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Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1(CDG1)

MedGen UID:
341102
Concept ID:
C1856251
Disease or Syndrome
Synonyms: CDG1; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY; NCF1, DEFICIENCY OF; NEUTROPHIL CYTOSOL FACTOR 1, DEFICIENCY OF; p47-PHOX, DEFICIENCY OF; SOC2, DEFICIENCY OF; SOLUBLE OXIDASE COMPONENT II, DEFICIENCY OF
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): NCF1 (7q11.23)
OMIM®: 233700

Definition

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.
[from GHR]

Clinical features

Granulomatosis
MedGen UID:
488910
Concept ID:
C0521173
Disease or Syndrome
Formation of multiple granulomas, i.e., localized nodular foci inflammation.
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
MedGen UID:
375405
Concept ID:
C1844385
Finding
Negative nitroblue tetrazolium reduction test
MedGen UID:
336678
Concept ID:
C1844393
Laboratory or Test Result
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Rectal abscess
MedGen UID:
57700
Concept ID:
C0149770
Pathologic Function
A collection of pus in the area of the rectum.
Hepatic abscesses due to immunodeficiency
MedGen UID:
334940
Concept ID:
C1844380
Finding
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. It is not dangerous, but most types cause red, swollen and itchy skin. Factors that can cause eczema include other diseases, irritating substances, allergies and your genetic makeup. Eczema is not contagious. The most common type of eczema is atopic dermatitis. It is an allergic condition that makes your skin dry and itchy. It is most common in babies and children. Eczema is a chronic disease. You can prevent some types of eczema by avoiding irritants, stress, and the things you are allergic to.
Infection due to Escherichia coli
MedGen UID:
4543
Concept ID:
C0014836
Disease or Syndrome
E. coli is the name of a type of bacteria that lives in your intestines. Most types of E. coli are harmless. However, some types can make you sick and cause diarrhea. One type causes travelers' diarrhea. The worst type of E. coli causes bloody diarrhea, and can sometimes cause kidney failure and even death. These problems are most likely to occur in children and in adults with weak immune systems. . You can get E. coli infections by eating foods containing the bacteria. Symptoms of infection include. -Nausea or vomiting. -Severe abdominal cramps. -Watery or very bloody diarrhea. -Fatigue. -Fever. To help avoid food poisoning and prevent infection, handle food safely. Cook meat well, wash fruits and vegetables before eating or cooking them, and avoid unpasteurized milk and juices. You can also get the infection by swallowing water in a swimming pool contaminated with human waste. Most cases of E. coli infection get better without treatment in 5 to 10 days. NIH: National Institute of Allergy and Infectious Diseases.
Lymphadenitis
MedGen UID:
7410
Concept ID:
C0024205
Disease or Syndrome
Inflammation of a lymph node.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Rectal abscess
MedGen UID:
57700
Concept ID:
C0149770
Pathologic Function
A collection of pus in the area of the rectum.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Finding
Enlargment (swelling) of a lymph node.
Granulomatosis
MedGen UID:
488910
Concept ID:
C0521173
Disease or Syndrome
Formation of multiple granulomas, i.e., localized nodular foci inflammation.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bacterial skin infections
MedGen UID:
322727
Concept ID:
C1835686
Finding
Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.
Hepatic abscesses due to immunodeficiency
MedGen UID:
334940
Concept ID:
C1844380
Finding
Cellulitis due to immunodeficiency
MedGen UID:
334942
Concept ID:
C1844382
Finding
The presence of cellulitis (a diffuse inflammation of connective tissue) on the basis of an immunodeficiency.
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
MedGen UID:
375405
Concept ID:
C1844385
Finding
Negative nitroblue tetrazolium reduction test
MedGen UID:
336678
Concept ID:
C1844393
Laboratory or Test Result
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
Recurrent Staphylococcus aureus infections
MedGen UID:
392925
Concept ID:
C2673462
Finding
Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Osteomyelitis due to immunodeficiency
MedGen UID:
812660
Concept ID:
C3806330
Finding
Recurrent Klebsiella infections
MedGen UID:
867386
Concept ID:
C4021751
Finding
Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
Recurrent Aspergillus infections
MedGen UID:
867387
Concept ID:
C4021752
Finding
An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
Recurrent Burkholderia cepacia infections
MedGen UID:
871196
Concept ID:
C4025673
Finding
Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
Recurrent Serratia marcescens infections
MedGen UID:
871204
Concept ID:
C4025682
Finding
Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
Decreased activity of NADPH oxidase
MedGen UID:
336679
Concept ID:
C1844394
Finding
Osteomyelitis due to immunodeficiency
MedGen UID:
812660
Concept ID:
C3806330
Finding
Cellulitis due to immunodeficiency
MedGen UID:
334942
Concept ID:
C1844382
Finding
The presence of cellulitis (a diffuse inflammation of connective tissue) on the basis of an immunodeficiency.
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. It is not dangerous, but most types cause red, swollen and itchy skin. Factors that can cause eczema include other diseases, irritating substances, allergies and your genetic makeup. Eczema is not contagious. The most common type of eczema is atopic dermatitis. It is an allergic condition that makes your skin dry and itchy. It is most common in babies and children. Eczema is a chronic disease. You can prevent some types of eczema by avoiding irritants, stress, and the things you are allergic to.
Discoid lupus erythematosus
MedGen UID:
7402
Concept ID:
C0024138
Disease or Syndrome
A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).
Recurrent bacterial skin infections
MedGen UID:
322727
Concept ID:
C1835686
Finding
Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.

