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Immunodeficiency 28(IMD28)

MedGen UID:
862384
•Concept ID:
C4013947
•
Disease or Syndrome
Synonyms: IFNGR2 DEFICIENCY; IMD28
 
Gene (location): IFNGR2 (21q22.11)
 
Monarch Initiative: MONDO:0013953
OMIM®: 614889

Definition

IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A; 209950). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG; 147570). There is also a rare partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008). [from OMIM]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Recurrent mycobacterial infections
MedGen UID:
869021
•Concept ID:
C4023438
•
Finding
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency 28

Professional guidelines

PubMed

Long-acting agents for HIV treatment and prevention.
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Nat Med 2022 Aug;28(8):1542-1543. doi: 10.1038/s41591-022-01917-w. PMID: 35869309
The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update.
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Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
2017 European guidelines for the management of genital herpes.
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Int J STD AIDS 2017 Dec;28(14):1366-1379. Epub 2017 Aug 24 doi: 10.1177/0956462417727194. PMID: 28836892

Recent clinical studies

Etiology

Implications of hematopoietic stem cells heterogeneity for gene therapies.
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Int Rev Immunol 2009;28(5):335-66. doi: 10.1080/08830180902995645. PMID: 19811314
Hypogammaglobulinaemia.
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Immunol Allergy Clin North Am 2008 Nov;28(4):691-713, vii. doi: 10.1016/j.iac.2008.06.003. PMID: 18940570
Genetic diagnosis of primary immune deficiencies.
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT
Immunol Allergy Clin North Am 2008 May;28(2):387-412, x. doi: 10.1016/j.iac.2008.01.004. PMID: 18424339
Common variable immunodeficiency: an update on etiology and management.
Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R
Immunol Allergy Clin North Am 2008 May;28(2):367-86, ix-x. doi: 10.1016/j.iac.2008.01.001. PMID: 18424338

Diagnosis

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Hypogammaglobulinaemia.
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Therapy

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Prognosis

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Immunol Allergy Clin North Am 2008 May;28(2):387-412, x. doi: 10.1016/j.iac.2008.01.004. PMID: 18424339
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Recent systematic reviews

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