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UNC13D Deficiency

MedGen UID:
925612
Concept ID:
C4288080
Disease or Syndrome
Synonym: MUNC13-4 Deficiency

Definition

A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUNC13D Deficiency

Professional guidelines

PubMed

Zhang J, Sun Y, Shi X, Zhang R, Wang Y, Xiao J, Cao J, Gao Z, Wang J, Wu L, Wei W, Wang Z
Orphanet J Rare Dis 2020 May 6;15(1):112. doi: 10.1186/s13023-020-01390-z. PMID: 32375849Free PMC Article
Rubin TS, Zhang K, Gifford C, Lane A, Choo S, Bleesing JJ, Marsh RA
Blood 2017 Jun 1;129(22):2993-2999. Epub 2017 Mar 7 doi: 10.1182/blood-2016-12-753830. PMID: 28270454Free PMC Article
Borte S, Meeths M, Liebscher I, Krist K, Nordenskjöld M, Hammarström L, von Döbeln U, Henter JI, Bryceson YT
J Allergy Clin Immunol 2014 Jul;134(1):226-8. Epub 2014 May 29 doi: 10.1016/j.jaci.2014.04.026. PMID: 24882743

Recent clinical studies

Etiology

Amirifar P, Ranjouri MR, Abolhassani H, Moeini Shad T, Almasi-Hashiani A, Azizi G, Moamer S, Aghamohammadi A, Yazdani R
Pediatr Allergy Immunol 2021 Jan;32(1):186-197. Epub 2020 Aug 24 doi: 10.1111/pai.13323. PMID: 32679608
Zhang J, Sun Y, Shi X, Zhang R, Wang Y, Xiao J, Cao J, Gao Z, Wang J, Wu L, Wei W, Wang Z
Orphanet J Rare Dis 2020 May 6;15(1):112. doi: 10.1186/s13023-020-01390-z. PMID: 32375849Free PMC Article
Rubin TS, Zhang K, Gifford C, Lane A, Choo S, Bleesing JJ, Marsh RA
Blood 2017 Jun 1;129(22):2993-2999. Epub 2017 Mar 7 doi: 10.1182/blood-2016-12-753830. PMID: 28270454Free PMC Article
Cohen JI
Curr Top Microbiol Immunol 2015;390(Pt 1):241-65. doi: 10.1007/978-3-319-22822-8_10. PMID: 26424649Free PMC Article
Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M
Cell Mol Life Sci 2012 Jan;69(1):29-40. Epub 2011 Oct 12 doi: 10.1007/s00018-011-0835-y. PMID: 21990010

Diagnosis

Amirifar P, Ranjouri MR, Abolhassani H, Moeini Shad T, Almasi-Hashiani A, Azizi G, Moamer S, Aghamohammadi A, Yazdani R
Pediatr Allergy Immunol 2021 Jan;32(1):186-197. Epub 2020 Aug 24 doi: 10.1111/pai.13323. PMID: 32679608
Canna SW, Marsh RA
Blood 2020 Apr 16;135(16):1332-1343. doi: 10.1182/blood.2019000936. PMID: 32107531Free PMC Article
Vahidi M, Badalzadeh M, Jannesar M, Mazinani M, Fazlollahi MR, Khodayari Namini N, Houshmand M, Hamidieh AA, Moradi L, Pourpak Z, Moin M
Iran J Allergy Asthma Immunol 2019 Oct 23;18(5):487-492. doi: 10.18502/ijaai.v18i5.1911. PMID: 32245292
Mo W, Wei W, Sun Y, Yang Y, Guan Z, Li M, Zhu P, Chi Z
Exp Hematol 2019 Oct;78:62-69. Epub 2019 Sep 25 doi: 10.1016/j.exphem.2019.09.024. PMID: 31562900
Zhang J, He J, Johnson JL, Napolitano G, Ramadass M, Rahman F, Catz SD
Autophagy 2019 Oct;15(10):1738-1756. Epub 2019 Apr 5 doi: 10.1080/15548627.2019.1596475. PMID: 30892133Free PMC Article

