Abordaje inmunológico del síndrome por deleción 22q11.2

Vásquez-Echeverri, Estefanía; Sierra, Federico; Trujillo-Vargas, Claudia M.; Orrego-Arango, Julio C.; Garcés-Samudio, Carlos; Lince, Rafael; Franco, José Luis

doi:10.1016/j.infect.2015.07.002

Infectio

2016

DOI: 10.1016/j.infect.2015.07.002

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Abordaje inmunológico del síndrome por deleción 22q11.2

Estefanía Vásquez-Echeverri

Federico Sierra

Claudia M. Trujillo-Vargas

et al.

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Cited by 2 publications

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“…With regard to listening problems, between 38 and 68% of pediatric patients with 22q11.2 microdeletions have a conductive type of hearing loss 39. Patients with 22q11.2 deletions can have weakened immune systems, which are the result of an insufficiently developed thymus where 1% show aplasia of the thymus, and 95% present hypoplasia 40.…”

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The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

et al. 2019

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The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.

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The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

et al. 2019

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Síndrome de DiGeorge/velocardiofacial: reporte de un caso

2020

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El síndrome de DiGeorge, también conocido como síndrome velocardiofacial o síndrome de deleción 22q11, se caracteriza por la ausencia congénita del timo y la glándula paratiroides. La tríada clásica de este trastorno es cardiopatía congénita, endocrinopatía con hipocalcemia e inmunodeficiencia primaria. Sin embargo, el síndrome puede exhibir múltiples alteraciones y manifestaciones clínicas pleiotrópicas que, a menudo, resultan en dismorfismo facial y alteraciones en el paladar. Clínicamente se evidencia mayor susceptibilidad a infecciones respiratorias o gastrointestinales recurrentes y, en los casos de aplasia tímica, se requiere tratamiento con antibióticos profilácticos y trasplante tímico, mientras que en los demás se hace manejo expectante. En este manuscrito se presenta el caso de un paciente masculino de 18 meses de edad, remitido al servicio de genética por presentar diversas alteraciones fenotípicas. Se describe el proceso mediante el cual se llegó al diagnóstico de síndrome de DiGeorge, a su manejo y pronóstico, y se hace una breve revisión de la literatura.

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Abordaje inmunológico del síndrome por deleción 22q11.2

Cited by 2 publications

References 46 publications

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

Síndrome de DiGeorge/velocardiofacial: reporte de un caso

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