KEGG   DISEASE: Lymphoproliferative syndrome
Entry
H01970                      Disease                                
Name
Lymphoproliferative syndrome
  Subgroup
X-linked lymphoproliferative syndrome [DS:H01969]
  Supergrp
Other well-defined immunodeficiency syndromes [DS:H00107]
Primary immunodeficiency disease [DS:H01725]
Description
Lymphoproliferative syndrome (LPFS) is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common immunological features are a progressive hypogammaglobulinemia and a progressive loss of CD4+ T cells with a declining proportion of naive T cells.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01970  Lymphoproliferative syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01970  Lymphoproliferative syndrome
Related
pathway
hsa04660  T cell receptor signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
Gene
(LPFS1) ITK [HSA:3702] [KO:K07363]
(LPFS2) CD27 [HSA:939] [KO:K05144]
(LPFS3) CD70 [HSA:970] [KO:K05470]
Pathogen
Human herpesvirus 4 (Epstein-Barr virus)
Other DBs
ICD-11: 4A01.22
ICD-10: D82.3
MeSH: C567815
OMIM: 613011 615122 618261
Reference
  Authors
Stepensky P, Weintraub M, Yanir A, Revel-Vilk S, Krux F, Huck K, Linka RM, Shaag A, Elpeleg O, Borkhardt A, Resnick IB
  Title
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.
  Journal
Haematologica 96:472-6 (2011)
DOI:10.3324/haematol.2010.033910
Reference
PMID:19425169 (LPFS1)
  Authors
Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, Telieps T, Knapp S, Wacker HH, Meindl A, Jumaa H, Borkhardt A
  Title
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
  Journal
J Clin Invest 119:1350-8 (2009)
DOI:10.1172/JCI37901
Reference
PMID:22289921 (LPFS1)
  Authors
Linka RM, Risse SL, Bienemann K, Werner M, Linka Y, Krux F, Synaeve C, Deenen R, Ginzel S, Dvorsky R, Gombert M, Halenius A, Hartig R, Helminen M, Fischer A, Stepensky P, Vettenranta K, Kohrer K, Ahmadian MR, Laws HJ, Fleckenstein B, Jumaa H, Latour S, Schraven B, Borkhardt A
  Title
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
  Journal
Leukemia 26:963-71 (2012)
DOI:10.1038/leu.2011.371
Reference
PMID:22801960 (LPFS2)
  Authors
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Forster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG
  Title
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
  Journal
Haematologica 98:473-8 (2013)
DOI:10.3324/haematol.2012.068791
Reference
PMID:28011864 (LPFS3)
  Authors
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarstrom L, Tangye SG, Su HC, Pan-Hammarstrom Q
  Title
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
  Journal
J Exp Med 214:91-106 (2017)
DOI:10.1084/jem.20160849
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