U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 32B(IMD32B)

MedGen UID:
865178
Concept ID:
C4016741
Disease or Syndrome
Synonyms: IMD32B; IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): IRF8 (16q24.1)
 
Monarch Initiative: MONDO:0009194
OMIM®: 226990
Orphanet: ORPHA2566

Definition

Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017). [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Granulocytic hyperplasia
MedGen UID:
868628
Concept ID:
C4023028
Disease or Syndrome
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Neutrophilia
MedGen UID:
57729
Concept ID:
C0151683
Finding
Increased number of neutrophils circulating in blood.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Monocytopenia
MedGen UID:
507013
Concept ID:
C0427544
Finding
An decreased number of circulating monocytes.
Impaired oxidative burst
MedGen UID:
898272
Concept ID:
C4280805
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.
BCGitis
MedGen UID:
1684722
Concept ID:
C5139070
Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Abnormal circulating IgG concentration
MedGen UID:
1687987
Concept ID:
C5139422
Finding
An abnormal deviation from normal levels of IgG immunoglobulin in blood.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.

Recent clinical studies

Etiology

Mekue LM, Nkenfou CN, Ndukong E, Yatchou L, Dambaya B, Ngoufack MN, Kameni JK, Kuiaté JR, Ndjolo A
BMC Pediatr 2019 Jul 23;19(1):249. doi: 10.1186/s12887-019-1620-6. PMID: 31337377Free PMC Article

Diagnosis

Barton JC, Bertoli LF, Acton RT
BMC Med Genet 2003 Jun 12;4:3. doi: 10.1186/1471-2350-4-3. PMID: 12803653Free PMC Article

Clinical prediction guides

Enwonwu CO
Eur J Cancer B Oral Oncol 1996 Jul;32B(4):271-4. doi: 10.1016/0964-1955(95)00089-5. PMID: 8776425

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...