M Vautier1, S Georgin-Lavialle2, O Hermine3, B Bienvenu4, E Lacaze5, M Gerard5, A Aouba6. 1. Service de médecine interne, CHU de Caen, avenue de la Côte-de-Nacre, CS 30001, 14033 Caen cedex 09, France. Electronic address: matvautier@gmail.com. 2. Service de médecine interne, hôpital Tenon, 75020 Paris, France; Service d'hématologie adulte, hôpital Necker-Enfants malades, 75015 Paris, France. 3. Service d'hématologie adulte, hôpital Necker-Enfants malades, 75015 Paris, France. 4. Service de médecine interne, CHU de Caen, avenue de la Côte-de-Nacre, CS 30001, 14033 Caen cedex 09, France. 5. Service de génétique, CHU de Caen, 14000 Caen, France. 6. Service de médecine interne, CHU de Caen, avenue de la Côte-de-Nacre, CS 30001, 14033 Caen cedex 09, France; Service d'hématologie adulte, hôpital Necker-Enfants malades, 75015 Paris, France.
Abstract
INTRODUCTION: 22q11 deletion is a common genetic disorder which associates a polymalformative syndrome to dysimmune features. Autoimmunity and immune deficiency manifestations are often associated, resulting in a therapeutic challenge for this disease. CASE REPORT: We report a 28-year-old patient who presented with hemorrhagic manifestations leading to the diagnosis of severe thrombocytopenia (15,000/mm3), of both central and peripheral origin. Patient history, cardio-facial malformative syndrome, hypoparathyroidism and partial immune deficiency led to the molecular diagnosis of 22q11 deletion syndrome. After failure of polyvalent immunoglobulin infusions, rituximab alone allowed the increase of platelets to their usual level of 100-120,000/mm3 within 4 weeks and a complete clinical remission of the hemorrhagic syndrome, without any infectious complication after a 4-year follow-up. CONCLUSION: Rituximab may be an alternative to corticosteroid for the treatment of auto-immune manifestations associated with minor forms of 22q11 deletion syndrome without significant worsening of the immune deficiency.
INTRODUCTION: 22q11 deletion is a common genetic disorder which associates a polymalformative syndrome to dysimmune features. Autoimmunity and immune deficiency manifestations are often associated, resulting in a therapeutic challenge for this disease. CASE REPORT: We report a 28-year-old patient who presented with hemorrhagic manifestations leading to the diagnosis of severe thrombocytopenia (15,000/mm3), of both central and peripheral origin. Patient history, cardio-facial malformative syndrome, hypoparathyroidism and partial immune deficiency led to the molecular diagnosis of 22q11 deletion syndrome. After failure of polyvalent immunoglobulin infusions, rituximab alone allowed the increase of platelets to their usual level of 100-120,000/mm3 within 4 weeks and a complete clinical remission of the hemorrhagic syndrome, without any infectious complication after a 4-year follow-up. CONCLUSION:Rituximab may be an alternative to corticosteroid for the treatment of auto-immune manifestations associated with minor forms of 22q11 deletion syndrome without significant worsening of the immune deficiency.