Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Woellner, Cristina; Gertz, E. Michael; Schäffer, Alejandro A.; Lagos, Macarena; Perro, Mario; Glocker, Erik; Pietrogrande, Maria Cristina; Cossu, Fausto; Franco, José Luis; Matamoros, N.; Pietrucha, Barbara; Heropolitańska-Pliszka, Edyta; Yeganeh, Mehdi; Moin, Mostafa; Español, Teresa; Ehl, Stephan; Gennery, Andrew R.; Abinun, Mario; Bręborowicz, Anna; Niehues, Tim; Kılıç, Sara Şebnem; Junker, Anne; Turvey, Stuart E.; Plebani, Alessandro; Sánchez, Berta; Garty, Ben Zion; Pignata, Claudio; Cancrini, Caterina; Litzman, Jiří; Sanal, Özden; Baumann, Ulrich; Bacchetta, Rosa; Hsu, Amy P.; Davis, Joie; Hammarström, Lennart; Davies, E. Graham; Eren, Erdem; Arkwright, Peter D.; Moilanen, Jukka S.; Viemann, Dorothee; Khan, Sujoy; Maródi, László; Cant, Andrew J.; Freeman, Alexandra F.; Puck, Jennifer M.; Holland, Steven M.; Grimbacher, Bodo

doi:10.1016/j.jaci.2009.10.059

Cited by 240 publications

(267 citation statements)

References 27 publications

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“…Patients with mutations in IL12RB1, STAT1, TYK2, and STAT3 have been previously described (Table 1 [23][24][25][26][27][28] ). PBMCs were isolated from these patients and healthy donors (Australian Red Cross).…”

Section: Human Patient Samplesmentioning

confidence: 99%

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Cindy

Avery

Chan

et al. 2012

Blood

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267

264

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Section: Human Patient Samplesmentioning

confidence: 99%

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Cindy

Avery

Chan

et al. 2012

Blood

Self Cite

267

264

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“…13,14 Se han descrito mutaciones en todos los dominios de la proteína, pero se reconoce que el dominio de unión al DNA y SH2 es un "punto caliente" (donde ocurren mutaciones con mayor frecuencia). 15 Las mutaciones constitutivas o de línea germinal presentan las manifestaciones más severas de la enfermedad. 16 Recientemente se ha descrito que distintas mutaciones en el mismo aminoácido causan ganancia o pérdida de la función de STAT-3, mostrando la distribución de las mutaciones hipomórficas, con ganancia de función, asociadas con leucemias, linfomas y alteraciones autoinmunes.…”

Section: Antecedentesunclassified

Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8

Alcántara-Montiel

Vega-Torres

2016

RAM

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Este artículo debe citarse como: Alcántara-Montiel JC, Vega-Torres BI. Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8. Rev Alerg Mex. 2016;63(4):385-396 AbstractIn the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome.

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“…Patients' characteristics, including their age, gender, and medical history, based upon the latest HIES diagnostic guidelines, are presented in Table 1 [6]. All patients had developed general manifestations typical of the AD HIES; for which they had received several courses of a long-term antibiotic therapy.…”

Section: Patients' General Health Condition/statusmentioning

confidence: 99%

“…It is considered that the phenotypic feature of AD HIES includes disorders in the eruption of permanent teeth and resorption of the deciduous teeth [2,6,8]. The STAT 3 gene may also play a role in odontogenesis.…”

Section: Clinical Manifestations In the Oral Cavity In Patients With mentioning

confidence: 99%

Clinical immunology Clinical manifestations in the oral cavity in patients with hyper-IgE syndrome.

Olczak‐Kowalczyk¹,

Matosek²,

Heropolitańska-Pliszka³

et al. 2013

cejoi

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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Cited by 240 publications

References 27 publications

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8

Clinical immunology Clinical manifestations in the oral cavity in patients with hyper-IgE syndrome.

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