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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.
Recurrent mycobacterial infections
MedGen UID:
869021
Concept ID:
C4023438
Finding
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.

Term Hierarchy

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

Professional guidelines

PubMed

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
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
Patel R, Kennedy OJ, Clarke E, Geretti A, Nilsen A, Lautenschlager S, Green J, Donders G, van der Meijden W, Gomberg M, Moi H, Foley E
Int J STD AIDS 2017 Dec;28(14):1366-1379. Epub 2017 Aug 24 doi: 10.1177/0956462417727194. PMID: 28836892

Recent clinical studies

Etiology

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
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
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
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
Freeman AF, Holland SM
Immunol Allergy Clin North Am 2008 May;28(2):277-91, viii. doi: 10.1016/j.iac.2008.01.005. PMID: 18424333Free PMC Article

Diagnosis

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
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
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
Qadir MI
Rev Med Virol 2018 Jan;28(1) Epub 2017 Oct 13 doi: 10.1002/rmv.1956. PMID: 29027728
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

Therapy

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
Capetti A, Rizzardini G
Expert Opin Pharmacother 2019 Apr;20(6):667-678. Epub 2019 Jan 24 doi: 10.1080/14656566.2019.1570131. PMID: 30676115
Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320
Berger M
Immunol Allergy Clin North Am 2008 Nov;28(4):779-802, viii. doi: 10.1016/j.iac.2008.07.002. PMID: 18940574
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

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
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
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
Sun X, Nishiura H, Xiao Y
Theor Biol Med Model 2020 Jan 22;17(1):1. doi: 10.1186/s12976-019-0118-0. PMID: 31964392Free PMC Article
Mathers CD, Loncar D
PLoS Med 2006 Nov;3(11):e442. doi: 10.1371/journal.pmed.0030442. PMID: 17132052Free PMC Article

Clinical prediction guides

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
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
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
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M
J Clin Immunol 2015 Nov;35(8):745-53. Epub 2015 Oct 13 doi: 10.1007/s10875-015-0206-9. PMID: 26464197
Squires RH Jr
Semin Liver Dis 2008 May;28(2):153-66. doi: 10.1055/s-2008-1073115. PMID: 18452115

Recent systematic reviews

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
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
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
Degenhardt L, Peacock A, Colledge S, Leung J, Grebely J, Vickerman P, Stone J, Cunningham EB, Trickey A, Dumchev K, Lynskey M, Griffiths P, Mattick RP, Hickman M, Larney S
Lancet Glob Health 2017 Dec;5(12):e1192-e1207. Epub 2017 Oct 23 doi: 10.1016/S2214-109X(17)30375-3. PMID: 29074409Free PMC Article
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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