From the Department of Pathology, Loyola University Medical Center, Maywood, Illinois.
Arch Pathol Lab Med. 2019 Apr;143(4):525-530. doi: 10.5858/arpa.2017-0372-RS. Epub 2018 Nov 16.
Primary immunodeficiency disorders typically have an onset in childhood. The suspicion for these conditions usually arises from a history of recurrent respiratory, gastrointestinal, or cutaneous infections with a history often dating back to infancy or early childhood. However, adults can also be affected. Common variable immunodeficiency, which usually has an onset/diagnosis in adulthood, is the most common symptomatic primary immunodeficiency. However, as its presentation could be manifold, its diagnosis is often delayed. The gastrointestinal tract is the second most affected system after the respiratory tract; symptoms associated with the gastrointestinal tract are often intractable. As patients with common variable immunodeficiency are often misdiagnosed, a high index of suspicion and clinical correlation is required for the appropriate diagnosis of this potentially debilitating condition.
原发性免疫缺陷病通常在儿童时期发病。这些疾病的怀疑通常源于反复发生的呼吸道、胃肠道或皮肤感染史,这些感染通常可以追溯到婴儿期或幼儿期。然而,成人也可能受到影响。常见的可变免疫缺陷病通常在成年后发病/诊断,是最常见的有症状原发性免疫缺陷病。然而,由于其表现可能多种多样,因此其诊断常常被延迟。胃肠道是仅次于呼吸道的第二大受影响系统;与胃肠道相关的症状往往难以治疗。由于常见的可变免疫缺陷病患者经常被误诊,因此需要高度怀疑和临床相关性,以便对这种潜在的使人衰弱的疾病进行适当诊断。