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7,807 results
  • Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report. [Journal Article]
    BMC Med Genet 2019; 20(1):157Li M, Chen W, … Chen W
  • CONCLUSIONS: This study reported the first written record of a Chinese XLA patient with metastatic CRC and severe hypocalcemia. Whole exome sequencing and bioinformatic analysis indicated the somatic mutations in ABCA6, C6 and PAX3 genes might contribute to the early-onset and metastasis CRC. Besides, a number of germline mutations in genes related to calcium metabolism (CACNA2D4, CD36, etc.) and the administration of irinotecan were speculated to be the causes of severe hypocalcemia. We therefore suggested that in order to avoid severe DRT, clinicians should take genetic background and therapeutic drug monitoring into consideration while planning chemotherapy treatment for XLA patients with CRC.
  • An update on X-Linked agammaglobulinaemia: clinical manifestations and management. [Journal Article]
    Curr Opin Allergy Clin Immunol 2019Shillitoe BMJ, Gennery AR
  • CONCLUSIONS: The potential limitations of current immunoglobulin therapy appear to be confirmed by recent cohort studies, and therefore further work in the development of gene therapy is warranted. Until this is available, clinicians should strive to reduce the diagnostic delay, regularly monitor for lung disease and individualize target immunoglobulin doses to reduce infection rates for their patients.
  • StatPearls: Transient Hypogammaglobulinemia of Infancy [BOOK]
    StatPearls Publishing: Treasure Island (FL) Justiz Vaillant Angel A. AA Wilson Allecia M. AM University of Michigan BOOK
  • Transient hypogammaglobulinemia of infancy (THI) is a primary immunodeficiency caused by a transitory drop of the levels of immunoglobulin G (IgG) in an infant beginning between 5 and 24 months of age.  Levels typically return to reference range at ages 2 to 6 years. IgG is produced at low levels by the fetus, and it is the only immunoglobulin to cross the placenta. At birth, an infant's IgG leve…
  • Kawasaki disease and immunodeficiencies in children: case reports and literature review. [Review]
    Rheumatol Int 2019; 39(10):1829-1838Rivas-Larrauri F, Aguilar-Zanela L, … Yamazaki-Nakashimada MA
  • Kawasaki disease (KD) has features that appear supporting an infectious cause with a secondary deranged inflammatory/autoimmune response. The association of KD in adults with human immunodeficiency virus infection and the presence of KD in patients with immunodeficiency disorders support the infectious theory. We present four KD patients associated with immunodeficiencies: one with X-linked agamm…
  • [Serum protein electrophoresis: study of 410 electrophoretic profiles]. [Case Reports]
    Pan Afr Med J 2019; 32:161Bouayadi O, Bensalah M, … Choukri M
  • Serum protein electrophoresis (SPE) is a routine analysis in the daily practice of a medical biology laboratory. This study aimed to analyze the different electrophoretic profiles seen in our current practice. We conducted a cross-sectional study of 410 serum samples collected during the routine analyses in the Laboratory of Biochemistry at the University Hospital Mohammed VI in Oujda. Serum prot…
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