title: [Efficiency and good tolerance of rituximab for idiopathic thrombocytopenic purpura revealing a 22q11 deletion syndrome].
abstract: BACKGROUND
  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.
  
  
  METHODS
  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/mm3within 4 weeks and a complete clinical remission of the hemorrhagic syndrome, without any infectious complication after a 4-year follow-up.
  
  
  CONCLUSIONS
  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.
authors: 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.
authors: M
authors: M
authors: Vautier
authors: Service de médecine interne, hôpital Tenon, 75020 Paris, France; Service d'hématologie adulte, hôpital Necker-Enfants malades, 75015 Paris, France.
authors: S
authors: S
authors: Georgin-Lavialle
authors: Service d'hématologie adulte, hôpital Necker-Enfants malades, 75015 Paris, France.
authors: O
authors: O
authors: Hermine
authors: Service de médecine interne, CHU de Caen, avenue de la Côte-de-Nacre, CS 30001, 14033 Caen cedex 09, France.
authors: B
authors: B
authors: Bienvenu
authors: Service de génétique, CHU de Caen, 14000 Caen, France.
authors: E
authors: E
authors: Lacaze
authors: Service de génétique, CHU de Caen, 14000 Caen, France.
authors: M
authors: M
authors: Gerard
authors: 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.
authors: A
authors: A
authors: Aouba
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D000328:Adult; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D000069283:Rituximab / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: D000069283:Rituximab
keywords: 22q11 deletion; Auto-immunité; Autoimmunity; Déficit immunitaire; Délétion 22q11; Immune deficiency; Rituximab; Thrombocytopenia; Thrombocytopénie