Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Blood

Volumn 126, Issue 16, 2015, Pages 1967-1969

  Rensing Ehl, Anne ^a   Pannicke, Ulrich ^b   Zimmermann, Stefanie Yvonne ^c   Lorenz, Myriam Ricarda ^b   Neven, Benedicte ^d,e   Fuchs, Ilka ^a   Salzer, Ulrich ^a   Speckmann, Carsten ^a   Strauss, Anne ^a   Maab, Eberhard ^f   Collet, Benedicte ^g   Enders, Anselm ^h   Favier, Remi ^i,j   Alessi, Marie Christine ^i,j   Rieux Laucat, Frederic ^d,e   Zieger, Barbara ^a   Schwarz, Klaus ^a,b,k   Ehl, Stephan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d INSERM   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f Olgaspital Stuttgart   (Germany)

^g CENTRE HOSPITALIER DE ROUBAIX   (France)

^h Australian National University   (Australia)

ⁱ ARMAND TROUSSEAU HOSPITAL   (France)

^j TIMONE HOSPITAL   (France)

^k German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

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Author keywords

[No Author keywords available]

Indexed keywords

ANTINUCLEAR ANTIBODY; CYANOCOBALAMIN; CYTOKINE; FAS LIGAND; IMMUNOGLOBULIN G; NBEAL2 PROTEIN; NEUTROPHIL CYTOPLASMIC ANTIBODY; PLXNB1 PROTEIN; PROTEIN; RRP9 PROTEIN; TISSUE PLASMINOGEN ACTIVATOR; UNCLASSIFIED DRUG; CELL SURFACE RECEPTOR; FAS ANTIGEN; FAS PROTEIN, HUMAN; FASLG PROTEIN, HUMAN; NBEAL2 PROTEIN, HUMAN; NERVE PROTEIN; PLASMA PROTEIN; PLXNB1 PROTEIN, HUMAN;

ADOLESCENT; APOPTOSIS; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; BLEEDING TENDENCY; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; EXOME; FEMALE; GENE SEQUENCE; GINGIVA BLEEDING; GRAY PLATELET SYNDROME; HOMOZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPLENOMEGALY; THROMBOCYTOPENIA; CASE REPORT; CLINICAL TRIAL; GENETICS; INFANT; METABOLISM; PATHOLOGY;

ANTIGENS, CD95; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; BLOOD PROTEINS; CHILD, PRESCHOOL; FAS LIGAND PROTEIN; FEMALE; GRAY PLATELET SYNDROME; HUMANS; INFANT; MALE; NERVE TISSUE PROTEINS; RECEPTORS, CELL SURFACE;

EID: 84944228764     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-06-654145     Document Type: Letter

References (10)

1. Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995; 81(6): 935-946.
2. Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995; 268(5215): 1347-1349.
3. Rensing-Ehl A, Janda A, Lorenz MR, et al. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica. 2013; 98(12): 1948-1955.
4. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet a-granules. Nat Genet. 2011; 43(8): 732-734.
5. Albers CA, Cvejic A, Favier R, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011; 43(8): 735-737.
6. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, et al. Gray platelet syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010; 116(23): 4990-5001.
7. Ermens AA, Vlasveld LT, Lindemans J. Significance of elevated cobalamin (vitamin B12) levels in blood. Clin Biochem. 2003; 36(8): 585-590.
8. Bowen RA, Dowdell KC, Dale JK, et al. Elevated vitamin B12 levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes. Clin Biochem. 2012; 45(6): 490-492.
9. Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, et al. FAS-L, IL-10, and double-negative CD4-CD8-TCR a/b1 T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood. 2009; 113(13): 3027-3030.
10. Caminha I, Fleisher TA, Hornung RL, et al. Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2010; 125(4): 946-949.e6.