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Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection(IMD44)

MedGen UID:
904009
•Concept ID:
C4225260
•
Disease or Syndrome
Synonym: Immunodeficiency 44
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)
 
Gene (location): STAT2 (12q13.3)
 
Monarch Initiative: MONDO:0014715
OMIM®: 616636
Orphanet: ORPHA431166

Definition

Immunodeficiency-44 (IMD44) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015). [from OMIM]

Clinical features

From HPO
Encephalopathy
MedGen UID:
39314
•Concept ID:
C0085584
•
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
See: Feature record | Search on this feature
Elevated CSF neopterin level
MedGen UID:
893002
•Concept ID:
C4073152
•
Finding
Increased concentration of neopterin in the cerebrospinal fluid (CSF).
See: Feature record | Search on this feature
Lymphopenia
MedGen UID:
7418
•Concept ID:
C0024312
•
Disease or Syndrome
A reduced number of lymphocytes in the blood.
See: Feature record | Search on this feature
Decreased circulating IgA level
MedGen UID:
57934
•Concept ID:
C0162538
•
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
See: Feature record | Search on this feature
Decreased circulating total IgM
MedGen UID:
116095
•Concept ID:
C0239989
•
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
See: Feature record | Search on this feature
Severe viral infection
MedGen UID:
479058
•Concept ID:
C3277428
•
Finding
An unusually severe viral infection.
See: Feature record | Search on this feature
Post-vaccination measles
MedGen UID:
1688337
•Concept ID:
C5139071
•
Disease or Syndrome
Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.
See: Feature record | Search on this feature
Abnormal circulating IgG level
MedGen UID:
1687987
•Concept ID:
C5139422
•
Finding
An abnormal deviation from normal levels of IgG immunoglobulin in blood.
See: Feature record | Search on this feature
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
•Concept ID:
C0151905
•
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
See: Feature record | Search on this feature
Increased circulating lactate concentration
MedGen UID:
332209
•Concept ID:
C1836440
•
Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Professional guidelines

PubMed

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla E, Green RF, Knuth M, Khoury MJ, Dotson WD, Gundlapalli A
Clin Immunol 2022 Oct;243:109097. Epub 2022 Aug 13 doi: 10.1016/j.clim.2022.109097. PMID: 35973637Free PMC Article
Newborn screening for severe combined immunodeficiency-Coming to a region near you soon.
Elliman DAC, Gennery AR
Clin Exp Immunol 2021 Sep;205(3):343-345. Epub 2021 Jul 8 doi: 10.1111/cei.13642. PMID: 34235744Free PMC Article
Vaccine use in primary immunodeficiency disorders.
Principi N, Esposito S
Vaccine 2014 Jun 24;32(30):3725-31. Epub 2014 May 14 doi: 10.1016/j.vaccine.2014.05.022. PMID: 24837766

Recent clinical studies

Etiology

Efficacy, safety, and immunogenicity of an Escherichia coli-produced Human Papillomavirus (16 and 18) L1 virus-like-particle vaccine: end-of-study analysis of a phase 3, double-blind, randomised, controlled trial.
Zhao FH, Wu T, Hu YM, Wei LH, Li MQ, Huang WJ, Chen W, Huang SJ, Pan QJ, Zhang X, Hong Y, Zhao C, Li Q, Chu K, Jiang YF, Li MZ, Tang J, Li CH, Guo DP, Ke LD, Wu X, Yao XM, Nie JH, Lin BZ, Zhao YQ, Guo M, Zhao J, Zheng FZ, Xu XQ, Su YY, Zhang QF, Sun G, Zhu FC, Li SW, Li YM, Pan HR, Zhang J, Qiao YL, Xia NS
Lancet Infect Dis 2022 Dec;22(12):1756-1768. Epub 2022 Aug 26 doi: 10.1016/S1473-3099(22)00435-2. PMID: 36037823
Cervical cancer prevention and control in women living with human immunodeficiency virus.
Castle PE, Einstein MH, Sahasrabuddhe VV
CA Cancer J Clin 2021 Nov;71(6):505-526. Epub 2021 Sep 9 doi: 10.3322/caac.21696. PMID: 34499351Free PMC Article
Vaccine Efficacy of ALVAC-HIV and Bivalent Subtype C gp120-MF59 in Adults.
Gray GE, Bekker LG, Laher F, Malahleha M, Allen M, Moodie Z, Grunenberg N, Huang Y, Grove D, Prigmore B, Kee JJ, Benkeser D, Hural J, Innes C, Lazarus E, Meintjes G, Naicker N, Kalonji D, Nchabeleng M, Sebe M, Singh N, Kotze P, Kassim S, Dubula T, Naicker V, Brumskine W, Ncayiya CN, Ward AM, Garrett N, Kistnasami G, Gaffoor Z, Selepe P, Makhoba PB, Mathebula MP, Mda P, Adonis T, Mapetla KS, Modibedi B, Philip T, Kobane G, Bentley C, Ramirez S, Takuva S, Jones M, Sikhosana M, Atujuna M, Andrasik M, Hejazi NS, Puren A, Wiesner L, Phogat S, Diaz Granados C, Koutsoukos M, Van Der Meeren O, Barnett SW, Kanesa-Thasan N, Kublin JG, McElrath MJ, Gilbert PB, Janes H, Corey L; HVTN 702 Study Team
N Engl J Med 2021 Mar 25;384(12):1089-1100. doi: 10.1056/NEJMoa2031499. PMID: 33761206Free PMC Article
Herpes Zoster Risk in Immunocompromised Adults in the United States: A Systematic Review.
McKay SL, Guo A, Pergam SA, Dooling K
Clin Infect Dis 2020 Oct 23;71(7):e125-e134. doi: 10.1093/cid/ciz1090. PMID: 31677266Free PMC Article
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article

