Abstract：
Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is crucial, especially in tribal societies with consanguineous unions. Ten families with confirmed inborn errors of immunity were studied, revealing diverse pregnancy decisions: An architect with autosomal dominant STAT-1 gain of function underwent prenatal diagnosis despite initial plans for preimplantation genetic diagnosis. In a consanguineous family, two children died from leukocyte adhesion deficiency type 1 because the father refused prenatal diagnosis. First cousins opted against terminating the second pregnancy, resulting in two children affected by Bruton disease. Another consanguineous couple, with two children afflicted by ataxia-telangiectasia, chose oocyte donation for their third child, ensuring a healthy birth. Recurrent pregnancy loss was observed in a mother subsequently diagnosed with ZAP70 deficiency. A mother with Wiskott-Aldrich syndrome child opted for in vitro fertilization, leading to a healthy birth post-prenatal diagnosis. A misdiagnosis of anaplastic anemia occurred in a family with multiple instances of Wiskott-Aldrich syndrome. A leukocyte adhesion deficiency type 1 case led to parental dissolution due to the father\'s refusal to acknowledge the condition. In a non-consanguineous couple, the father\'s diagnosis of TACI deficiency influenced the mother\'s decision to discontinue pregnancy post-prenatal diagnosis. Genetic diagnosis alone cannot optimize prenatal care for immune dysregulation disorders. Various factors, including patient education, societal norms, ethics, and economics, impact pregnancy decisions. Clinical immunologists must integrate these elements into guidance strategies to enhance patient outcomes.
摘要：
天生免疫错误的人在生育方面面临挑战，怀孕,和遗传性疾病传播。产前遗传咨询至关重要,尤其是在有血缘关系的部落社会。研究了10个确认了先天免疫错误的家庭，揭示了不同的妊娠决定:一位具有常染色体显性遗传STAT-1功能获得的建筑师接受了产前诊断，尽管最初计划进行植入前遗传学诊断。在一个近亲家庭里,两名儿童死于1型白细胞粘附缺乏症，因为父亲拒绝产前诊断。表亲选择终止第二次怀孕，导致两个孩子受到布鲁顿病的影响。另一对近亲,有两个孩子患有共济失调毛细血管扩张症，为他们的第三个孩子选择了卵母细胞捐赠，确保健康出生。在随后被诊断患有ZAP70缺乏症的母亲中观察到复发性妊娠损失。一位患有Wiskott-Aldrich综合征的母亲选择了体外受精，导致产前诊断后健康出生。在多个Wiskott-Aldrich综合征的家庭中发生了再生障碍性贫血的误诊。1型白细胞粘附缺乏症导致父母因父亲拒绝承认病情而解散。在一对非近亲的夫妇中，父亲对TACI缺乏症的诊断影响了母亲在产前诊断后中止妊娠的决定。仅靠基因诊断不能优化免疫失调性疾病的产前护理。各种因素,包括患者教育，社会规范，伦理,和经济学,影响怀孕决定。临床免疫学家必须将这些要素整合到指导策略中，以提高患者的预后。
