Autoimmune Lymphoproliferative Syndrome
Last Posted: Jul 19, 2013
- Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.
Rensing-Ehl Anne, et al. Haematologica 2013 12 (12) 1948-55
- Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.
Aricò Maurizio, et al. PloS one 2013 0 (7) e68045
- The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function.
Boggio Elena, et al. Human immunology 2012 5 (5) 585-92
- A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.
Neven Bénédicte, et al. Blood 2011 11 (18) 4798-807
- The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population.
Chiocchetti A, et al. International journal of immunopathology and pharmacology 2010 4 (1) 1
- Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.
Dowdell Kennichi C, et al. Blood 2010 6 (25) 5164-9
- Variations of the perforin gene in patients with type 1 diabetes.
Orilieri Elisabetta, et al. Diabetes 2008 4 (4) 1078-83
- Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Clementi Rita, et al. Blood 2006 11 (9) 3079-84
- The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
Straus S E, et al. Blood 2001 7 (1) 194-200
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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