Recent clinical studies

Etiology

Sibley CT, Estwick T, Zavodni A, Huang CY, Kwan AC, Soule BP, Long Priel DA, Remaley AT, Rudman Spergel AK, Turkbey EB, Kuhns DB, Holland SM, Malech HL, Zarember KA, Bluemke DA, Gallin JI
Circulation 2014 Dec 2;130(23):2031-9. Epub 2014 Sep 19 doi: 10.1161/CIRCULATIONAHA.113.006824. [Epub ahead of print] PMID: 25239440Free PMC Article

Diagnosis

Sibley CT, Estwick T, Zavodni A, Huang CY, Kwan AC, Soule BP, Long Priel DA, Remaley AT, Rudman Spergel AK, Turkbey EB, Kuhns DB, Holland SM, Malech HL, Zarember KA, Bluemke DA, Gallin JI
Circulation 2014 Dec 2;130(23):2031-9. Epub 2014 Sep 19 doi: 10.1161/CIRCULATIONAHA.113.006824. [Epub ahead of print] PMID: 25239440Free PMC Article
Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D
Eur J Hum Genet 2013 Oct;21(10):1079-84. Epub 2013 Jan 23 doi: 10.1038/ejhg.2012.310. [Epub ahead of print] PMID: 23340515Free PMC Article

Therapy

Sibley CT, Estwick T, Zavodni A, Huang CY, Kwan AC, Soule BP, Long Priel DA, Remaley AT, Rudman Spergel AK, Turkbey EB, Kuhns DB, Holland SM, Malech HL, Zarember KA, Bluemke DA, Gallin JI
Circulation 2014 Dec 2;130(23):2031-9. Epub 2014 Sep 19 doi: 10.1161/CIRCULATIONAHA.113.006824. [Epub ahead of print] PMID: 25239440Free PMC Article

Clinical prediction guides

Kim JJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Byeon JH, Sohn S, Hong YM, Jang GY, Lee JK; Korean Kawasaki Disease Genetics Consortium
Pediatr Cardiol 2015 Feb;36(2):438-44. Epub 2014 Sep 30 doi: 10.1007/s00246-014-1032-1. [Epub ahead of print] PMID: 25266886
Sibley CT, Estwick T, Zavodni A, Huang CY, Kwan AC, Soule BP, Long Priel DA, Remaley AT, Rudman Spergel AK, Turkbey EB, Kuhns DB, Holland SM, Malech HL, Zarember KA, Bluemke DA, Gallin JI
Circulation 2014 Dec 2;130(23):2031-9. Epub 2014 Sep 19 doi: 10.1161/CIRCULATIONAHA.113.006824. [Epub ahead of print] PMID: 25239440Free PMC Article

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