Diagnosis

Advances in clinical outcomes: What we have learned during the COVID-19 pandemic.
Al-Musa A, LaBere B, Habiballah S, Nguyen AA, Chou J
J Allergy Clin Immunol 2022 Feb;149(2):569-578. Epub 2021 Dec 24 doi: 10.1016/j.jaci.2021.12.775. PMID: 34958811Free PMC Article
Vaccine Efficacy of ALVAC-HIV and Bivalent Subtype C gp120-MF59 in Adults.
Gray GE, Bekker LG, Laher F, Malahleha M, Allen M, Moodie Z, Grunenberg N, Huang Y, Grove D, Prigmore B, Kee JJ, Benkeser D, Hural J, Innes C, Lazarus E, Meintjes G, Naicker N, Kalonji D, Nchabeleng M, Sebe M, Singh N, Kotze P, Kassim S, Dubula T, Naicker V, Brumskine W, Ncayiya CN, Ward AM, Garrett N, Kistnasami G, Gaffoor Z, Selepe P, Makhoba PB, Mathebula MP, Mda P, Adonis T, Mapetla KS, Modibedi B, Philip T, Kobane G, Bentley C, Ramirez S, Takuva S, Jones M, Sikhosana M, Atujuna M, Andrasik M, Hejazi NS, Puren A, Wiesner L, Phogat S, Diaz Granados C, Koutsoukos M, Van Der Meeren O, Barnett SW, Kanesa-Thasan N, Kublin JG, McElrath MJ, Gilbert PB, Janes H, Corey L; HVTN 702 Study Team
N Engl J Med 2021 Mar 25;384(12):1089-1100. doi: 10.1056/NEJMoa2031499. PMID: 33761206Free PMC Article
Human Immunodeficiency Virus 1 (HIV-1): Viral Latency, the Reservoir, and the Cure.
Ventura JD
Yale J Biol Med 2020 Sep;93(4):549-560. Epub 2020 Sep 30 PMID: 33005119Free PMC Article
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article
Varicella zoster virus infection.
Gershon AA, Breuer J, Cohen JI, Cohrs RJ, Gershon MD, Gilden D, Grose C, Hambleton S, Kennedy PG, Oxman MN, Seward JF, Yamanishi K
Nat Rev Dis Primers 2015 Jul 2;1:15016. doi: 10.1038/nrdp.2015.16. PMID: 27188665Free PMC Article

Therapy

Efficacy, safety, and immunogenicity of an Escherichia coli-produced Human Papillomavirus (16 and 18) L1 virus-like-particle vaccine: end-of-study analysis of a phase 3, double-blind, randomised, controlled trial.
Zhao FH, Wu T, Hu YM, Wei LH, Li MQ, Huang WJ, Chen W, Huang SJ, Pan QJ, Zhang X, Hong Y, Zhao C, Li Q, Chu K, Jiang YF, Li MZ, Tang J, Li CH, Guo DP, Ke LD, Wu X, Yao XM, Nie JH, Lin BZ, Zhao YQ, Guo M, Zhao J, Zheng FZ, Xu XQ, Su YY, Zhang QF, Sun G, Zhu FC, Li SW, Li YM, Pan HR, Zhang J, Qiao YL, Xia NS
Lancet Infect Dis 2022 Dec;22(12):1756-1768. Epub 2022 Aug 26 doi: 10.1016/S1473-3099(22)00435-2. PMID: 36037823
Vaccine Efficacy of ALVAC-HIV and Bivalent Subtype C gp120-MF59 in Adults.
Gray GE, Bekker LG, Laher F, Malahleha M, Allen M, Moodie Z, Grunenberg N, Huang Y, Grove D, Prigmore B, Kee JJ, Benkeser D, Hural J, Innes C, Lazarus E, Meintjes G, Naicker N, Kalonji D, Nchabeleng M, Sebe M, Singh N, Kotze P, Kassim S, Dubula T, Naicker V, Brumskine W, Ncayiya CN, Ward AM, Garrett N, Kistnasami G, Gaffoor Z, Selepe P, Makhoba PB, Mathebula MP, Mda P, Adonis T, Mapetla KS, Modibedi B, Philip T, Kobane G, Bentley C, Ramirez S, Takuva S, Jones M, Sikhosana M, Atujuna M, Andrasik M, Hejazi NS, Puren A, Wiesner L, Phogat S, Diaz Granados C, Koutsoukos M, Van Der Meeren O, Barnett SW, Kanesa-Thasan N, Kublin JG, McElrath MJ, Gilbert PB, Janes H, Corey L; HVTN 702 Study Team
N Engl J Med 2021 Mar 25;384(12):1089-1100. doi: 10.1056/NEJMoa2031499. PMID: 33761206Free PMC Article
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article
Varicella zoster virus infection.
Gershon AA, Breuer J, Cohen JI, Cohrs RJ, Gershon MD, Gilden D, Grose C, Hambleton S, Kennedy PG, Oxman MN, Seward JF, Yamanishi K
Nat Rev Dis Primers 2015 Jul 2;1:15016. doi: 10.1038/nrdp.2015.16. PMID: 27188665Free PMC Article
Vaccine-derived polioviruses.
Burns CC, Diop OM, Sutter RW, Kew OM
J Infect Dis 2014 Nov 1;210 Suppl 1:S283-93. doi: 10.1093/infdis/jiu295. PMID: 25316847

