지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아혈액종양학회 Clinical Pediatric Hematology-Oncology Clinical Pediatric Hematology-Oncology Vol.28 No.2
- 발행연도
- 2021.10
- 수록면
- 84 - 88 (5page)
- DOI
- 10.15264/cpho.2021.28.2.84
이용수
초록· 키워드
오류제보하기
X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency disorder. A 13-month-old boy was diagnosed with pure red cell aplasia (PRCA) and treated with steroid and cyclosporine. Bone marrow showed diminished erythroid precursors, and positive results for Parvovirus B19 and Cytomegalovirus (CMV) in-fection. A genetic study of Diamond-Blackfan anemia was negative. Five months lat-er, he was admitted due to fever and lymphadenopathy. PCR showed still positive for the Parvovirus, CMV, and Epstein-Barr virus (EBV). He was diagnosed with diffuse large B-cell lymphoma that was positive for EBV. The patient received chemotherapy with R-CHOP, and achieved complete remission. Immunoglobulin (Ig) levels were within an age-matched normal range until the completion of chemotherapy. Subse-quently, he was admitted nine times due to recurrent pneumonia and acute otitis me-dia between two and eight years old. We reanalyzed the Ig levels and lymphocyte subsets: IgG, IgA, and IgM were 30 mg/dL, below 1.0 mg/dL, and 36 mg/dL, res-pectively. Lymphocyte subsets showed nearly absent CD19 (+) cells, but T- and NK cell counts were within normal ranges. A genetic study showed a hemizygous in- frame deletion mutation in exon 4 of the IAP gene without the SH2D1A mutation, consistent with a XIAP deficiency. Therefore, he was diagnosed with XIAP deficiency. Genetic analysis of his mother, aunt and elder sister showed that they were carriers of the same gene mutation. He receives intravenous Ig regularly with follow-up, and still requires a low dose steroid to maintain hemoglobin level. We report XIAP defi-ciency as initial presentation of PRCA.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Latour S / 2015 / XIAP deficiency syndrome in humans / Semin Cell Dev Biol 39:115~123
Marsh RA / 2010 / XIAP deficiency : a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease / Blood 116:1079~1082
Filipovich AH / 2010 / X-linked lymphoproliferative syndromes : brothers or distant cousins / Blood 116:3398~3408
Pachlopnik Schmid J / 2011 / Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1(XLP-1/SAP deficiency)versus type-2(XLP-2/XIAP deficiency) / Blood 117:1522~1529
Aguilar C / 2015 / X-linked inhibitor of apoptosis protein deficiency : more than an X-linked lymphoproliferative syndrome / J Clin Immunol 35:331~338
Marsh RA / 2010 / XIAP deficiency : a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease / Blood 116:1079~1082
Filipovich AH / 2010 / X-linked lymphoproliferative syndromes : brothers or distant cousins / Blood 116:3398~3408
Pachlopnik Schmid J / 2011 / Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1(XLP-1/SAP deficiency)versus type-2(XLP-2/XIAP deficiency) / Blood 117:1522~1529
Aguilar C / 2015 / X-linked inhibitor of apoptosis protein deficiency : more than an X-linked lymphoproliferative syndrome / J Clin Immunol 35:331~338
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