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

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• 作者：Mar&iacute ; a Teresa Mart&iacute ; nez-Saavedra^a ; ¹ ; Sonia Garc&iacute ; a-Gomez^b ; ^c ; ¹ ; Ana Dom&iacute ; nguez Acosta^a ; Juan Jesú ; s Mendoza Quintana^a ; Jesú ; s Poch Pá ; ez^d ; Eduardo J. Garc&iacute ; a-Reino^b ; ^c ; Graciá ; n Camps^b ; ^c ; Rubé ; n Martinez-Barricarte^e ; Yuval Itan^e ; Bertrand Boisson^e ; ^g ; ^h ; Silvia Sá ; nchez-Ramó ; nⁱ ; José ; Ramó ; n Regueiro^c ; Jean-Laurent Casanova^e ; ^f ; ^g ; ^h ; ^j ; Carlos Rodr&iacute ; guez-Gallego^k ; ¹ ; Rebeca Pé ; rez de Diego^b ; ^c ; ¹ ; ^{perezdediegor@gmail.com}
• 关键词：Antibody deficiency ; APDS ; Immunophenotyping ; Whole-exome sequencing ; PIK3R1
• 刊名：Clinical Immunology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：173
• 期：Complete
• 页码：117-120
• 全文大小：377 K
• 卷排序：173

文摘

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.