B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ
نویسندگان
چکیده
منابع مشابه
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
Primary B-cell disorders comprise a heterogeneous group of inherited immunodeficiencies, often associated with autoimmunity causing significant morbidity. The underlying genetic etiology remains elusive in the majority of patients. In this study, we investigated a patient from a consanguineous family suffering from recurrent infections and severe lupuslike autoimmunity. Immunophenotyping reveal...
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1Unité Développement Normal et Pathologique du Système Immunitaire, INSERM U 429 and 2Laboratoire d’Anatomie Pathologique, Hôpital Necker–Enfants Malades, Paris, France. 3Service de Cytogénétique and 4Laboratoire d’Immunologie et d’Hématologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 5Unité d’Immunologie et d’Hématologie Pédiatrique and 6Centre d’Étude des Déficits Immunitair...
متن کاملAcute Anorectal Thrombophlebitis Caused by a Protein C Deficiency
A 46-year-old man visited the emergency department of our hospital with a 3-day history of anal pain, hemorrhaging, and a slight fever. He had previously been diagnosed with protein C deficiency and was prescribed dabigatran, a direct oral anticoagulant. Contrast-enhanced computed tomography showed severe rectal wall thickening with partial defect of enhancement. In addition, sigmoidoscopy reve...
متن کاملProtein kinase C δ deficiency enhances megakaryopoiesis and recovery from thrombocytopenia.
OBJECTIVE We previously determined that protein kinase C δ (PKCδ) regulates platelet function. However, the function of PKCδ in megakaryopoiesis is unknown. APPROACH AND RESULTS Using PKCδ(-/-) and wild-type littermate mice, we found that deficiency of PKCδ caused an increase in white blood cells and platelet counts, as well as in bone marrow and splenic megakaryocytes (P<0.05). Additionally,...
متن کاملManagement of neonatal purpura fulminans with severe protein C deficiency.
Neonatal purpura fulminans is a life threatening clinical entity characterized by extensive subcutaneous thrombosis and disseminated intravascular coagulation usually manifesting shortly after birth. We report an autosomal recessive form of the disease in a neonate who was diagnosed with compound heterozygosity for mutations in his protein C gene as the molecular basis of his disorder.
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ژورنال
عنوان ژورنال: Blood
سال: 2013
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2012-10-460741