2016
DOI: 10.1111/pai.12585
|View full text |Cite
|
Sign up to set email alerts
|

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

Abstract: A disease-specific registry collecting prospective and long-term follow-up data of patients with APDS, as currently set up by the European Society for Immunodeficiencies, are needed to better understand the natural history and to optimize treatment concepts and thereby improving the outcome of this heterogenous patient group.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

5
40
0

Year Published

2016
2016
2024
2024

Publication Types

Select...
8

Relationship

0
8

Authors

Journals

citations
Cited by 50 publications
(46 citation statements)
references
References 14 publications
5
40
0
Order By: Relevance
“…The description given in the legend of ▶ Fig. 1 is similar to respective descriptions of SHORT syndrome [1,9,10,12], but SHORT defining characteristics are absent from our patients. Other examples are known with hypomorphic and hypermorphic mutations in the same gene (or the same signaling pathway) that lead to different clinical phenotypes, but show some phenotypic overlap nevertheless.…”
Section: Resultssupporting
confidence: 79%
“…The description given in the legend of ▶ Fig. 1 is similar to respective descriptions of SHORT syndrome [1,9,10,12], but SHORT defining characteristics are absent from our patients. Other examples are known with hypomorphic and hypermorphic mutations in the same gene (or the same signaling pathway) that lead to different clinical phenotypes, but show some phenotypic overlap nevertheless.…”
Section: Resultssupporting
confidence: 79%
“…immunodeficiency patients have been identified with either APDS1 or APDS2 mutations (27,28). Patients with APDS exhibit a heterogeneous set of clinical features, including symptoms of both immune deficiency and immune dysfunction (5).…”
Section: Discussionmentioning
confidence: 99%
“…However, in a cohort study of APDS2 patients with germline mutations resulting in a Δ434-475 p85α, the main increased oncogenic risk appeared to be lymphoma (34), with so far no evidence that patients with the APDS2 splice variant have any increased cancer risk outside the immune system. The only nonimmune defect so far identified is growth retardation (27), which has also been identified in SHORT syndrome, a disorder that is caused by heterozygous mutations in PIK3R1 that prevent RTK binding, leading to altered PI3K signaling (4).…”
Section: Discussionmentioning
confidence: 99%
“…Patients with GOF mutations in either of these genes appear to largely phenocopy each other, despite the fact that p85α is ubiquitously expressed and can pair with p110α and p110β in addition to p110δ. There is some evidence for effects of the PIK3R1 mutation outside the immune system (for example, short stature, Box 1)74, but detailed analyses of the effects of this p85α defect on p110α or p110β have not yet been reported. The biochemical and clinical symptoms of patients with APDS1 ( PIK3CD mutations) or APDS2 ( PIK3R1 mutations) are similar, suggesting that the pathological features of both syndromes are a consequence of aberrant and hyperactive PI3Kδ signalling14.…”
Section: Alterations In Pi3kδ Signalling Leads To Pids In Humansmentioning
confidence: 99%
“…Growth retardation is common in patients with APDS2 6, 73, 74 but does not seem to be a feature of APDS1 and may relate to the association of heterozygous mutations in PIK3R1 with SHORT syndrome (short stature, hyperextensibility of joints, hernia, ocular depression, Rieger anomaly and teething delay)8891.…”
Section: Clinical Features Of Apdsmentioning
confidence: 99%