PIK3R1 mutation associated with primary immunodeficiency: a case of a 14-year-old male and review of the literature: case report

Enas S. Alharbi, Talal Saleh Alzahrani, Manal Mohammed Afqi, Ayman Elhomoudi
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Abstract

We report a rare case of a 14-year-old boy diagnosed with Activated phosphoinositide 3-kinase delta syndrome Type 2 (APDS2). Based on a typical clinical presentation (Delayed teething, Prominent lymphadenopathy and recurrent characteristic infections started early in life and including multiple episodes of bilateral conjunctivitis, an extensive herpes skin infection in addition to recurrent upper sinopulmonary infections) along with suggestive laboratory immunological findings, and positive confirmatory genetic testing. After diagnosis, the patient was commenced on prophylactic antibiotics which resulted in a reduction in the frequency of his infections and hospitalizations. The targeted therapy of mTOR inhibition with Sirolimus and the possibility of hematopoietic stem cells transplantation are considered and discussed with the family, and he is on regular follow-up with the Allergy/Immunology team. APDS is a rare but increasingly reported inborn error of immunity. Gain-of-function and loss-of-function mutations in phosphoinositide 3-kinase (PIK3CD (encoding P 110 δ ) and PIK3R1 (encoding p 85 α , p 55 α , a n d p 50 α )) lead to APDS1 and APDS2, respectively. Our aim in reporting our case is to allow room for more elaboration of the different genotypes and clinical presentations of both types of APDS, in which early and accurate diagnosis will subsequently help in the initiation of outcome-improving therapy.
PIK3R1突变与原发性免疫缺陷相关:一名14岁男性病例及文献回顾:病例报告
我们报告一例罕见的14岁男孩被诊断为活化磷酸肌肽3-激酶δ综合征2型(APDS2)。基于一个典型的临床表现(延迟出牙,突出的淋巴结病和复发性特征性感染开始于生命早期,包括多次发作的双侧结膜炎,广泛的疱疹皮肤感染以及复发性上肺感染),以及暗示性的实验室免疫学结果,以及阳性的确诊基因检测。诊断后,患者开始使用预防性抗生素,从而减少了感染和住院的频率。考虑并与家人讨论了西罗莫司靶向治疗mTOR抑制和造血干细胞移植的可能性,并与过敏/免疫学团队定期随访。APDS是一种罕见但越来越多报道的先天性免疫错误。磷酸肌肽3激酶(PIK3CD(编码p110 δ)和PIK3R1(编码p85 α、p55 α、an和p50 α)的功能获得和功能丧失突变分别导致APDS1和APDS2。我们报告这一病例的目的是为两种APDS的不同基因型和临床表现提供更多的阐述空间,在这种情况下,早期和准确的诊断将有助于随后开始改善结果的治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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