APDS has potential life-threatening complications if left under-treated, misdiagnosed or undiagnosed completely.
Symptoms of APDS can vary, even within families carrying the same condition. These can range from asymptomatic adult patients, to those with primary antibody deficiencies, profound immunodeficiencies (which can cause early death), auto immunities, or patients suffering from lymphoproliferation and malignancy. Most commonly, manifestations begin in early childhood with recurrent respiratory infections, often bronchiectasis (scarring of the airways) and autoimmunity in later childhood. ¹
COMMON SYMPTOMS IN APDS PATIENTS
“Typically, a person with APDS will present to a hospital within the first 5 years of life with a predominant and recurring respiratory tract infection. They can also present with swollen lymph nodes. Unfortunately, these general patient symptoms often result in medical professionals pre-diagnosing a range of autoimmune disorders before Primary Immunodeficiency (PI) diagnosis is considered.
Even if a PI Classification is given, a patient can be misdiagnosed with Common Variable Immune Deficiency (CIVID) and Hyper-IgM. This leads to APDS patients being cared for by a variety of physicians, and managed by treatments that don’t address the underlying genetic defect.”
Nicholas Hartog, MD, is a board-certified paediatric and adult allergy and immunology physician.
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Varying Clinical Manifestations of APDS Patients
98% of cases
63% of cases
62% of cases
57% of cases
48% of cases
35% of cases
30% of cases
20% of cases
13% of cases
22% of cases
All modified from: Coulter TI, et al. JACI. Vol 138:2, 2017. Based on patient cohort study n = 54
*Modified from: Maccari ME, et al. Disease Evolution and Response to Rapamycin Phosphinositide 3-Kinase & Syndrome doi:10.3389/fimmu.2018.00543 Based on patient cohort study n = 77
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1. Angulo I, Vadas O, Garçon F, et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-871. doi:10.1126/science.1243292