immunodeficiency 82 with systemic inflammation
A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.
Also known as: IMD82, immunodeficiency 82 with systemic inflammation, immunodeficiency with systemic inflammation.
Category: General
Symptoms associated with immunodeficiency 82 with systemic inflammation
The following symptoms have been associated with immunodeficiency 82 with systemic inflammation in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Intractable diarrhea
Information about Intractable diarrhea....
Joint swelling
Information about Joint swelling....
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Skin rash
A red eruption of the skin....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Weight loss
Reduction of total body weight....
Tests used to investigate immunodeficiency 82 with systemic inflammation
Healthcare providers may order these tests when evaluating immunodeficiency 82 with systemic inflammation. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with immunodeficiency 82 with systemic inflammation, which is why a clinical evaluation is important.
Hyper-Igd syndrome
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Reactive arthritis
Reactive arthritis is a medical condition that may be associated with various symptoms and signs....
Tumor necrosis factor receptor 1 associated periodic syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome is a medical condition that may be associated wi...
Yao syndrome
An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the dis...
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive is a medical condition that may b...
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
autoinflammatory syndrome, familial, X-linked, Behcet-like 2 is a medical condition that may be associated wit...
Frequently Asked Questions
What is immunodeficiency 82 with systemic inflammation?
immunodeficiency 82 with systemic inflammation is a health condition described in medical literature. A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.
What are the symptoms of immunodeficiency 82 with systemic inflammation?
immunodeficiency 82 with systemic inflammation is associated with 8 symptoms in the medical literature we index, including Abdominal pain, Diarrhea, Intractable diarrhea, Joint swelling, Recurrent fever, Skin rash. Symptoms vary widely between individuals.
How is immunodeficiency 82 with systemic inflammation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with immunodeficiency 82 with systemic inflammation include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have immunodeficiency 82 with systemic inflammation, please discuss your symptoms with a qualified healthcare provider.