Other well-defined immunodeficiency syndromes [DS:H00107] Primary immunodeficiency disease [DS:H01725]
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.
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
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
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
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
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.