Prognosis

Vaccines to prevent genital herpes.
Egan K, Hook LM, LaTourette P, Desmond A, Awasthi S, Friedman HM
Transl Res 2020 Jun;220:138-152. Epub 2020 Mar 16 doi: 10.1016/j.trsl.2020.03.004. PMID: 32272093Free PMC Article
Herpes Zoster Risk in Immunocompromised Adults in the United States: A Systematic Review.
McKay SL, Guo A, Pergam SA, Dooling K
Clin Infect Dis 2020 Oct 23;71(7):e125-e134. doi: 10.1093/cid/ciz1090. PMID: 31677266Free PMC Article
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group
Blood 2016 Jun 23;127(25):3154-64. Epub 2016 Apr 25 doi: 10.1182/blood-2015-11-679902. PMID: 27114460Free PMC Article
Vaccine use in primary immunodeficiency disorders.
Principi N, Esposito S
Vaccine 2014 Jun 24;32(30):3725-31. Epub 2014 May 14 doi: 10.1016/j.vaccine.2014.05.022. PMID: 24837766

Clinical prediction guides

Antiretroviral Therapy Intensification for Neurocognitive Impairment in Human Immunodeficiency Virus.
Letendre SL, Chen H, McKhann A, Roa J, Vecchio A, Daar ES, Berzins B, Hunt PW, Marra CM, Campbell TB, Coombs RW, Ma Q, Swaminathan S, Macatangay BJC, Morse GD, Miller T, Rusin D, Greninger AL, Ha B, Alston-Smith B, Robertson K, Paul R, Spudich S; A5324 Study Team
Clin Infect Dis 2023 Sep 18;77(6):866-874. doi: 10.1093/cid/ciad265. PMID: 37183889Free PMC Article
An immunologist's perspective on anti-COVID-19 vaccines.
Milota T, Strizova Z, Smetanova J, Sediva A
Curr Opin Allergy Clin Immunol 2021 Dec 1;21(6):545-552. doi: 10.1097/ACI.0000000000000788. PMID: 34545040
Vaccines to prevent genital herpes.
Egan K, Hook LM, LaTourette P, Desmond A, Awasthi S, Friedman HM
Transl Res 2020 Jun;220:138-152. Epub 2020 Mar 16 doi: 10.1016/j.trsl.2020.03.004. PMID: 32272093Free PMC Article
Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group
Blood 2016 Jun 23;127(25):3154-64. Epub 2016 Apr 25 doi: 10.1182/blood-2015-11-679902. PMID: 27114460Free PMC Article

Recent systematic reviews

Prevalence and risk factors of tuberculosis among people living with HIV/AIDS in China: a systematic review and meta-analysis.
Qi CC, Xu LR, Zhao CJ, Zhang HY, Li QY, Liu MJ, Zhang YX, Tang Z, Ma XX
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Immunogenicity, effectiveness, and safety of SARS-CoV-2 vaccination in people with HIV.
Griffin DWJ, Pai Mangalore R, Hoy JF, McMahon JH
AIDS 2023 Jul 15;37(9):1345-1360. Epub 2023 Apr 13 doi: 10.1097/QAD.0000000000003579. PMID: 37070539Free PMC Article
COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla E, Green RF, Knuth M, Khoury MJ, Dotson WD, Gundlapalli A
Clin Immunol 2022 Oct;243:109097. Epub 2022 Aug 13 doi: 10.1016/j.clim.2022.109097. PMID: 35973637Free PMC Article
Herpes Zoster Risk in Immunocompromised Adults in the United States: A Systematic Review.
McKay SL, Guo A, Pergam SA, Dooling K
Clin Infect Dis 2020 Oct 23;71(7):e125-e134. doi: 10.1093/cid/ciz1090. PMID: 31677266Free PMC Article
Immunodeficiency-related vaccine-derived poliovirus (iVDPV) cases: a systematic review and implications for polio eradication.
Guo J, Bolivar-Wagers S, Srinivas N, Holubar M, Maldonado Y
Vaccine 2015 Mar 3;33(10):1235-42. Epub 2015 Jan 16 doi: 10.1016/j.vaccine.2015.01.018. PMID: 25600519Free PMC Article

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    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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