Department of Health Sciences, University of Florence, Florence, Italy.
Immunology Division, Section of Pediatrics, Meyer Children's Hospital Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Florence, Italy.
Front Immunol. 2023 Aug 3;14:1224603. doi: 10.3389/fimmu.2023.1224603. eCollection 2023.
We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing haploinsufficiency. The variant was considered pathogenic and was later found in the patient's mother, also affected by CVID. This is the first reported case of a patient with CVID due to mutation presenting with short stature. We analyzed the interconnection between and GH - IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.
我们报告了一例患有普通变异性免疫缺陷症（CVID）的患者，该患者身材矮小，接受了重组人生长激素（rhGH）治疗。全外显子组测序显示，基因（c.904dup，p.Ser302fs）中存在一个新的单核苷酸重复，导致移码突变，从而导致杂合性缺失。该变体被认为是致病性的，并随后在患者的母亲中发现，她也患有 CVID。这是首例报道的由于 突变导致 CVID 并伴有身材矮小的患者。我们分析了 和 GH-IGF-1 通路之间的相互关系，并假设我们患者的 CVID 和身材矮小存在共同的基础。
