Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

Haematologica

Volumn 98, Issue 3, 2013, Pages 389-392

  Lambotte, Olivier ^a,b   Neven, Bénédicte ^c,d   Galicier, Lionel ^d,e   Magerus Chatinet, Aude ^c   Schleinitz, Nicolas ^f,g   Hermine, Olivier ^c,d   Meyts, Isabelle ^h   Picard, Capucine ^c,d,i   Godeau, Bertrand ^j,k   Fischer, Alain ^c,d   Rieux Laucat, Frédéric ^c,d  

^a BICÊTRE HOSPITAL   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e SAINT LOUIS HOSPITAL   (France)

^f HÔPITAL DE LA CONCEPTION   (France)

^g AIX MARSEILLE UNIVERSITY   (France)

^h CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

ⁱ INSERM   (France)

^j HENRI MONDOR HOSPITAL   (France)

^k UNIVERSITÉ PARIS EST CRÉTEIL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FAS ANTIGEN; FAS LIGAND; IMMUNOSUPPRESSIVE AGENT; INTERLEUKIN 10;

ADULT; ALLELE; ANGIOFOLLICULAR LYMPH NODE HYPERPLASIA; APOPTOSIS; ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CYTOPENIA; DISEASE ASSOCIATION; FEMALE; HAPLOINSUFFICIENCY; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; LEUKOCYTE COUNT; LIVER BIOPSY; LYMPH NODE BIOPSY; LYMPHOCYTE PROLIFERATION; LYMPHOID HYPERPLASIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; SPLENECTOMY; SPLENOMEGALY; DEFICIENCY; GENETICS; GERMLINE MUTATION; MIDDLE AGED; MUTATION;

ADULT; ANTIGENS, CD95; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; FEMALE; GERM-LINE MUTATION; HAPLOINSUFFICIENCY; HUMANS; MALE; MIDDLE AGED; MUTATION;

EID: 84874529283     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.067488     Document Type: Article

References (11)

1. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010; 116(14):e35-e40.
2. Le Deist F, Emile JF, Rieux-Laucat F, Benkerrou M, Roberts I, Brousse N, Fischer A. Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet. 1996;348(9029):719-23.
3. Neven B, Magerus-Chatinet A, Florkin B, Gobert D, Lambotte O, De Somer L, et al. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood. 2011;118(18):4798-807.
4. Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M, Strober W. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest. 1992;90(2):334-41.
5. Kuehn HS, Caminha I, Niemela JE, Rao VK, Davis J, Fleisher TA, Oliveira JB. FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. J Immunol. 2011; 186 (10):6035-43.
6. Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, et al. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest. 2011;121(1):106-12.
7. Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, et al. FAS-L, IL-10, and double-negative CD4-CD8-TCR alpha/beta+ T cells are reliable markers of autoimmune lympho-proliferative syndrome (ALPS) associated with FAS loss of function. Blood. 2009;113(13):3027-30.
8. Caminha I, Fleisher TA, Hornung RL, Dale JK, Niemela JE, Price S, et al. Using bio-markers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2010;125(4):946-9.
9. Deutsch M, Tsopanou E, Dourakis SP. The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood. Clin Rheumatol. 2004;(1):43-4.
10. Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010; 115(25):5164-9.
11. Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, et al. Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunol. 2007;8:28.