Chronic granulomatous disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes.Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system.Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs.Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.
Functional neutrophil defectsChronic granulomatous disease is a primary immune deficiency marked by failure to destroy bacteria and fungi phagocytosed by neutrophils and macrophages. Four different genetic types have been identified, among which deficiency of the heavy chain in the cytochrome (X-linked) is the most frequent.
Additional InformationChronic septic granulomatosis is marked by failure to destroy bacteria and fungi phagocytosed by neutrophils and macrophages. The disease affects about 1 in 500,000 people. It is caused by abnormal NADPH oxidase, which produces free oxygen radicals. It can either be an X-linked or an autosomal recessive inherited disease. Four different genetic types have been identified, among which deficiency of the heavy chain in the cytochrome (X-linked) is the most frequent. The main treatment is prevention of bacterial and fungal infections with antibiotics and antifungal agents. In some cases, allogenic haematopoietic stem cell transplantation may be indicated.
Also Known As
Related ICD 10 COdeICD 10 Code D71
Leukocyte adhesion deficiencyLeukocyte adhesion deficiency type III (LAD-III) is a form of Leukocyte adhesion deficiency characterized by both severe bacterial infections and a severe bleeding disorder.
Additional InformationLeukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder. LAD-III is extremely rare: only 17 patients have been reported so far. Usually the first signs occur in infancy or early childhood. Patients present LAD-I life-threatening infections and a Glanzmann thrombasthenia-like bleeding disorder (see these terms). A lack of pus is observed in infected areas. LAD-III is caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in hematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive. Diagnosis is based on clinical findings and complete blood counts revealing leukocytosis with neutrophilia. Platelet aggregation assays and genetic analysis confirm the diagnosis. Differential diagnoses include LAD-I, Glanzmann thrombasthenia (see these terms), and leukemoid reaction. Antenatal diagnosis may be confirmed through biochemical or molecular analysis of chorionic villus cells. Management should focus on controlling infections and includes symptomatic treatment with antibiotics and blood transfusions. Bone marrow transplantation is the only available curative treatment option. Prognosis is poor and death occurs in early infancy if bone marrow transplantation is not performed.
Also Known As
Related ICD 10 COdeICD 10 Code D71