HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.
Kids who lose language or skills are less likely to carry a protective immune gene set.
01Research in Context
What this study did
Tamouza et al. (2020) looked at immune genes in 60 Egyptian kids with autism. Half had regressive autism (lost words or skills). Half had non-regressive autism. The team checked which HLA haplotypes each child carried.
What they found
Only 43 % of regressive kids carried HLA-DPA1*01-DPB1*04. In non-regressive kids the rate was 63 %. The gap stayed big after stats. This haplotype seems to protect against the regressive type.
How this fits with other research
Rana et al. (2024) widen the lens. They show sensory problems, maternal anxiety, and neonatal jaundice also split ASD sub-groups. Together the two papers say biology plus early life events shape autism paths.
Higgins et al. (2021) seem to clash. They found no link between maternal gluten antibodies and ASD. But they looked at a different immune marker and at moms, not kids. Different question, different answer — no real fight.
Arcebido et al. (2025) add a sober note. Only 3 in the kids in their network got any genetic test. Ryad’s useful HLA marker may sit on the shelf until clinics order immune typing more often.
Why it matters
You can’t order HLA tests yet, but you can note regression history and flag immune red flags. When intake shows skill loss plus frequent infections, push for full genetic work-up. Track who gets tested; your data can close the gap Kyla et al. found.
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02At a glance
03Original abstract
Autism spectrum disorders (ASD) comprises heterogeneous neurodevelopmental conditions with symptom onset usually during infancy. However, about 10%-30% of affected cases experience a loss of language and social skills around 18-30 months, so-called regressive autism. In this subset with regression, immune dysfunctions including inflammation and autoimmunity have been proposed to be at risk factors. Given the implication of the human histocompatibility antigens (HLA) system in various aspects of immune responses, including autoimmunity, and in ASD, we investigate here the distribution of the HLA Class I and Class II haplotypes in 131 children with ASD meeting DSM-IV TR criteria, with and without regression. We found that 62 of the 98 non-regressive ASD patients carry the HLA-DPA1*01-DPB1*04 sub-haplotype as compared to 14 of the 33 patients with regression (63% vs. 43% respectively, Pc = 0.02), suggesting that this HLA haplotype may exert a protective effect against regression. Similarly, the HLA-DPA1*01-DPB1*04 has also been found to be more represented in healthy controls as compared to patients affected with common nonpsychiatric autoimmune disorders. Overall our findings suggest a possible involvement of HLA polymorphism in the context of regressive ASD. Autism Res 2020, 13: 182-186. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Immune dysfunctions including inflammatory and autoimmune processes have been reported in autism, particularly in regressive forms. In this study, we analyzed the distribution of HLA haplotypes among children with autism spectrum disorder (ASD), with and without regression from Sweden and observed that HLA-DPA1*01-DPB1*04 sub-haplotype was less represented in patients with regressive autism as compared with those without regression. Such possible protective effect, also observed in other common autoimmune disorders, may constitute a link between HLA-mediated immune processes and regressive ASD.
Autism research : official journal of the International Society for Autism Research, 2020 · doi:10.1002/aur.2217