FEATURES AND IMPACT OF APDS

There are a wide range of clinical manifestations associated with APDS, and the condition can present differently from patient to patient.1,2

Clinical manifestations of APDS can appear in childhood, from as early as one year old, and become progressively worse over time.1,2 Patients with APDS often experience a variety of acute and chronic clinical features across multiple organ systems.1,2

Typical clinical features of APDS1-5

  • Recurrent sinopulmonary infections
  • Neurodevelopmental delay
  • Failure to thrive in infants
  • Recurrent viral infections (colds, herpes such as EBV and CMV, warts, condyloma)
  • Recurrent need for antibiotics to treat infections
  • Recurrent, deep abscesses of the skin or internal organs
  • Persistent thrush or fungal infections
  • Bronchiectasis
  • Lymphadenopathy for >1 month
  • Any nodular lymphoid hyperplasia
  • Chronic hepatomegaly or chronic splenomegaly
  • Autoimmune cytopenia
  • Enteropathy, including chronic diarrhoea and weight loss
  • Lymphoma

Research suggests that people with APDS frequently suffer from the following complications:5

Respiratory infections

92%

Lymphoproliferation

86%

Invasive bacterial infections

53%

Bronchiectasis

50%

Enteropathy

35%

Research has suggested that APDS leads to early mortality, due to an accumulation of complications caused by APDS.4,6 Benign lymphoproliferation can progress to malignancy in patients with APDS, with lymphomas being the most common form.2 It is estimated that there is a 78% cumulative risk for lymphoid malignancy at 40 years of age.2

Lymphoma is the most common cause of death in APDS; an estimated

42%

of APDS fatalities are thought to be due to lymphoma.7

Physician inspects neck muscles of a female patient during a check-up visit to a clinic.

Impact of APDS

As well as living with recurrent and progressive manifestations, patients with APDS often require regular medical intervention, surgeries, outpatient appointments and hospital admissions.2,6,8,9 Along with the physical symptoms, APDS can have a negative impact on mental health, with many patients experiencing stress, anxiety and depression.6,8-12 Furthermore, it takes an average of seven years to be diagnosed with APDS, which can exacerbate feelings of anxiety and depression.1,9

The physical and psychological impacts of APDS cause patients to regularly miss school, work or social activities.10

Four teenagers sitting down in a field at sunset, talking and laughing.
  1. Jamee M, et al. Clin Rev Allergy Immunol.2020 ;59(3) :323-333.
  2. Elkaim E, et al. J Allergy Clin Immunol. 2016 ;138(1) :210-218.e9.
  3. Maccari ME, et al. Front Immunol. 2018;9:543.
  4. Redenbaugh V, Coulter T. Front Pediatr. 2021;9 :702872.
  5. Maccari ME, et al. J Allergy Clin Immunol. 2023;152(4):984–96.
  6. Coulter TI, et al. J Allergy Clin Immunol.2017;139(2):597-606.
  7. Hanson J, Bonnen PE. J Clin Exp Med. 2024;24:17.
  8. Jiang F, et al. Allergy Asthma Clin Immunol.2015;11:27.
  9. Anderson JT, et al. Clin Immunol.2022;236:108931.
  10. Rider NL, et al. J Clin Immunol. 2017;37(5):461-475.
  11. Kuburovic NB, et al. Patient Prefer Adherence.2014;8:323-330.
  12. Carpier JM, Lucas CL. Front Immunol. 2018;8:2005.