Table 1_Case Report: The first Mainland Chinese case of CTLA4 c.529dupT haploinsufficiency with a 38-year diagnostic delay.docx

She received standard anti-infective therapy, combined glucocorticoids and immunosuppressants, as well as intravenous immunoglobulin (IVIG) replacement; however, these interventions yielded only limited and temporary benefits. After 38 years of disease progression, a primary immunodeficiency was suspected. Whole-exome sequencing (WES) verified the diagnosis of CHAI.

Treatment with sirolimus led to amelioration of infection and diarrheal symptoms. This case exhibited phenotypic differences from prior patients carrying the identical variant. Our observations expand the known phenotypic spectrum of this variant and offer clinical references for the management and genetic testing of patients presenting with early-onset multisystem autoimmunity and immunodeficiency.</p>