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Interferon gamma receptor deficiency(IFNGRD)

MedGen UID:
450530
•Concept ID:
C1112429
•
Disease or Syndrome
Synonym: IFNGRD

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Safe and effective off-the-shelf immunotherapy based on CAR.CD123-NK cells for the treatment of acute myeloid leukaemia.
Caruso S, De Angelis B, Del Bufalo F, Ciccone R, Donsante S, Volpe G, Manni S, Guercio M, Pezzella M, Iaffaldano L, Silvestris DA, Sinibaldi M, Di Cecca S, Pitisci A, Velardi E, Merli P, Algeri M, Lodi M, Paganelli V, Serafini M, Riminucci M, Locatelli F, Quintarelli C
J Hematol Oncol 2022 Nov 5;15(1):163. doi: 10.1186/s13045-022-01376-3. PMID: 36335396Free PMC Article
Generation of a Broadly Useful Model for COVID-19 Pathogenesis, Vaccination, and Treatment.
Sun J, Zhuang Z, Zheng J, Li K, Wong RL, Liu D, Huang J, He J, Zhu A, Zhao J, Li X, Xi Y, Chen R, Alshukairi AN, Chen Z, Zhang Z, Chen C, Huang X, Li F, Lai X, Chen D, Wen L, Zhuo J, Zhang Y, Wang Y, Huang S, Dai J, Shi Y, Zheng K, Leidinger MR, Chen J, Li Y, Zhong N, Meyerholz DK, McCray PB Jr, Perlman S, Zhao J
Cell 2020 Aug 6;182(3):734-743.e5. Epub 2020 Jun 10 doi: 10.1016/j.cell.2020.06.010. PMID: 32643603Free PMC Article
White blood cell defects: molecular discoveries and clinical management.
Uzel G, Holland SM
Curr Allergy Asthma Rep 2002 Sep;2(5):385-91. doi: 10.1007/s11882-002-0071-5. PMID: 12165204

Recent clinical studies

Etiology

Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report.
Esmaeilzadeh H, Chavoshzadeh Z, Nabavizadeh SH, Alyasin S, Amanati A, Askarisarvestani A
BMC Pediatr 2023 Jun 5;23(1):278. doi: 10.1186/s12887-023-04093-z. PMID: 37277724Free PMC Article
Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease.
Auld B, Urquhart D, Walsh M, Nourse C, Harris MA
Pediatrics 2011 May;127(5):e1352-5. Epub 2011 Apr 4 doi: 10.1542/peds.2010-0387. PMID: 21464185

Diagnosis

Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report.
Esmaeilzadeh H, Chavoshzadeh Z, Nabavizadeh SH, Alyasin S, Amanati A, Askarisarvestani A
BMC Pediatr 2023 Jun 5;23(1):278. doi: 10.1186/s12887-023-04093-z. PMID: 37277724Free PMC Article
Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.
Lee PP, Lao-Araya M, Yang J, Chan KW, Ma H, Pei LC, Kui L, Mao H, Yang W, Zhao X, Trakultivakorn M, Lau YL
Front Immunol 2019;10:2189. Epub 2019 Sep 13 doi: 10.3389/fimmu.2019.02189. PMID: 31572394Free PMC Article
Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease.
Auld B, Urquhart D, Walsh M, Nourse C, Harris MA
Pediatrics 2011 May;127(5):e1352-5. Epub 2011 Apr 4 doi: 10.1542/peds.2010-0387. PMID: 21464185
Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
Edgar JD, Smyth AE, Pritchard J, Lammas D, Jouanguy E, Hague R, Novelli V, Dempsey S, Sweeney L, Taggart AJ, O'hara D, Casanova JL, Kumararatne DS
J Pediatr 2001 Oct;139(4):600-3. doi: 10.1067/mpd.2001.117068. PMID: 11598613
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.
Fieschi C, Dupuis S, Picard C, Smith CI, Holland SM, Casanova JL
Pediatrics 2001 Apr;107(4):E48. doi: 10.1542/peds.107.4.e48. PMID: 11335769

Therapy

Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease.
Auld B, Urquhart D, Walsh M, Nourse C, Harris MA
Pediatrics 2011 May;127(5):e1352-5. Epub 2011 Apr 4 doi: 10.1542/peds.2010-0387. PMID: 21464185
Osteomyelitis of the calcaneus due to atypical Mycobacterium.
Michelarakis J, Varouhaki C
Foot Ankle Surg 2009;15(2):106-8. Epub 2008 Oct 31 doi: 10.1016/j.fas.2008.07.003. PMID: 19410179
Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis.
Edgar JD, Smyth AE, Pritchard J, Lammas D, Jouanguy E, Hague R, Novelli V, Dempsey S, Sweeney L, Taggart AJ, O'hara D, Casanova JL, Kumararatne DS
J Pediatr 2001 Oct;139(4):600-3. doi: 10.1067/mpd.2001.117068. PMID: 11598613
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.
Fieschi C, Dupuis S, Picard C, Smith CI, Holland SM, Casanova JL
Pediatrics 2001 Apr;107(4):E48. doi: 10.1542/peds.107.4.e48. PMID: 11335769
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL
N Engl J Med 1996 Dec 26;335(26):1956-61. doi: 10.1056/NEJM199612263352604. PMID: 8960475

Prognosis

Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease.
Auld B, Urquhart D, Walsh M, Nourse C, Harris MA
Pediatrics 2011 May;127(5):e1352-5. Epub 2011 Apr 4 doi: 10.1542/peds.2010-0387. PMID: 21464185
Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.
Moilanen P, Korppi M, Hovi L, Chapgier A, Feinberg J, Kong XF, Boisson-Dupuis S, Arola M, Casanova JL, Saarinen-Pihkala UM
Pediatr Infect Dis J 2009 Jul;28(7):658-60. doi: 10.1097/INF.0b013e318195092e. PMID: 19451859
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency.
Pierre-Audigier C, Jouanguy E, Lamhamedi S, Altare F, Rauzier J, Vincent V, Canioni D, Emile JF, Fischer A, Blanche S, Gaillard JL, Casanova JL
Clin Infect Dis 1997 May;24(5):982-4. doi: 10.1093/clinids/24.5.982. PMID: 9142806
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL
N Engl J Med 1996 Dec 26;335(26):1956-61. doi: 10.1056/NEJM199612263352604. PMID: 8960475

Clinical prediction guides

High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.
Fieschi C, Dupuis S, Picard C, Smith CI, Holland SM, Casanova JL
Pediatrics 2001 Apr;107(4):E48. doi: 10.1542/peds.107.4.e48. PMID: 11335769

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