The biological role of the lipopolysaccharide-responsive beige-like anchor (LRBA) protein associated with the immune system is not to date well known. However, it is thought to regulate the CTLA4 protein, an inhibitory immunoreceptor. Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and growth retardation are some features of LRBA deficiency. This rare disease is observed as a result of homozygous mutations in the LRBA gene. An 11.3-year-old male patient presented because of short stature and high blood glucose level. He had a previous history of lymphoproliferative disease, chronic diarrhea, and recurrent infections. His parents were first-degree consanguineous relatives. A diagnosis of type 1 diabetes mellitus (T1DM) was added to the preexisting diagnoses of immunodeficiency, recurrent infection, enteropathy, chronic diarrhea, lymphadenopathy, hepatomegaly, and short stature. Genetic analysis revealed a homozygous mutation in the LRBA gene, c.5047C>T (p.R1683*) (p.Arg1683*). Abatacept treatment was started: the patient’s hospital admission frequency decreased, and glucose regulation improved. At follow-up, growth hormone (GH) deficiency was diagnosed, although it was not treated because the underlying disease was not under control. Nevertheless, the patient’s height improved with abatacept treatment. LRBA deficiency should be considered in the presence of consanguineous marriage, diabetes, immunodeficiency, and additional autoimmune symptoms. LRBA phenotypes are variable even when the same variants in the LRBA gene are present. Genetic diagnosis is important to determine optimal treatment options. In addition to chronic malnutrition and immunosuppressive therapy, GH deficiency may be one of the causes of short stature in these patients.

迄今为止，与免疫系统相关的脂多糖反应性米色样锚定 (LRBA) 蛋白的生物学作用尚不为人所知。然而，它被认为可以调节 CTLA4 蛋白，一种抑制性免疫受体。慢性腹泻、自身免疫性疾病、器官肿大、频繁的反复感染、低丙种球蛋白血症、慢性肺部表现和生长迟缓是 LRBA 缺乏的一些特征。这种罕见的疾病是由于LRBA 中的纯合突变而观察到的基因。一名 11.3 岁男性患者因身材矮小和高血糖就诊。他既往有淋巴组织增生性疾病、慢性腹泻和反复感染病史。他的父母是一级近亲。1 型糖尿病 (T1DM) 的诊断被添加到免疫缺陷、反复感染、肠病、慢性腹泻、淋巴结病、肝肿大和身材矮小的先前诊断中。遗传分析揭示了LRBA 中的纯合突变基因，c.5047C>T (p.R1683*) (p.Arg1683*)。开始阿巴西普治疗：患者入院次数减少，血糖调节改善。在随访中，诊断出生长激素 (GH) 缺乏症，但由于基础疾病未得到控制而未进行治疗。尽管如此，患者的身高在接受阿巴西普治疗后有所改善。如果存在近亲婚姻、糖尿病、免疫缺陷和其他自身免疫症状，则应考虑 LRBA 缺乏症。即使LRBA基因中存在相同的变异，LRBA 表型也是可变的。基因诊断对于确定最佳治疗方案很重要。除了慢性营养不良和免疫抑制治疗外，GH缺乏可能是这些患者身材矮小的原因之一。