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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

The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update.
Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T
Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B
J Allergy Clin Immunol 2018 Dec;142(6):1932-1946. Epub 2018 May 4 doi: 10.1016/j.jaci.2018.02.055. PMID: 29729943Free PMC Article

Recent clinical studies

Etiology

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients.
Chan M, Linn MMN, O'Hagan T, Guerra-Assunção JA, Lackenby A, Workman S, Dacre A, Burns SO, Breuer J, Hart J, Tadros S, Lowe DM
J Clin Immunol 2023 Aug;43(6):1083-1092. Epub 2023 May 6 doi: 10.1007/s10875-023-01504-9. PMID: 37148422Free PMC Article
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.
van Leeuwen LPM, GeurtsvanKessel CH, Ellerbroek PM, de Bree GJ, Potjewijd J, Rutgers A, Jolink H, van de Veerdonk F, van Gorp ECM, de Wilt F, Bogers S, Gommers L, Geers D, Bruns AHW, Leavis HL, van Haga JW, Lemkes BA, van der Veen A, de Kruijf-Bazen SFJ, van Paassen P, de Leeuw K, van de Ven AAJM, Verbeek-Menken PH, van Wengen A, Arend SM, Ruten-Budde AJ, van der Ent MW, van Hagen PM, Sanders RW, Grobben M, van der Straten K, Burger JA, Poniman M, Nierkens S, van Gils MJ, de Vries RD, Dalm VASH
J Allergy Clin Immunol 2022 Jun;149(6):1949-1957. Epub 2022 Apr 11 doi: 10.1016/j.jaci.2022.04.002. PMID: 35421449Free PMC Article
Hypogammaglobulinaemia.
Yong PF, Chee R, Grimbacher B
Immunol Allergy Clin North Am 2008 Nov;28(4):691-713, vii. doi: 10.1016/j.iac.2008.06.003. PMID: 18940570

Diagnosis

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, Aghamahdi F, Abolhassani H, Condliffe AM, Aghamohammadi A, Azizi G
Clin Rev Allergy Immunol 2020 Dec;59(3):323-333. doi: 10.1007/s12016-019-08738-9. PMID: 31111319
Depression among Youth Living with HIV/AIDS.
Benton TD, Kee Ng WY, Leung D, Canetti A, Karnik N
Child Adolesc Psychiatr Clin N Am 2019 Jul;28(3):447-459. Epub 2019 Apr 11 doi: 10.1016/j.chc.2019.02.014. PMID: 31076119
Hepatitis in AIDS patients.
Qadir MI
Rev Med Virol 2018 Jan;28(1) Epub 2017 Oct 13 doi: 10.1002/rmv.1956. PMID: 29027728

Therapy

Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients.
Chan M, Linn MMN, O'Hagan T, Guerra-Assunção JA, Lackenby A, Workman S, Dacre A, Burns SO, Breuer J, Hart J, Tadros S, Lowe DM
J Clin Immunol 2023 Aug;43(6):1083-1092. Epub 2023 May 6 doi: 10.1007/s10875-023-01504-9. PMID: 37148422Free PMC Article
Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.
van Leeuwen LPM, GeurtsvanKessel CH, Ellerbroek PM, de Bree GJ, Potjewijd J, Rutgers A, Jolink H, van de Veerdonk F, van Gorp ECM, de Wilt F, Bogers S, Gommers L, Geers D, Bruns AHW, Leavis HL, van Haga JW, Lemkes BA, van der Veen A, de Kruijf-Bazen SFJ, van Paassen P, de Leeuw K, van de Ven AAJM, Verbeek-Menken PH, van Wengen A, Arend SM, Ruten-Budde AJ, van der Ent MW, van Hagen PM, Sanders RW, Grobben M, van der Straten K, Burger JA, Poniman M, Nierkens S, van Gils MJ, de Vries RD, Dalm VASH
J Allergy Clin Immunol 2022 Jun;149(6):1949-1957. Epub 2022 Apr 11 doi: 10.1016/j.jaci.2022.04.002. PMID: 35421449Free PMC Article
Gene therapy for primary immunodeficiency.
Booth C, Romano R, Roncarolo MG, Thrasher AJ
Hum Mol Genet 2019 Oct 1;28(R1):R15-R23. doi: 10.1093/hmg/ddz170. PMID: 31297531
Which are the antibodies to watch in 2013?
Reichert JM
MAbs 2013 Jan-Feb;5(1):1-4. Epub 2012 Dec 19 doi: 10.4161/mabs.22976. PMID: 23254906Free PMC Article
Hypogammaglobulinaemia.
Yong PF, Chee R, Grimbacher B
Immunol Allergy Clin North Am 2008 Nov;28(4):691-713, vii. doi: 10.1016/j.iac.2008.06.003. PMID: 18940570

