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Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

MedGen UID:
383872
Concept ID:
C1856255
Disease or Syndrome
Synonyms: CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE; CYBA DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): CYBA (16q24.2)
OMIM®: 233690

Definition

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.' [from OMIM]

Additional description

From GHR
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 effectively from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease have recurrent bacterial and fungal infections. People with this condition often have areas of inflammation (granulomas) in various tissues that can be damaging 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 are susceptible to a condition 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 can lead to stomach pain, diarrhea, 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 and throat. 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, bladder, and genitalia. 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 such as myasthenia gravis, which causes muscle weakness, and juvenile rheumatoid arthritis, which causes joint pain and swelling. Autoimmune disorders 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.  http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease

Clinical features

Osteomyelitis due to immunodeficiency
MedGen UID:
812660
Concept ID:
C3806330
Finding
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hepatic abscesses due to immunodeficiency
MedGen UID:
334940
Concept ID:
C1844380
Finding
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Rectal abscess
MedGen UID:
500990
Concept ID:
CN004629
Finding
A collection of pus in the area of the rectum.
Recurrent bacterial skin infections
MedGen UID:
322727
Concept ID:
C1835686
Finding
Eczematoid dermatitis
MedGen UID:
504671
Concept ID:
CN000914
Finding
Discoid lupus erythematosus
MedGen UID:
506064
Concept ID:
CN006497
Finding
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
MedGen UID:
375405
Concept ID:
C1844385
Finding
Granulomatosis
MedGen UID:
505422
Concept ID:
CN002674
Finding
Formation of multiple granulomas, i.e., localized nodular foci inflammation.
Negative nitroblue tetrazolium (NBT) reduction test
MedGen UID:
505482
Concept ID:
CN002891
Finding
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.
Deficiency or absence of cytochrome b(-245)
MedGen UID:
375407
Concept ID:
C1844390
Finding
Decreased activity of NADPH oxidase
MedGen UID:
336679
Concept ID:
C1844394
Finding
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Finding
A clinical finding indicating that a lymph node is enlarged. Causes include viral and bacterial infections and cancers that affect the lymph nodes.
Recurrent bacterial skin infections
MedGen UID:
322727
Concept ID:
C1835686
Finding
Hepatic abscesses due to immunodeficiency
MedGen UID:
334940
Concept ID:
C1844380
Finding
Cellulitis due to immunodeficiency
MedGen UID:
334942
Concept ID:
C1844382
Finding
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
MedGen UID:
375405
Concept ID:
C1844385
Finding
Recurrent Staphylococcus aureus infections
MedGen UID:
392925
Concept ID:
C2673462
Finding
Osteomyelitis due to immunodeficiency
MedGen UID:
812660
Concept ID:
C3806330
Finding
Recurrent Aspergillus infections
MedGen UID:
500936
Concept ID:
CN002474
Finding
An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
Recurrent E. coli infections
MedGen UID:
505338
Concept ID:
CN002486
Finding
Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
Recurrent Serratia marcescens infections
MedGen UID:
505339
Concept ID:
CN002487
Finding
Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
Recurrent Klebsiella infections
MedGen UID:
505340
Concept ID:
CN002488
Finding
Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
Lymphadenitis
MedGen UID:
505370
Concept ID:
CN002565
Finding
Inflammation of a lymph node.
Recurrent Burkholderia cepacia infections
MedGen UID:
505371
Concept ID:
CN002567
Finding
Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
Granulomatosis
MedGen UID:
505422
Concept ID:
CN002674
Finding
Formation of multiple granulomas, i.e., localized nodular foci inflammation.
Negative nitroblue tetrazolium (NBT) reduction test
MedGen UID:
505482
Concept ID:
CN002891
Finding
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.
Rectal abscess
MedGen UID:
500990
Concept ID:
CN004629
Finding
A collection of pus in the area of the rectum.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Cellulitis due to immunodeficiency
MedGen UID:
334942
Concept ID:
C1844382
Finding

Recent clinical studies

Etiology

Wang H, Albadawi H, Siddiquee Z, Stone JM, Panchenko MP, Watkins MT, Stone JR
Cardiovasc Pathol 2014 Jan-Feb;23(1):35-42. Epub 2013 Sep 12 doi: 10.1016/j.carpath.2013.08.003. [Epub ahead of print] PMID: 24035466

Therapy

Sfaihi L, Maaloul I, Fourati H, Stasia MJ, Mnif Z, Hachicha M
Fetal Pediatr Pathol 2013 Jul;32(4):241-5. Epub 2012 Sep 24 doi: 10.3109/15513815.2012.721479. [Epub ahead of print] PMID: 23002911

Prognosis

Sfaihi L, Maaloul I, Fourati H, Stasia MJ, Mnif Z, Hachicha M
Fetal Pediatr Pathol 2013 Jul;32(4):241-5. Epub 2012 Sep 24 doi: 10.3109/15513815.2012.721479. [Epub ahead of print] PMID: 23002911

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