Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Clin Immunol
; 179: 77-80, 2017 06.
Article
en En
| MEDLINE
| ID: mdl-28302518
ABSTRACT
Mutations in PIK3R1 gene have been associated to two different conditions a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fosfatidilinositol 3-Quinasas
/
Trastornos del Crecimiento
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Hipercalcemia
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Síndromes de Inmunodeficiencia
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Enfermedades Metabólicas
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Nefrocalcinosis
Límite:
Child
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Humans
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Infant
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Male
Idioma:
En
Revista:
Clin Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
Año:
2017
Tipo del documento:
Article