Prognosis

Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency.
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients.
Chan M, Linn MMN, O'Hagan T, Guerra-Assunção JA, Lackenby A, Workman S, Dacre A, Burns SO, Breuer J, Hart J, Tadros S, Lowe DM
J Clin Immunol 2023 Aug;43(6):1083-1092. Epub 2023 May 6 doi: 10.1007/s10875-023-01504-9. PMID: 37148422Free PMC Article
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Malignancies in HIV/AIDS: from epidemiology to therapeutic challenges.
Rubinstein PG, Aboulafia DM, Zloza A
AIDS 2014 Feb 20;28(4):453-65. doi: 10.1097/QAD.0000000000000071. PMID: 24401642Free PMC Article
Projections of global mortality and burden of disease from 2002 to 2030.
Mathers CD, Loncar D
PLoS Med 2006 Nov;3(11):e442. doi: 10.1371/journal.pmed.0030442. PMID: 17132052Free PMC Article

Clinical prediction guides

Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients.
Chan M, Linn MMN, O'Hagan T, Guerra-Assunção JA, Lackenby A, Workman S, Dacre A, Burns SO, Breuer J, Hart J, Tadros S, Lowe DM
J Clin Immunol 2023 Aug;43(6):1083-1092. Epub 2023 May 6 doi: 10.1007/s10875-023-01504-9. PMID: 37148422Free PMC Article
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I
N Engl J Med 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. PMID: 37133586Free PMC Article
Digital directly observed therapy to monitor adherence to medications: a scoping review.
Stoner MCD, Maragh-Bass AC, Sukhija-Cohen AC, Saberi P
HIV Res Clin Pract 2022 Jul 18;23(1):47-60. PMID: 35904111Free PMC Article
Prognostic factors for ARDS: clinical, physiological and atypical immunodeficiency.
Song M, Liu Y, Lu Z, Luo H, Peng H, Chen P
BMC Pulm Med 2020 Apr 23;20(1):102. doi: 10.1186/s12890-020-1131-0. PMID: 32326923Free PMC Article
New and old immunodeficiencies.
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

Recent systematic reviews

Global morbidity and mortality of central nervous system tuberculosis: a systematic review and meta-analysis.
Navarro-Flores A, Fernandez-Chinguel JE, Pacheco-Barrios N, Soriano-Moreno DR, Pacheco-Barrios K
J Neurol 2022 Jul;269(7):3482-3494. Epub 2022 Mar 15 doi: 10.1007/s00415-022-11052-8. PMID: 35288778Free PMC Article
Non-invasive diagnosis of Pneumocystis jirovecii pneumonia: a systematic review and meta-analysis.
Senécal J, Smyth E, Del Corpo O, Hsu JM, Amar-Zifkin A, Bergeron A, Cheng MP, Butler-Laporte G, McDonald EG, Lee TC
Clin Microbiol Infect 2022 Jan;28(1):23-30. Epub 2021 Aug 28 doi: 10.1016/j.cmi.2021.08.017. PMID: 34464734
Estimates of the global burden of cervical cancer associated with HIV.
Stelzle D, Tanaka LF, Lee KK, Ibrahim Khalil A, Baussano I, Shah ASV, McAllister DA, Gottlieb SL, Klug SJ, Winkler AS, Bray F, Baggaley R, Clifford GM, Broutet N, Dalal S
Lancet Glob Health 2021 Feb;9(2):e161-e169. Epub 2020 Nov 16 doi: 10.1016/S2214-109X(20)30459-9. PMID: 33212031Free PMC Article
Phlebotonics for venous insufficiency.
Martinez-Zapata MJ, Vernooij RW, Simancas-Racines D, Uriona Tuma SM, Stein AT, Moreno Carriles RMM, Vargas E, Bonfill Cosp X
Cochrane Database Syst Rev 2020 Nov 3;11(11):CD003229. doi: 10.1002/14651858.CD003229.pub4. PMID: 33141449Free PMC Article
Estimating per-act HIV transmission risk: a systematic review.
Patel P, Borkowf CB, Brooks JT, Lasry A, Lansky A, Mermin J
AIDS 2014 Jun 19;28(10):1509-19. doi: 10.1097/QAD.0000000000000298. PMID: 24809629Free PMC Article

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    • ClinVar
      Related medical variations
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      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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