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Immuno-osseous dysplasia

MedGen UID:
609410
Concept ID:
C0432218
Congenital Abnormality
Synonym: immuno-osseous dysplasia
SNOMED CT: Immuno-osseous dysplasia (254067002)
 
Monarch Initiative: MONDO:0015708
Orphanet: ORPHA169349

Professional guidelines

PubMed

Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R
Eur J Pediatr 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001. PMID: 10653321

Recent clinical studies

Etiology

Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium
PLoS One 2017;12(8):e0180926. Epub 2017 Aug 10 doi: 10.1371/journal.pone.0180926. PMID: 28796785Free PMC Article
Gendronneau M, Kérourédan O, Taque S, Sixou JL, Bonnaure-Mallet M
Eur Arch Paediatr Dent 2014 Jun;15(3):217-21. Epub 2013 Dec 11 doi: 10.1007/s40368-013-0099-3. PMID: 24327104Free PMC Article
Thomas SE, Hutchinson RJ, DebRoy M, Magee JC
Pediatr Transplant 2004 Oct;8(5):507-12. doi: 10.1111/j.1399-3046.2004.00208.x. PMID: 15367289
Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, da Fonseca N
J Med Genet 1999 Oct;36(10):786-9. doi: 10.1136/jmg.36.10.786. PMID: 10528861Free PMC Article
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

Diagnosis

Woo HA, Kim SH, Ahn YH, Min SI, Ha J, Ha IS, Cheong HI, Kang HG
Pediatr Transplant 2023 Dec;27(8):e14605. Epub 2023 Sep 11 doi: 10.1111/petr.14605. PMID: 37691539
Su T, Zhu Y, Wang X, Zhu Q, Duan X
Oral Dis 2023 Sep;29(6):2376-2393. Epub 2023 Apr 24 doi: 10.1111/odi.14589. PMID: 37094075
Ramdeny S, Chaudhary A, Worth A, Ghorashian S, Slatter M, Lum SH, Vora A
Blood Adv 2021 Apr 27;5(8):2153-2155. doi: 10.1182/bloodadvances.2021004284. PMID: 33881461Free PMC Article
Bertulli C, Marzollo A, Doria M, Di Cesare S, La Scola C, Mencarelli F, Pasini A, Affinita MC, Vidal E, Magini P, Dimartino P, Masetti R, Greco L, Palomba P, Conti F, Pession A
Int J Mol Sci 2020 Nov 15;21(22) doi: 10.3390/ijms21228604. PMID: 33203071Free PMC Article
Basiratnia M, Fallahzadeh MH
Saudi Med J 2007 Mar;28(3):457-60. PMID: 17334480

Therapy

Bertaina A, Grimm PC, Weinberg K, Parkman R, Kristovich KM, Barbarito G, Lippner E, Dhamdhere G, Ramachandran V, Spatz JM, Fathallah-Shaykh S, Atkinson TP, Al-Uzri A, Aubert G, van der Elst K, Green SG, Agarwal R, Slepicka PF, Shah AJ, Roncarolo MG, Gallo A, Concepcion W, Lewis DB
N Engl J Med 2022 Jun 16;386(24):2295-2302. doi: 10.1056/NEJMoa2117028. PMID: 35704481Free PMC Article
Bertulli C, Marzollo A, Doria M, Di Cesare S, La Scola C, Mencarelli F, Pasini A, Affinita MC, Vidal E, Magini P, Dimartino P, Masetti R, Greco L, Palomba P, Conti F, Pession A
Int J Mol Sci 2020 Nov 15;21(22) doi: 10.3390/ijms21228604. PMID: 33203071Free PMC Article
Baradaran-Heravi A, Raams A, Lubieniecka J, Cho KS, DeHaai KA, Basiratnia M, Mari PO, Xue Y, Rauth M, Olney AH, Shago M, Choi K, Weksberg RA, Nowaczyk MJ, Wang W, Jaspers NG, Boerkoel CF
Am J Med Genet A 2012 Sep;158A(9):2204-13. Epub 2012 Aug 7 doi: 10.1002/ajmg.a.35532. PMID: 22888040Free PMC Article
Basiratnia M, Fallahzadeh MH
Saudi Med J 2007 Mar;28(3):457-60. PMID: 17334480
Thomas SE, Hutchinson RJ, DebRoy M, Magee JC
Pediatr Transplant 2004 Oct;8(5):507-12. doi: 10.1111/j.1399-3046.2004.00208.x. PMID: 15367289

Prognosis

Woo HA, Kim SH, Ahn YH, Min SI, Ha J, Ha IS, Cheong HI, Kang HG
Pediatr Transplant 2023 Dec;27(8):e14605. Epub 2023 Sep 11 doi: 10.1111/petr.14605. PMID: 37691539
Yavuz S, Bayazıt AK, Anarat A, Gonlusen G, Alsancak P
Pediatr Int 2015 Apr;57(2):310-3. doi: 10.1111/ped.12455. PMID: 25868949
Gendronneau M, Kérourédan O, Taque S, Sixou JL, Bonnaure-Mallet M
Eur Arch Paediatr Dent 2014 Jun;15(3):217-21. Epub 2013 Dec 11 doi: 10.1007/s40368-013-0099-3. PMID: 24327104Free PMC Article
Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF
Am J Med Genet A 2013 Oct;161A(10):2609-13. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36111. PMID: 23950031Free PMC Article
Basiratnia M, Fallahzadeh MH
Saudi Med J 2007 Mar;28(3):457-60. PMID: 17334480

Clinical prediction guides

Bansal R, Hussain S, Chanana UB, Bisht D, Goel I, Muthuswami R
IUBMB Life 2020 Oct;72(10):2080-2096. Epub 2020 Aug 5 doi: 10.1002/iub.2354. PMID: 32754981
Prato G, De Grandis E, Mancardi MM, Cordani R, Giacomini T, Pisciotta L, Uccella S, Severino M, Tortora D, Pavanello M, Bertamino M, Verrina E, Caridi G, Di Rocco M, Nobili L
Brain Dev 2020 May;42(5):408-413. Epub 2020 Feb 27 doi: 10.1016/j.braindev.2020.01.008. PMID: 32115305
Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF
Am J Med Genet A 2013 Oct;161A(10):2609-13. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36111. PMID: 23950031Free PMC Article
Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF
J Neuropathol Exp Neurol 2008 Jun;67(6):565-77. doi: 10.1097/NEN.0b013e3181772777. PMID: 18520775
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

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