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 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
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.
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.
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.
