Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease

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  • TERANISHI Hideto
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University Department of Pediatrics, Kawasaki Medical School
  • ISHIMURA Masataka
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • KOGA Yuuki
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • EGUCHI Katsuhide
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • SONODA Motoshi
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • KOBAYASHI Tetsuko
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • SHIRAISHI Satoru
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • NAKASHIMA Kentaro
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
  • IKEGAMI Kouji
    Second Department of Internal Medicine Kyushu University Hospital
  • AMAN Murasaki
    Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University
  • YAMAMOTO Hidetaka
    Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University
  • TAKADA Hidetoshi
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University Department of Prenatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University
  • OHGA Shouichi
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University

Bibliographic Information

Other Title
  • 腸管T細胞性リンパ増殖症として発症した活性化PI3Kδ症候群
  • 症例報告 第6回日本血液学会九州地方会 会長推薦演題 腸管T細胞性リンパ増殖症として発症した活性化PI3Kδ症候群
  • ショウレイ ホウコク ダイ6カイ ニホン ケツエキ ガッカイ キュウシュウ チホウカイ カイチョウ スイセン エンダイ チョウカン Tサイボウセイ リンパ ゾウショクショウ ト シテ ハッショウ シタ カッセイカ PI3Kdショウコウグン

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Abstract

<p>A 13-year-old boy was admitted to our hospital because of persistent diarrhea, abdominal pain, and bloody stools. The patient had experienced repeated hospitalizations for the treatment of respiratory infections since early childhood. Colonoscopic and pathological studies led to a diagnosis of gut-associated T-cell lymphoproliferative disease (T-cell LPD). Laboratory data showed T-lymphocytopenia (492/µl), increased serum IgG levels (1,984 mg/dl), and low serum antibody titers for specific pathogens. Combined immunodeficiency accompanied by T-LPD suggested the diagnosis of activated PI3Kδ syndrome (APDS). Genetic analyses identified a heterozygous mutation of the PIK3CD gene (c.1573 G to A p.Glu525Lys). Although prednisolone and cyclosporine therapy has controlled the T-cell LPD, this patient awaits allogeneic hematopoietic cell transplantation to achieve a complete cure of his APDS.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 58 (1), 20-25, 2017

    The Japanese Society of Hematology

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