Caspase Eight Deficiency State, better known as CEDS, is an extremely rare genetic condition. CEDS results when there’s a mutation in the CASP8 gene, resulting in an immune system that attacks itself. Because of how rare CEDS is, there’s a lot that researchers and experts don’t know about it.
What we do know, however, is that CEDS is a genetic, autoimmune disease for which there’s no known cure. While there isn’t a cure for CEDS, there are treatment options that can decrease the severity of symptoms and improve the quality of life. With an early diagnosis and effective treatment, the outlook is good for people with CEDS.
There are many symptoms, both known and unknown that people with CEDS can have. The most common symptoms include the following.
While these are the three best-known signs and symptoms of CEDS, there are a few additional symptoms that can result. Most of these symptoms are because your immune system attacks various parts of your body, resulting in additional complications.
Doctors will use these clinical signs and symptoms to diagnose CEDS. However, because there are many other conditions that cause similar symptoms, it’s impossible to diagnose CEDS on symptoms alone.
CEDS is an inherited genetic condition that affected people have from the moment they’re born. While you can’t contract CEDS later in life, there are times when symptoms don’t manifest until later. CEDS is caused by a genetic mutation in the CASP8 gene, which is responsible for helping with programmed cell death. Because of the mutation, certain cells don’t die, resulting in a surplus of immune cells.
The exact cause of the CASP8 genetic mutation is unknown, and it’s unclear who is most at risk of developing the condition. What we do know is that for a child to have CEDS, both of their parents have to be carriers of the gene mutation. If only one parent has the mutation, it can be passed on to you, and you, too, become a carrier of the mutation. However, you won’t develop CEDS unless both parents are carriers.
Autoimmune Lymphoproliferative Syndrome (ALPS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
Doctors will consider your clinical symptoms when diagnosing CEDS. However, symptoms alone aren’t enough for a concrete diagnosis. If they suspect CEDS, your doctor will order additional blood and body fluid tests. Your doctor will then check for the following things, which could indicate CEDS.
Based on these tests and your symptoms, your doctor will then ask your parents to be tested to determine if they’re carriers of the CASP8 genetic mutation. If they are, a diagnosis of CEDS is almost certain.
Because of how rare CEDS is, experts haven’t been able to devise a specific treatment. There’s also no cure to completely eradicate the condition. To date, immunoglobulin and prophylactic acyclovir IV treatment have shown the most success in treating patients with CEDS. Doctors will also use medications to treat and prevent recurring lung and sinus infections and to treat other symptoms as they arise.
There’s ongoing research to find out more about CEDS and to discover new and better ways to treat it. However, with an early diagnosis and the treatments that are currently available, most people with CEDS live fairly long and normal lives.