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Familial hemophagocytic lymphohistiocytosis 3(FHL3)

MedGen UID:
332383
Concept ID:
C1837174
Disease or Syndrome
Synonym: FHL3
 
Gene (location): UNC13D (17q25.1)
 
Monarch Initiative: MONDO:0012146
OMIM®: 608898

Definition

Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (170280)-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see 267700. [from OMIM]

Clinical features

From HPO
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Hypofibrinogenemia
MedGen UID:
107511
Concept ID:
C0553681
Disease or Syndrome
Decreased concentration of fibrinogen in the blood.
Hemophagocytosis
MedGen UID:
163750
Concept ID:
C0876991
Disease or Syndrome
Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
Reduced natural killer cell activity
MedGen UID:
333452
Concept ID:
C1839969
Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Granulocytopenia
MedGen UID:
1640845
Concept ID:
C4551627
Disease or Syndrome
An abnormally reduced number of granulocytes in the blood.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.

Professional guidelines

PubMed

Zhang Q, Zhao YZ, Ma HH, Wang D, Cui L, Li WJ, Wei A, Wang CJ, Wang TY, Li ZG, Zhang R
Blood 2022 Jun 16;139(24):3493-3504. doi: 10.1182/blood.2021014860. PMID: 35344583
Bami S, Vagrecha A, Soberman D, Badawi M, Cannone D, Lipton JM, Cron RQ, Levy CF
Pediatr Blood Cancer 2020 Nov;67(11):e28581. Epub 2020 Jul 29 doi: 10.1002/pbc.28581. PMID: 32725881
Brudno JN, Kochenderfer JN
Blood Rev 2019 Mar;34:45-55. Epub 2018 Nov 14 doi: 10.1016/j.blre.2018.11.002. PMID: 30528964Free PMC Article

Recent clinical studies

Diagnosis

Nagaraj CB, Brightman DS, Rea H, Wakefield E, Harkavy NVG, Dyer L, Zhang W
BMC Pediatr 2024 Jan 11;24(1):34. doi: 10.1186/s12887-023-04510-3. PMID: 38212754Free PMC Article
Sadeghi P, Esslami GG, Rokni-Zadeh H, Changi-Ashtiani M, Mohsenipour R
BMC Pediatr 2022 Nov 19;22(1):667. doi: 10.1186/s12887-022-03746-9. PMID: 36401200Free PMC Article
Bahadir A, Kader Ş, Çebi AH, Erduran E, Mutlu M, Aslan Y
J Pediatr Hematol Oncol 2022 May 1;44(4):e866-e868. Epub 2022 Mar 16 doi: 10.1097/MPH.0000000000002449. PMID: 35293882
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

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