Details

Autor(en) / Beteiligte

• Martínez-Saavedra, María Teresa
• García-Gomez, Sonia
• Acosta, Ana Domínguez
• Quintana, Juan Jesús Mendoza
• Páez, Jesús Poch
• García-Reino, Eduardo J
• Camps, Gracián
• Martinez-Barricarte, Rubén
• Itan, Yuval
• Boisson, Bertrand
• Sánchez-Ramón, Silvia
• Regueiro, José Ramón
• Casanova, Jean-Laurent
• Rodríguez-Gallego, Carlos
• de Diego, Rebeca Pérez

Titel

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

Ist Teil von

• Clinical immunology (Orlando, Fla.), 2016-12, Vol.173, p.117-120

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2016

Quelle

Elsevier ScienceDirect Journals

Beschreibungen/Notizen

• Abstract Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.