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Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

MedGen UID:
1789166
•Concept ID:
CN036360
•
Disease or Syndrome
Synonyms: IFNGR1 deficiency; Interferon gamma, receptor 1, deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020530
Orphanet: ORPHA99898

Definition

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH
J Formos Med Assoc 2011 Dec;110(12):750-8. Epub 2011 Dec 23 doi: 10.1016/j.jfma.2011.11.004. PMID: 22248828

Recent clinical studies

Etiology

Mendelian susceptibility to mycobacterial diseases: state of the art.
Noma K, Mizoguchi Y, Tsumura M, Okada S
Clin Microbiol Infect 2022 Nov;28(11):1429-1434. Epub 2022 Mar 11 doi: 10.1016/j.cmi.2022.03.004. PMID: 35283318
Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH
J Formos Med Assoc 2011 Dec;110(12):750-8. Epub 2011 Dec 23 doi: 10.1016/j.jfma.2011.11.004. PMID: 22248828

Diagnosis

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O
Pediatr Blood Cancer 2015 Nov;62(11):2036-9. Epub 2015 Jul 14 doi: 10.1002/pbc.25625. PMID: 26173802Free PMC Article
Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.
Taramasso L, Boisson-Dupuis S, Garrè ML, Bondi E, Cama A, Nozza P, Morana G, Casanova JL, Marazzi MG
J Clin Immunol 2014 Nov;34(8):922-7. Epub 2014 Sep 14 doi: 10.1007/s10875-014-0098-0. PMID: 25216720
Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood.
Remus N, Reichenbach J, Picard C, Rietschel C, Wood P, Lammas D, Kumararatne DS, Casanova JL
Pediatr Res 2001 Jul;50(1):8-13. doi: 10.1203/00006450-200107000-00005. PMID: 11420412

Therapy

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O
Pediatr Blood Cancer 2015 Nov;62(11):2036-9. Epub 2015 Jul 14 doi: 10.1002/pbc.25625. PMID: 26173802Free PMC Article
Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.
Taramasso L, Boisson-Dupuis S, Garrè ML, Bondi E, Cama A, Nozza P, Morana G, Casanova JL, Marazzi MG
J Clin Immunol 2014 Nov;34(8):922-7. Epub 2014 Sep 14 doi: 10.1007/s10875-014-0098-0. PMID: 25216720

Prognosis

Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection.
Döffinger R, Altare F, Casanova JL
Microbes Infect 2000 Nov;2(13):1553-7. doi: 10.1016/s1286-4579(00)01311-3. PMID: 11113374

Clinical prediction guides

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.
Haake K, Neehus AL, Buchegger T, Kühnel MP, Blank P, Philipp F, Oleaga-Quintas C, Schulz A, Grimley M, Goethe R, Jonigk D, Kalinke U, Boisson-Dupuis S, Casanova JL, Bustamante J, Lachmann N
Cells 2020 Feb 19;9(2) doi: 10.3390/cells9020483. PMID: 32093117Free PMC Article
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O
Pediatr Blood Cancer 2015 Nov;62(11):2036-9. Epub 2015 Jul 14 doi: 10.1002/pbc.25625. PMID: 26173802Free PMC Article
Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection.
Döffinger R, Altare F, Casanova JL
Microbes Infect 2000 Nov;2(13):1553-7. doi: 10.1016/s1286-4579(00)01311-3. PMID: 11113374

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