www.allaboutapds.eu Open in urlscan Pro
165.232.108.147  Public Scan

Form analysis
0 forms found in the DOM

Text Content

ALL ABOUT APDS


ACTIVATED PI3K DELTA SYNDROME

This website is intended for a Healthcare Professional audience

 * What is APDS?
 * APDS Features
 * Diagnosing APDS
 * Managing APDS
 * APDS Resources & Links
 * Patients, Families & Caregivers





Activated PI3Kδ syndrome (APDS; sometimes referred-to as p110δ-activating
mutation causing senescent T cells, lymphadenopathy, and immunodeficiency or
PASLI ) is a recently described form of inborn error of immunity (IEI) that is
characterised by a hyperactive PI3Kδ due to heterozygous mutations in PIK3CD or
PIK3R1 genes.1 APDS presents with a variety of clinical manifestations such as
recurrent sinopulmonary infections, non-neoplastic lymphoproliferation, and
herpesvirus infections.2,3 Other significant complications related to immune
dysregulation include lymphoproliferation, cytopenia, arthritis, inflammatory
bowel disease, and lymphoma.2,3 Patients can wait a significant time without a
diagnosis or are often incompletely diagnosed, as PID, CVID or CID patients.1
Untreated APDS may be associated with significantly increased morbidity and
mortality,2-4 adversely affecting quality of life and may be life-threatening in
some patients.

Genetic testing is the only way to confirm a diagnosis of APDS, and family
testing is recommended to ensure early/accurate diagnosis and targeted
treatment.

What is APDS?

The phosphatidylinositol 3-kinases are a family of lipid kinases that are
activated by a variety of cellsurface receptors to regulate a wide range of
downstream targets that affect cellular metabolism,
growth, survival, differentiation, adhesion and migration…

Read more

APDS symptoms

APDS symptoms are caused by hyperactive PI3Kδ signalling due to specific
mutations in either PIK3CD or PIK3R1...

Read more

Diagnosing APDS

Genetic testing is the only way to confirm the diagnosis of APDS. As there is a
50% of chance of APDS being passed from parent to child, family members of
patients with APDS should also be genetically tested…

Read more

Managing APDS?

The management of APDS is mainly focussed on treatment of symptoms...

Read more

APDS resources and links

Read more

Patients, families & caregivers

Read more


FIND OUT ABOUT APDS


References
 1. Lougaris V, et al. Pediatr Allergy Immunol. 2022 Jan;33 Suppl 27:69-72.
 2. Elkaim E, et al. J Allergy Clin Immunol. 2016;138(1):210-218.
 3. Coulter TI, et al. J Allergy Clin Immunol. 2017;139(2):597-606.
 4. Maccari ME, et al. Front Immunol. 2018;9: Article 543.

APD-INT-2022-0039    Date of preparation: July 2022

© 2022 Pharming Group N.V.

 * Privacy Policy|
 * Terms of use|

APD-INT-2022-0012

Date of preparation: April 2022


We use cookies on our website to give you the most relevant experience by
remembering your preferences and repeat visits. By clicking “Accept All”, you
consent to the use of ALL the cookies. However, you may visit "Cookie Settings"
to provide a controlled consent.
Cookie SettingsAccept All
Manage consent
Close

PRIVACY OVERVIEW

This website uses cookies to improve your experience while you navigate through
the website. Out of these, the cookies that are categorized as necessary are
stored on your browser as they are essential for the working of basic
functionalities of the ...
Necessary
Necessary
Always Enabled
Necessary cookies are absolutely essential for the website to function properly.
These cookies ensure basic functionalities and security features of the website,
anonymously.

CookieDurationDescriptioncookielawinfo-checkbox-analytics11 monthsThis cookie is
set by GDPR Cookie Consent plugin. The cookie is used to store the user consent
for the cookies in the category "Analytics".cookielawinfo-checkbox-functional11
monthsThe cookie is set by GDPR cookie consent to record the user consent for
the cookies in the category "Functional".cookielawinfo-checkbox-necessary11
monthsThis cookie is set by GDPR Cookie Consent plugin. The cookies is used to
store the user consent for the cookies in the category
"Necessary".cookielawinfo-checkbox-others11 monthsThis cookie is set by GDPR
Cookie Consent plugin. The cookie is used to store the user consent for the
cookies in the category "Other.cookielawinfo-checkbox-performance11 monthsThis
cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the
user consent for the cookies in the category
"Performance".viewed_cookie_policy11 monthsThe cookie is set by the GDPR Cookie
Consent plugin and is used to store whether or not user has consented to the use
of cookies. It does not store any personal data.

Functional
Functional
Functional cookies help to perform certain functionalities like sharing the
content of the website on social media platforms, collect feedbacks, and other
third-party features.
Performance
Performance
Performance cookies are used to understand and analyze the key performance
indexes of the website which helps in delivering a better user experience for
the visitors.
Analytics
Analytics
Analytical cookies are used to understand how visitors interact with the
website. These cookies help provide information on metrics the number of
visitors, bounce rate, traffic source, etc.
Advertisement
Advertisement
Advertisement cookies are used to provide visitors with relevant ads and
marketing campaigns. These cookies track visitors across websites and collect
information to provide customized ads.
Others
Others
Other uncategorized cookies are those that are being analyzed and have not been
classified into a category as yet.
SAVE & ACCEPT