CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." [1] . The disorder usually manifests in childhood and can be life-threatening.

Learn about CHAPLE Disease: an ultra-rare and severe genetic disorder involving protein loss in the gastrointestinal tract, affecting less than 100 known individuals.

Aug 18, 2023 · Veopoz is the first FDA-approved treatment for CHAPLE disease. An initial dose of Veopoz is administered intravenously, followed by weekly injections given subcutaneously (below the skin) by a...

Jun 29, 2017 · Investigators at the National Institutes of Health and international colleagues have discovered a genetic cause and potential treatment strategy for a rare immune disorder called CHAPLE disease. Children with the condition can experience severe gastrointestinal distress and deep vein blood clots.

Feb 17, 2024 · These innovative new approaches are being adopted, and in April, 2022, the US Food and Drug Administration (FDA) approved the repositioning of the phosphoinositide 3 kinase inhibitor alpelisib as a treatment in CLOVES syndrome—a rare disease caused by the somatic gain-of-function mutation of PIK3CA —solely on the basis of a retrospective data an...

Jul 6, 2017 · CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and o …

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease) is a lethal disease caused by genetic loss of the complement regulatory protein CD55 leading to overactivation of complement and innate immunity ...

Aug 18, 2023 · CHAPLE disease, which is also known as CD55-deficient protein-losing enteropathy, is driven by an overactivation of the complement system, which serves as a mechanism for destroying microbes. Those living with CHAPLE cannot regulate complement activity because of mutations in their CD55 gene.

Recently, CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and PLE (the CHAPLE syndrome) has been identified as a monogenic form of PIL. Surprisingly, loss of CD55, a key regulator of complement system leads to a predominantly gut condition.

CHAPLE is associated with GI symptoms and vascular thrombosis and is caused by loss-of-function variants in the gene encoding the complement regulatory protein CD55. The disease is caused by...