Division of Allergy and Clinical Immunology, Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, QC, Canada.
Eur J Haematol. 2013 Sep;91(3):262-264. doi: 10.1111/ejh.12148. Epub 2013 Jun 28.
This case report describes a 14-year-old boy who presented to the emergency department with symptoms of severe anemia. He was diagnosed with autoimmune hemolytic anemia, and on further investigation, it was noted that he had no functioning T cells. Despite no antecedent history of severe infection, he was worked up for a severe combined immunodeficiency, and was found to have a compound hypomorphic mutation in an enzyme responsible for recombination of the B- and T-cell receptors. He was subsequently diagnosed with severe combined immunodeficiency, presenting with autoimmunity, and received a bone marrow transplant. As our knowledge of the immune system continues to expand, we are learning that dysregulation can occur in any one of the complex immune pathways, and may have a variety of clinical presentations. A high index of suspicion for immune defects should be maintained in cases of atypical or severe infections, autoimmunity or malignancy, particularly by the general practitioner, who is often the first to encounter these challenging patients.
本病例报告描述了一名 14 岁男孩，因严重贫血症状到急诊科就诊。他被诊断为自身免疫性溶血性贫血，进一步检查发现他没有功能正常的 T 细胞。尽管没有严重感染的既往史，但他仍被怀疑患有严重联合免疫缺陷，并发现其负责 B 细胞和 T 细胞受体重组的一种酶存在复合功能低下突变。他随后被诊断为严重联合免疫缺陷，表现为自身免疫，并接受了骨髓移植。随着我们对免疫系统的认识不断扩展，我们了解到在任何一个复杂的免疫途径中都可能发生失调，并且可能有多种临床表现。对于非典型或严重感染、自身免疫或恶性肿瘤，特别是全科医生（通常是第一个遇到这些具有挑战性的患者的医生），应保持对免疫缺陷的高度怀疑。
