PI3K Delta Activation Syndrome (APDS)
WHAT IT IS
A rare Primary Immunodeficiency, characterized by both humoral immunity impairment, with variable severity of agammaglobulinemia and increased IgM levels, and cellular immunity impairment, leading to the circulation of immature or senescent B and T cells, which are not immunocompetent.
HOW IT PRESENTS
The disease manifests from childhood with recurrent and/or severe bacterial and viral infections (particularly bacterial sino-pulmonary and herpes virus infections), chronic benign lymphoproliferation (which begins with lymphadenopathy, hepatosplenomegaly, focal nodular lymphoid hyperplasia, and lymphomas), and/or autoimmune diseases (cytopenias, arthritis, glomerulonephritis, and sclerosing cholangitis).
HOW IT DEVELOPS
The disease is caused by genetic alterations in the PIK3CD and PIK3R1 genes, which encode for the activation or regulation, respectively, of the PI3Kδ protein. These alterations cause abnormalities in the function of T and B lymphocytes.
HOW TO DIAGNOSE IT
Clues that can raise clinical suspicion of APDS include: frequent infections, persistently enlarged lymph nodes, enlargement of the liver and/or spleen, low levels of IgG and IgA immunoglobulins with elevated IgM, reduced and immature B lymphocytes, and an imbalance of T lymphocytes, with a shift toward terminally differentiated ones.
The definitive diagnosis of APDS is made only through genetic analysis of the PIK3CD and PIK3R1 genes, which encode for the two subunits of PI3Kδ.
HOW IT IS TREATED
The only cure for APDS, in rare cases of compatibility, is Hematopoietic Stem Cell Transplantation (HSCT). Symptomatic treatment involves anti-infective and anti-inflammatory medications, immunoglobulin replacement therapy, and other immunosuppressive drugs.
Help us spread awareness of this rare Primary Immunodeficiency among doctors and pediatricians
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THE STORIES OF THOSE LIVING WITH AN APDS DIAGNOSIS
SARA’S STORY
"When I was a child I remember my parents very concerned, going from one doctor to another without having replies. We fought together: this has been our strenght against a serious chronic disease. I never gave up and certainly this influenced very much the person I’m today."
LEO’S STORY
"Not many years ago, thanks to a Facebook group, I found that there are other people affected and this makes me feel less isolated. Since then I make an effort to tell my condition to friends and relatives, to express what I feel and to share the distresses."
LUCIA AND HER FATHER CARLO’S STORY
"Since when the illness has been identified and finally the suitable treatment has been adopted, her condition improved and increasingly under control. [...] I wish that there will be more and more training and divulgation about rare diseases such as APDS."
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