Iftikhar Aisha, Nazar Mobeen, Chaudry Adeela, Qaisar Ahmad
Aisha Iftikhar, FCPS, Department of Pediatrics, University of Child Health Sciences, Lahore, Pakistan.
Mobeen Nazar, FCPS, Department of Pediatrics, University of Child Health Sciences, Lahore, Pakistan.
Pak J Med Sci. 2025 Feb;41(2):569-574. doi: 10.12669/pjms.41.2.9511.
To determine the frequency and spectrum of different categories of Primary immunodeficiency disorders (PIDD).
This was a prospective, observational analytical study, conducted in the Pediatric Medicine Department, University of Child Health Sciences (UCHS) from January 2021 to January 2023.We recruited 81 patients, initially suspected based on Jeffrey Modell Foundation(JMF) warning signs, followed by detailed evaluation. Descriptive statistics were applied.
Male patients exceeded female (47: 31). Median age of presentation was 17 months. Median diagnostic delay was 10.5 months. Need of I/V antibiotics was the most frequent JMF warning sign (88.5%). Consanguinity, previous hospital admissions, family history and sibling death were present in 80%, 78%, 54%, 37% of cases respectively. The most conspicuous clinical feature was persistent or recurrent thrush (51%). Patients were categorized into six main groups: B-Cell defect (29.5%), SCID (24.4%), CID (14.1%), T-Cell defect (12.8 %), Phagocytic defect (11.5%) and NK deficiency (7.7%). Main bulk of patients 37 (47.4 %) were in age-group up to one year. Most common site of infection was recurrent pneumonia (76%) and the least was septic arthritis (5.1%).
PIDD should no longer be considered a rarity. B-Cell defect is the most common while earliest to diagnose are SCID and LAD. International health authorities should advocate EQUITABLE utilization of genetic testing across the globe.
确定不同类型原发性免疫缺陷疾病（PIDD）的发病率和谱系。
这是一项前瞻性观察分析研究，于2021年1月至2023年1月在儿童健康科学大学（UCHS）儿科学系进行。我们招募了81名患者，最初根据杰弗里·莫德尔基金会（JMF）的警示信号进行怀疑，随后进行详细评估。应用描述性统计。
男性患者超过女性（47:31）。就诊的中位年龄为17个月。中位诊断延迟为10.5个月。需要静脉注射抗生素是最常见的JMF警示信号（88.5%）。分别有80%、78%、54%、37%的病例存在近亲结婚、既往住院、家族史和兄弟姐妹死亡情况。最明显的临床特征是持续性或复发性鹅口疮（51%）。患者被分为六个主要组：B细胞缺陷（29.5%）、重症联合免疫缺陷（SCID，24.4%）、常见变异型免疫缺陷（CID，14.1%）、T细胞缺陷（12.8%）、吞噬细胞缺陷（11.5%）和自然杀伤细胞缺陷（7.7%）。大部分患者37名（47.4%）年龄在一岁及以下。最常见的感染部位是复发性肺炎（76%），最少见的是化脓性关节炎（5.1%）。
PIDD不应再被视为罕见病。B细胞缺陷最常见，而最早诊断的是SCID和白细胞黏附缺陷（LAD）。国际卫生当局应倡导在全球公平利用基因检测。
