U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
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

Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia.
Motoyama O, Inoue M, Hasegawa A, Sakai K, Kawamura T, Aikawa A, Iitaka K
Pediatr Int 2010 Jun;52(3):e128-30. doi: 10.1111/j.1442-200X.2010.03057.x. PMID: 20723108
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH
Pediatr Res 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74. PMID: 19127206
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
Lücke T, Kanzelmeyer N, Baradaran-Heravi A, Boerkoel CF, Burg M, Ehrich JH, Pape L
Pediatr Transplant 2009 Jun;13(4):482-9. Epub 2008 Sep 10 doi: 10.1111/j.1399-3046.2008.01013.x. PMID: 18785907
Schimke immuno-osseous dysplasia: case report and review of 25 patients.
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
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

Diagnosis

Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia.
Vladyka O, Zieg J, Pátek O, Bloomfield M, Paračková Z, Šedivá A, Klocperk A
J Clin Immunol 2024 Aug 17;44(8):180. doi: 10.1007/s10875-024-01787-6. PMID: 39153074Free PMC Article
Hereditary dentin defects with systemic diseases.
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
Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia.
Motoyama O, Inoue M, Hasegawa A, Sakai K, Kawamura T, Aikawa A, Iitaka K
Pediatr Int 2010 Jun;52(3):e128-30. doi: 10.1111/j.1442-200X.2010.03057.x. PMID: 20723108
Schimke immuno-osseous dysplasia.
Basiratnia M, Fallahzadeh MH
Saudi Med J 2007 Mar;28(3):457-60. PMID: 17334480
Cerebral complications in Schimke immuno-osseous dysplasia.
Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Müller-Berghaus J, Querfeld U
Eur J Pediatr 1997 Oct;156(10):789-91. doi: 10.1007/s004310050714. PMID: 9365070

Therapy

Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia.
Vladyka O, Zieg J, Pátek O, Bloomfield M, Paračková Z, Šedivá A, Klocperk A
J Clin Immunol 2024 Aug 17;44(8):180. doi: 10.1007/s10875-024-01787-6. PMID: 39153074Free PMC Article
Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia.
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
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
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
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH
Pediatr Res 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74. PMID: 19127206
Schimke immuno-osseous dysplasia.
Basiratnia M, Fallahzadeh MH
Saudi Med J 2007 Mar;28(3):457-60. PMID: 17334480

Prognosis

Inborn errors of immunity with kidney and urinary tract disorders: a review.
Shajari A, Zare Ahmadabadi A, Ashrafi MM, Mahdavi T, Mirzaee M, Mohkam M, Sharafian S, Tamiji M, Jamee M
Int Urol Nephrol 2024 Jun;56(6):1965-1972. Epub 2024 Jan 10 doi: 10.1007/s11255-023-03907-4. PMID: 38198013Free PMC Article
Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia.
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
Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia.
Motoyama O, Inoue M, Hasegawa A, Sakai K, Kawamura T, Aikawa A, Iitaka K
Pediatr Int 2010 Jun;52(3):e128-30. doi: 10.1111/j.1442-200X.2010.03057.x. PMID: 20723108
Schimke immuno-osseous dysplasia.
Basiratnia M, Fallahzadeh MH
Saudi Med J 2007 Mar;28(3):457-60. PMID: 17334480
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.
Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H
Am J Med Genet A 2004 Dec 1;131(2):194-9. doi: 10.1002/ajmg.a.30356. PMID: 15523612

Clinical prediction guides

Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
Milovanova A, Ananin P, Vashurina T, Zrobok O, Dmitrienko S, Ryaposova A, Tsygina E, Pushkov A, Zhanin I, Chudakova D, Asanov A, Shchagina O, Polyakov A, Fisenko A, Savostyanov K, Tsygin A
Int J Mol Sci 2025 Feb 18;26(4) doi: 10.3390/ijms26041744. PMID: 40004207Free PMC Article
SMARCAL1, the annealing helicase and the transcriptional co-regulator.
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
Annealing helicase HARP closes RPA-stabilized DNA bubbles non-processively.
Burnham DR, Nijholt B, De Vlaminck I, Quan J, Yusufzai T, Dekker C
Nucleic Acids Res 2017 May 5;45(8):4687-4695. doi: 10.1093/nar/gkx147. PMID: 28334870Free 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
Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.
Spranger J, Hinkel GK, Stöss H, Thoenes W, Wargowski D, Zepp F
J Pediatr 1991 Jul;119(1 Pt 1):64-72. doi: 10.1016/s0022-3476(05)81040-6. PMID: 2066860

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...