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STXBP2 Deficiency

MedGen UID:
925792
•Concept ID:
C4288260
•
Disease or Syndrome
Synonym: MUNC18-2 Deficiency

Definition

A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSTXBP2 Deficiency

Professional guidelines

PubMed

Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
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
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
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

Recent clinical studies

Etiology

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, Cogurlu MT, Akcan M, Cicek D, Cipe FE, Kiykim A, Yıldıran A, Unluhizarci K, Kilic SS, Aksu G, Ardeniz O, Kutukculer N
Immunol Res 2024 Aug;72(4):714-726. Epub 2024 Apr 22 doi: 10.1007/s12026-024-09477-6. PMID: 38644452Free PMC Article
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
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
Primary Immunodeficiencies Associated with EBV Disease.
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
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH
Blood 2014 Aug 21;124(8):1331-4. Epub 2014 Jun 10 doi: 10.1182/blood-2014-05-573105. PMID: 24916509Free PMC Article
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.
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: 21990010Free PMC Article

Diagnosis

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, Cogurlu MT, Akcan M, Cicek D, Cipe FE, Kiykim A, Yıldıran A, Unluhizarci K, Kilic SS, Aksu G, Ardeniz O, Kutukculer N
Immunol Res 2024 Aug;72(4):714-726. Epub 2024 Apr 22 doi: 10.1007/s12026-024-09477-6. PMID: 38644452Free PMC Article
Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
Sun M, Pylypenko O, Zhou Z, Xu M, Li Q, Houdusse A, van IJzendoorn SCD
Cell Mol Gastroenterol Hepatol 2024;17(6):983-1005. Epub 2024 Feb 1 doi: 10.1016/j.jcmgh.2024.01.015. PMID: 38307491Free PMC Article
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
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
Pediatric hemophagocytic lymphohistiocytosis.
Canna SW, Marsh RA
Blood 2020 Apr 16;135(16):1332-1343. doi: 10.1182/blood.2019000936. PMID: 32107531Free PMC Article
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.
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: 21990010Free PMC Article

Therapy

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
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
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH
Blood 2014 Aug 21;124(8):1331-4. Epub 2014 Jun 10 doi: 10.1182/blood-2014-05-573105. PMID: 24916509Free PMC Article

Prognosis

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
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
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
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
Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.
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
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
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
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M
J Med Genet 2010 Sep;47(9):595-600. doi: 10.1136/jmg.2009.075341. PMID: 20798128Free PMC Article

Clinical prediction guides

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
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
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
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
Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.
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
Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.
Mosa MH, Nicolle O, Maschalidi S, Sepulveda FE, Bidaud-Meynard A, Menche C, Michels BE, Michaux G, de Saint Basile G, Farin HF
Cell Mol Gastroenterol Hepatol 2018;6(4):477-493.e1. Epub 2018 Aug 14 doi: 10.1016/j.jcmgh.2018.08.001. PMID: 30364784Free PMC Article
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.
Lopez JA, Noori T, Minson A, Li Jovanoska L, Thia K, Hildebrand MS, Akhlaghi H, Darcy PK, Kershaw MH, Brown NJ, Grigg A, Trapani JA, Voskoboinik I
Front Immunol 2018;9:529. Epub 2018 Mar 15 doi: 10.3389/fimmu.2018.00529. PMID: 29599780Free PMC Article

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