Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that is characterized by a lack of social interaction, decreased verbal and non-verbal communication skills, and stereotyped repetitive behavior. There is strong evidence that a dysregulated immune response may influence neurodevelopment and thus may have a role in the development of ASD. This study focuses on the characterization of immune cell phenotypes in the BTBR T⁺Itpr3^tf/J (BTBR) mouse strain, a widely used animal model for autism research. Our study demonstrated that BTBR mice have a different immune profile compared to C57BL/6J (B6) mice, which do not display ASD-like characteristics. Thymic cells of BTBR mice have more single positive (SP) CD4⁺ and CD8⁺ T cells and fewer double positive (DP) T cells than B6 mice. The development of T cells is increased in BTBR mice with regard to the double negative (DN4) population being much higher in BTBR mice. The spleens and blood of BTBR mice also have more T helper type 1 (Th1), T helper type 2 (Th2) and T regulatory (Treg) cells compared to B6 mice. Aire expression in the thymus and spleen of BTBR mice compared to B6 mice was equivalent and lower, respectively. The mature natural killer (NK) innate immune cell population in blood and spleen is lower in BTBR than B6 mice; NK cell development is blocked prior to the double positive (DN) CD11b⁺CD27⁺ stage in BTBR mice. Since BTBR mice have more CD4⁺ T cells and elevated numbers of Th1 (T-bet⁺) and Th2 (GATA3⁺) cells, their low defense against pathogen may be explained by the lower number of NK cells and the significantly lower Th1 to Th2 ratio. The elevated number of plasma cells and autoantibodies of BTBR mice may be due to less presence and function of splenic AIRE.

自闭症谱系障碍（ASD）是一种复杂的神经发育疾病，其特征是缺乏社交互动，言语和非言语交流能力下降以及刻板的重复行为。有强有力的证据表明，免疫反应失调可能影响神经发育，因此可能在ASD的发生中起作用。这项研究的重点是BTBR T ⁺ Itpr3 ^tf / J（BTBR）小鼠品系中的免疫细胞表型的表征，该品系是自闭症研究中广泛使用的动物模型。我们的研究表明，BTBR小鼠与不显示ASD样特征的C57BL / 6J（B6）小鼠相比，具有不同的免疫特性。BTBR小鼠的胸腺细胞具有更多的单阳性（SP）CD4 ⁺和CD8与B6小鼠相比，⁺ T细胞和双阳性（DP）T细胞更少。相对于BTBR小鼠中的双重阴性（DN4）群体，BTBR小鼠中T细胞的发育增加。与B6小鼠相比，BTBR小鼠的脾脏和血液还具有更多的T辅助1型（Th1），T辅助2型（Th2）和T调节（Treg）细胞。与B6小鼠相比，BTBR小鼠的胸腺和脾脏中的Aire表达分别相等且更低。BTBR中血液和脾脏中成熟的自然杀手（NK）先天免疫细胞数量低于B6小鼠；在BTBR小鼠中出现双阳性（DN）CD11b ⁺ CD27 ⁺阶段之前，NK细胞发育被阻断。由于BTBR小鼠的CD4 ⁺T细胞和Th1（T-bet ⁺）和Th2（GATA3 ⁺）细胞数量增加，它们对病原体的防御能力低可能是由NK细胞数量减少和Th1与Th2的比率明显降低所解释的。BTBR小鼠的浆细胞和自身抗体数量增加可能是由于脾AIRE的存在和功能较少。