Real-world evidence of mortality and survival rates in 256 individuals with APDS

Hanson, Jennifer; Bonnen, Penelope E.

doi:10.1101/2022.12.05.22283110

Cited by 3 publications

(3 citation statements)

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“…for susceptibility to certain infections or the age at onset of lymphoma (19-22). Frequent infections and autoimmunity limit patients' quality of life while severe infections and lymphoma lower the average life expectancy of APDS patients (21,(23)(24)(25). An overview of major signs and symptoms is provided in Figure 1.…”

Section: Symptoms and Long-term Consequencesmentioning

confidence: 99%

“…As APDS patients require permanent treatment and medical attention, this also creates a significant burden on the healthcare system (33). Early diagnosis and treatment may slow the development of bronchiectases and thus preserve both lung function and quality of life (25). Therefore, APDS and other IEI are an important differential diagnosis when bronchiectases occur early in life (23).…”

Section: Bronchiectases and Disease Burdenmentioning

confidence: 99%

“…However, since the course of disease is unpredictable in young children there is a potential risk of subjecting patients with a possibly mild course of disease to potential risks of HSCT. In the literature, HSCT-related events represent the second most common cause of death in APDS patients (25).…”

Section: Stem Cell Transplantationmentioning

confidence: 99%

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Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

Vanselow¹,

Wahn

Schuetz

2023

Front. Immunol.

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Activated PI3Kδ syndrome (APDS) is a rare inborn error of immunity (IEI) characterized primarily by frequent infections, lymphoproliferation and autoimmunity. Since its initial description in 2013, APDS has become part of the growing group of nearly 500 IEIs affecting various components of the immune system. The two subtypes of APDS - APDS1 and APDS2 - are caused by variants in the PIK3CD and PIK3R1 genes, respectively. Due to the rarity of the disease and the heterogeneous clinical picture, many patients are not diagnosed until years after symptom onset. Another challenge is the large number of PIK3CD and PIK3R1 variants whose functional significance for developing APDS is inconclusive. Treatment of APDS has so far been mostly symptom-oriented with immunoglobulin replacement therapy, immunosuppressive therapies and antibiotic or antiviral prophylaxes. Additionally, allogeneic stem cell transplantation as well as new targeted therapies are options targeting the root cause that may improve patients’ quality of life and life expectancy. However, the clinical course of the disease is difficult to predict which complicates the choice of appropriate therapies. This review article discusses diagnostic procedures and current and future treatment options, and highlights the difficulties that physicians, patients and their caretakers face in managing this complex disease. This article is based on cohort studies, the German and US guidelines on the management of primary immunodeficiencies as well as on published experience with diagnosis and compiled treatment experience for APDS.

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Section: Symptoms and Long-term Consequencesmentioning

confidence: 99%

Section: Bronchiectases and Disease Burdenmentioning

confidence: 99%

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Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

Vanselow¹,

Wahn

Schuetz

2023

Front. Immunol.

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A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)

Hitchcock,

Skrobanski,

Matter

et al. 2024

Orphanet J Rare Dis

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Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS and their caregivers. Methods Qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers, to explore the symptoms and health-related quality of life (HRQoL) impact of APDS. Some individuals and caregivers also completed a narrative account exercise. All interviews were audio recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. Results Semi-structured qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers. Individuals and caregivers had the option of completing a narrative account exercise. Six HCPs participated in an interview. Seven participants completed the narrative account exercise (N = 5 caregivers and N = 2 individuals with APDS) and 12 took part in an interview (N = 4 caregivers and N = 8 individuals with APDS). Themes identified from HCPs interviews included symptoms, clinical manifestations, HRQoL impacts and treatments/management of APDS. The narrative account exercise identified similar themes, but with the addition to the journey to diagnosis. These themes were explored during the individual/caregiver interviews. Reported clinical manifestations and symptoms of APDS included susceptibility to infections, lymphoproliferation, gastrointestinal (GI) disorders, fatigue, bodily pain, and breathing difficulties. HRQoL impacts of living with APDS included negative impacts to daily activities, including work, education and social and leisure activities, physical functioning, as well as emotional well-being, such as concern for the future, and interpersonal relationships. Impacts to caregiver HRQoL included negative impacts to physical health, work, emotional well-being, interpersonal relationships and family life and holidays. The management of APDS included the use of healthcare services and medications including immunoglobulin replacement therapy (IRT), rapamycin, prophylactic antibiotics, leniolisib, as well as medical procedures due to complications. Conclusions APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspective of individuals living with the condition, caregivers and treating physicians.

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Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment

Lougaris,

Piane,

Cancrini

et al. 2024

Ital J Pediatr

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Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized by infection susceptibility and immune dysregulation that may overlaps with other Primary Immune Regulatory Disorders (PIRDs). The rarity of the disease, its recent discovery, and the multiform /multifaced clinical presentation make it difficult to establish a correct diagnosis, especially at an early stage. As a result, the true prevalence of the pathology remains unknown. There is no treatment protocol for APDS, and drug therapy is primarily focused on treating symptoms. The most common therapies include immunoglobulin replacement therapy, antimicrobial prophylaxis, and immunosuppressive drugs. Hematopoietic stem cell transplantation (HSCT) has been used in some cases, but the risk-benefit balance remains unclear. With the upcoming introduction of specific medications, such as selective inhibitors for PI3Kδ, clinicians are shifting their attention towards target therapy.This review provides a comprehensive overview of APDS with a focus on diagnostic and treatments procedures available. This review may be useful in implementing strategies for a more efficient patients’ management and therapeutic interventions.Main Text.

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Real-world evidence of mortality and survival rates in 256 individuals with APDS

Cited by 3 publications

References 67 publications

Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment

A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)

Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment

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