Unless you have an acute knowledge of medical diseases and conditions, there’s a good chance you’ve never heard of CARD9 Deficiency. CARD9 Deficiency is one of several genetic disorders that are known as syndromes of susceptibility to candidiasis. Like all related syndromes of susceptibility to Candidiasis, CARD9 puts people at risk of developing sicknesses related to fungal infections, specifically from a yeast infection known as Candida.
CARD9 Deficiency is extremely rare and genetic in nature and gets passed from parents to their offspring. In most cases, CARD9 has little to no ill effects as long as the infected person is otherwise healthy. However, in someone with a compromised immune system, CARD9 deficiency can have serious health ramifications. Because of how rare the condition is, there’s a lot that researchers don’t know about CARD9 Deficiency. There’s also no known cure for the condition.
On their own, CARD9 deficiency and other syndromes of susceptibility to candidiasis don’t have a lot of symptoms. These conditions can, however, lead to the development of symptoms because of what they do to your immune system.
Because most of the symptoms you’ll experience are a result of the yeast infection candidiasis that results from CARD9 deficiency, here are additional symptoms to watch out for.
However, these signs and symptoms mimic many of the same ones of other conditions, the only way to know for sure if you have CARD9 deficiency is with genetic testing.
CARD9 Deficiency and other syndromes of susceptibility to candidiasis are genetic conditions that get passed from parents to their children. They’re known as “inborn errors of immunity,” and cause a person’s immune system to function improperly. Typically, this results in the immune system mistaking its own tissue as foreign invaders, leading to an immune system that attacks itself.
In order for a child to have CARD9 deficiency, both of the parents must be carriers of the CARD9 gene mutation. If only one parent is a carrier, the mutation can get passed on to the child, but they won’t develop CARD9 deficiency. If a person does have CARD9 deficiency, they will have the condition from the moment they’re born until the day they pass away.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
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
The only way to diagnose CARD9 deficiency and other syndromes of susceptibility to candidiasis is with genetic testing. Your doctor will conduct molecular genetic testing to check for mutations in the CARD9 gene. If a mutation is found in one or both of your parents, your doctor will then test you. Typically, this is done soon after childbirth so that an early diagnosis and immediate treatment are possible.
Unfortunately, there’s no known cure for CARD9 deficiency and other syndromes of susceptibility to candidiasis. They’re chronic conditions that never go away. However, in most cases, CARD9 deficiency results in fairly minor symptoms, especially in an otherwise healthy individual. In someone with a compromised immune system, however, CARD9 deficiency can be extremely dangerous.
The biggest risk is that repeated fungal infections will eventually result in sepsis, meningitis, and other life-threatening infections of the brain, heart, and internal organs. Therefore, early treatment and management are extremely important. While there’s no cure for CARD9 deficiency, G-CSF Therapy can help treat resulting fungal infections and ease the symptoms of CARD9 deficiency.
Additionally, oral and IV drugs and medications can help with symptoms related to CARD9 deficiency.