Therapy

Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E
J Clin Immunol 2020 Aug;40(6):901-916. Epub 2020 Jul 7 doi: 10.1007/s10875-020-00814-6. PMID: 32638196
Mo W, Wei W, Sun Y, Yang Y, Guan Z, Li M, Zhu P, Chi Z
Exp Hematol 2019 Oct;78:62-69. Epub 2019 Sep 25 doi: 10.1016/j.exphem.2019.09.024. PMID: 31562900
Yazdani R, Amirifar P, Abolhassani H, Azizi G, Parvaneh N, Rezaei N, Aghamohammadi A
J Investig Allergol Clin Immunol 2019 Apr;29(2):160-162. doi: 10.18176/jiaci.0362. PMID: 31017122
Park M, Yun YJ, Woo SI, Lee JW, Chung NG, Cho B
Pediatr Int 2015 Apr;57(2):e77-80. Epub 2015 Feb 24 doi: 10.1111/ped.12567. PMID: 25712613

Prognosis

Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E
J Clin Immunol 2020 Aug;40(6):901-916. Epub 2020 Jul 7 doi: 10.1007/s10875-020-00814-6. PMID: 32638196
Zhang J, Sun Y, Shi X, Zhang R, Wang Y, Xiao J, Cao J, Gao Z, Wang J, Wu L, Wei W, Wang Z
Orphanet J Rare Dis 2020 May 6;15(1):112. doi: 10.1186/s13023-020-01390-z. PMID: 32375849Free PMC Article
Vahidi M, Badalzadeh M, Jannesar M, Mazinani M, Fazlollahi MR, Khodayari Namini N, Houshmand M, Hamidieh AA, Moradi L, Pourpak Z, Moin M
Iran J Allergy Asthma Immunol 2019 Oct 23;18(5):487-492. doi: 10.18502/ijaai.v18i5.1911. PMID: 32245292
Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S
Haematologica 2010 Dec;95(12):2080-7. Epub 2010 Sep 7 doi: 10.3324/haematol.2010.029389. PMID: 20823128Free PMC Article
Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S
Pediatr Blood Cancer 2006 Apr;46(4):482-8. doi: 10.1002/pbc.20511. PMID: 16365863

Clinical prediction guides

Gadoury-Levesque V, Dong L, Su R, Chen J, Zhang K, Risma KA, Marsh RA, Sun M
Blood Adv 2020 Jun 23;4(12):2578-2594. doi: 10.1182/bloodadvances.2020001605. PMID: 32542393Free PMC Article
Zhang J, Sun Y, Shi X, Zhang R, Wang Y, Xiao J, Cao J, Gao Z, Wang J, Wu L, Wei W, Wang Z
Orphanet J Rare Dis 2020 May 6;15(1):112. doi: 10.1186/s13023-020-01390-z. PMID: 32375849Free PMC Article
Vahidi M, Badalzadeh M, Jannesar M, Mazinani M, Fazlollahi MR, Khodayari Namini N, Houshmand M, Hamidieh AA, Moradi L, Pourpak Z, Moin M
Iran J Allergy Asthma Immunol 2019 Oct 23;18(5):487-492. doi: 10.18502/ijaai.v18i5.1911. PMID: 32245292
Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K
Pediatr Blood Cancer 2010 Jul 15;55(1):134-40. doi: 10.1002/pbc.22499. PMID: 20486178
Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG
Blood 2007 Sep 15;110(6):1906-15. Epub 2007 May 24 doi: 10.1182/blood-2007-02-074468. PMID: 17525286Free PMC Article

Recent systematic reviews

Amirifar P, Ranjouri MR, Abolhassani H, Moeini Shad T, Almasi-Hashiani A, Azizi G, Moamer S, Aghamohammadi A, Yazdani R
Pediatr Allergy Immunol 2021 Jan;32(1):186-197. Epub 2020 Aug 24 doi: 10.1111/pai.13323. PMID: 32679608

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