez-Sánchez, Luz María, García-Campos, Jorge Alberto, Córdova-Gurrola, Rubén Antonio, Salazar-Galvez, Yuridia, Múzquiz-Zermeño, David, González-Serrano, María Edith, Lugo Reyes, Saul O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236627/ https://www.ncbi.nlm.nih.gov/pubmed/34195158 http://dx.doi.org/10.3389/fped.2021.635322

Ejemplares similares

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature
por: Staines-Boone, Aidé Tamara, et al.
Publicado: (2017)

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
por: Staines Boone, Aidé Tamara, et al.
Publicado: (2019)

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico
por: Castano-Jaramillo, Lina M., et al.
Publicado: (2021)

Hyper IgE syndrome
por: Dang, Yun, et al.
Publicado: (2014)

Relevance of Eosinophilia and Hyper-IgE in Immigrant Children
por: Belhassen-García, Moncef, et al.
Publicado: (2014)

An update on the hyper-IgE syndromes
por: Yong, Patrick FK, et al.
Publicado: (2012)

Hyper-IgE and Carcinoma in CADINS Disease
por: Pietzsch, Leonora, et al.
Publicado: (2022)

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE
por: Kienzler, Anne-Kathrin, et al.
Publicado: (2016)

HYPER IgE SYNDROME WITH UMBILICAL HERNIA
por: Hiremath, N C, et al.
Publicado: (2009)

Clinical Manifestations of Hyper IgE Syndromes
por: Freeman, Alexandra F., et al.
Publicado: (2010)

Autosomal-Recessive Hyper-IgE Syndrome
por: Liza, Mohapatra, et al.
Publicado: (2018)

Pediatric anaphylaxis and hyper IgE syndrome
por: Dosanjh, Amrita
Publicado: (2017)

Staphylococcus aureus and Hyper-IgE Syndrome
por: Park, Bonggoo, et al.
Publicado: (2020)

Hyper IgE Syndrome and Renal Cell Carcinoma
por: Patel, Neel H., et al.
Publicado: (2017)

Clinical Profile of Hyper-IgE Syndrome in India
por: Saikia, Biman, et al.
Publicado: (2021)

Hyper IgE Syndrome in an Isolated Population in Israel
por: Lachover-Roth, Idit, et al.
Publicado: (2022)

Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation
por: Wu, Gang, et al.
Publicado: (2015)

Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome
por: Alyasin, Soheyla, et al.
Publicado: (2015)

Liver abscess in a boy with hyper IgE syndrome
por: Nandy, Sneha, et al.
Publicado: (2016)

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report
por: Yang, Jing, et al.
Publicado: (2021)

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
por: Hagl, Beate, et al.
Publicado: (2018)

Profound differences in IgE and IgG recognition of micro‐arrayed allergens in hyper‐IgE syndromes
por: Garib, Victoria, et al.
Publicado: (2021)

The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside
por: Rael, Efren L, et al.
Publicado: (2012)

Hyper IgE in Childhood Eczema and Risk of Asthma in Chinese Children
por: Ng, Chantel, et al.
Publicado: (2016)

Cutaneous Fusariosis in a Patient with Job's (Hyper-IgE) Syndrome
por: Altibi, Ahmed M., et al.
Publicado: (2020)

Patient testimony: hyper-IgE  syndrome and associated lung  infections
por: Orritt, Rachel, et al.
Publicado: (2019)

Chronic pulmonary aspergillosis in a patient with hyper‐IgE syndrome
por: Kasuga, Keisuke, et al.
Publicado: (2021)

Senile erythroderma with hyper IgE: an independent and novel disease form
por: Horiuchi, Yasuhiro
Publicado: (2022)

STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions
por: Tsilifis, Christo, et al.
Publicado: (2021)

Clearance of atypical cutaneous manifestations of hyper‐IgE syndrome with dupilumab
por: Nihal, Aman, et al.
Publicado: (2022)

Hyper-Immunoglobulin E (IgE) Syndrome: A Diagnostic Dilemma
por: Tejada Amaro, Omaira, et al.
Publicado: (2023)

Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome
por: Alonso-Bello, Cesar Daniel, et al.
Publicado: (2019)

RARE ASSOCIATION OF HYPER IgE SYNDROME WITH CERVICAL RIB AND NATAL TEETH
por: Roshan, Anupama S, et al.
Publicado: (2009)

Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome
por: Bhattacharya, Sumona, et al.
Publicado: (2020)

Hyper IgE syndrome (Job syndrome) in Syria: a case report
por: Awad, Rama, et al.
Publicado: (2020)

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
por: Tar, Ildikó, et al.
Publicado: (2023)

Diagnostic challenge in a series of eleven patients with hyper IgE syndromes
por: Yaakoubi, Roukaya, et al.
Publicado: (2023)

Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
por: Johar, Reshale A, et al.
Publicado: (2023)

Erratum to “Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome”
por: Alonso-Bello, Cesar Daniel, et al.
Publicado: (2021)

CD8+ T lymphocytes provide helper activity for IgE synthesis in human immunodeficiency virus-infected patients with hyper-IgE
Publicado: (1995)

Cannot write session to /tmp/vufind_sessions/sess_64i6m58rbuolnbhso5lcagk8ts