A Case of Mohr-Tranebjærg Syndrome Diagnosed in a Patient with X-Linked Agammaglobulinemia
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منابع مشابه
Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here...
متن کامل[Dermatomyositis-like syndrome in x-linked agammaglobulinemia].
Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a...
متن کاملX-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report
Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known. Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK) gene mutation was pre...
متن کاملSafe Subcutaneous Immunoglobulin Replacement Therapy in the Treatment of X-Linked Agammaglobulinemia Patient: A Case Report
X-linked agammaglobulinemia (XLA) or Bruton’s disease is a rare inherited disorder of the immune system: XLA is a primary immunodeficiency, occurring in 1 of 190,000 male births in the United States [1,2]. XLA represents nearly 85% of agammaglobulinemia cases, and is caused by a defect in gene, located on the X chromosome, coding for Bruton’s tyrosine kinase (BTK). BTK gene mutation causes a fa...
متن کاملX-linked agammaglobulinemia diagnosed late in life: case report and review of the literature
BACKGROUND Common variable immune deficiency (CVID), one of the most common primary immunodeficiency diseases presents in adults, whereas X-linked agammaglobulinemia (XLA), an inherited humoral immunodeficiency, is usually diagnosed early in life after maternal Igs have waned. However, there have been several reports in the world literature in which individuals have either had a delay in onset ...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2016
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2015.12.507