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Familial hemophagocytic lymphohistiocytosis

MedGen UID:
830907
Concept ID:
CN205265
Disease or Syndrome
Synonyms: Familial HLH
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Orphanet: ORPHA540

Definition

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial hemophagocytic lymphohistiocytosis
Follow this link to review classifications for Familial hemophagocytic lymphohistiocytosis in Orphanet.

Recent clinical studies

Etiology

Ozdemir A, Gunes T, Chiang SCC, Unal E
J Pediatr Hematol Oncol 2017 Aug;39(6):e309-e311. doi: 10.1097/MPH.0000000000000777. PMID: 28328614
Bock AM, LeVeque M, Camitta B, Talano JA
Pediatr Blood Cancer 2016 Dec;63(12):2154-2158. Epub 2016 Aug 27 doi: 10.1002/pbc.26175. PMID: 27565627
Sultanova AK, Kim SK, Lee JW, Jang PS, Chung NG, Cho B, Park J, Kim Y, Kim M
Ann Lab Med 2016 Mar;36(2):170-3. doi: 10.3343/alm.2016.36.2.170. PMID: 26709266Free PMC Article
Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch MT, Filipovich AH, Zhang K
Pediatr Blood Cancer 2014 Jun;61(6):1034-40. Epub 2014 Jan 28 doi: 10.1002/pbc.24955. PMID: 24470399
Mahlaoui N, Ouachée-Chardin M, de Saint Basile G, Neven B, Picard C, Blanche S, Fischer A
Pediatrics 2007 Sep;120(3):e622-8. Epub 2007 Aug 14 doi: 10.1542/peds.2006-3164. PMID: 17698967

Diagnosis

Liu C, Li M, Wu X, Yao X, Zhao L
Medicine (Baltimore) 2018 Jul;97(30):e11577. doi: 10.1097/MD.0000000000011577. PMID: 30045285Free PMC Article
Tang Y, Tan H, Hu S
Clin Nucl Med 2018 Apr;43(4):296-298. doi: 10.1097/RLU.0000000000002008. PMID: 29465491
Hori M, Yasumi T, Shimodera S, Shibata H, Hiejima E, Oda H, Izawa K, Kawai T, Ishimura M, Nakano N, Shirakawa R, Nishikomori R, Takada H, Morita S, Horiuchi H, Ohara O, Ishii E, Heike T
J Clin Immunol 2017 Jan;37(1):92-99. Epub 2016 Nov 28 doi: 10.1007/s10875-016-0357-3. PMID: 27896523
Erker C, Harker-Murray P, Talano JA
Pediatr Clin North Am 2017 Feb;64(1):91-109. doi: 10.1016/j.pcl.2016.08.006. PMID: 27894453
Degar B
Hematol Oncol Clin North Am 2015 Oct;29(5):903-13. Epub 2015 Aug 25 doi: 10.1016/j.hoc.2015.06.008. PMID: 26461150

Therapy

Bock AM, LeVeque M, Camitta B, Talano JA
Pediatr Blood Cancer 2016 Dec;63(12):2154-2158. Epub 2016 Aug 27 doi: 10.1002/pbc.26175. PMID: 27565627
Kostova EB, Beuger BM, Veldthuis M, van der Werff Ten Bosch J, Kühnle I, van den Akker E, van den Berg TK, van Zwieten R, van Bruggen R
Exp Hematol 2015 Dec;43(12):1072-1076.e2. Epub 2015 Aug 28 doi: 10.1016/j.exphem.2015.08.007. PMID: 26320718
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
van Egmond ME, Vermeulen RJ, Peeters-Scholte CM, Augoustides-Savvopoulou P, Abbink F, Boelens JJ, van der Knaap MS
Neuropediatrics 2011 Oct;42(5):191-3. Epub 2011 Sep 29 doi: 10.1055/s-0031-1287788. PMID: 21959744
Mahlaoui N, Ouachée-Chardin M, de Saint Basile G, Neven B, Picard C, Blanche S, Fischer A
Pediatrics 2007 Sep;120(3):e622-8. Epub 2007 Aug 14 doi: 10.1542/peds.2006-3164. PMID: 17698967

Prognosis

Seo JY, Lee KO, Yoo KH, Sung KW, Koo HH, Kim SH, Kang HJ, Park KD, Shin HY, Baek HJ, Kook H, Lyu CJ, Song JS, Lee MJ, Kim JY, Lim YT, Koh KN, Im HJ, Seo JJ, Kim HJ; Korea Histiocytosis Working Party.
Clin Genet 2016 Feb;89(2):222-7. Epub 2015 Nov 20 doi: 10.1111/cge.12682. PMID: 26451869
Degar B
Hematol Oncol Clin North Am 2015 Oct;29(5):903-13. Epub 2015 Aug 25 doi: 10.1016/j.hoc.2015.06.008. PMID: 26461150
Esmaeilzadeh H, Bemanian MH, Nabavi M, Arshi S, Fallahpour M, Fuchs I, zur Stadt U, Warnatz K, Ammann S, Ehl S, Lehmberg K, Rezaei N
J Clin Immunol 2015 Jan;35(1):22-5. Epub 2014 Dec 10 doi: 10.1007/s10875-014-0119-z. PMID: 25491289
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
Yoon HS, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Lee ST, Chung HS, Kim SH, Park CJ, Chi HS, Im HJ, Seo JJ
Haematologica 2010 Apr;95(4):622-6. Epub 2009 Dec 16 doi: 10.3324/haematol.2009.016949. PMID: 20015888Free PMC Article

Clinical prediction guides

Ciraci S, Ozcan A, Ozdemir MM, Chiang SCC, Tesi B, Ozdemir AM, Karakukcu M, Patiroglu T, Acipayam C, Doganay S, Gumus H, Unal E
J Pediatr Hematol Oncol 2017 Aug;39(6):e321-e324. doi: 10.1097/MPH.0000000000000886. PMID: 28692549
Seo JY, Lee KO, Yoo KH, Sung KW, Koo HH, Kim SH, Kang HJ, Park KD, Shin HY, Baek HJ, Kook H, Lyu CJ, Song JS, Lee MJ, Kim JY, Lim YT, Koh KN, Im HJ, Seo JJ, Kim HJ; Korea Histiocytosis Working Party.
Clin Genet 2016 Feb;89(2):222-7. Epub 2015 Nov 20 doi: 10.1111/cge.12682. PMID: 26451869
Mhatre S, Madkaikar M, Jijina F, Ghosh K
J Pediatr Hematol Oncol 2014 Nov;36(8):e524-7. doi: 10.1097/MPH.0000000000000102. PMID: 24390453
Balta G, Topcuoglu S, Gursoy T, Gurgey A, Ovali F
J Pediatr Hematol Oncol 2013 Nov;35(8):e332-4. doi: 10.1097/MPH.0b013e31827078c6. PMID: 23073042
Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, Pende D, Griffiths GM, Aricò M
Haematologica 2008 Jul;93(7):1086-90. Epub 2008 May 19 doi: 10.3324/haematol.12622. PMID: 18492689

Recent systematic reviews

Azizi G, Pouyani MR, Abolhassani H, Sharifi L, Dizaji MZ, Mohammadi J, Mirshafiey A, Aghamohammadi A
Cell Immunol 2016 Dec;310:14-26. Epub 2016 Aug 27 doi: 10.1016/j.cellimm.2016.08.012. PMID: 27614846

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