Born seemingly healthy and sent home with their families, 2 decades ago infants with SCID were typically not diagnosed with their fatal disease until they developed recurrent and severe infections months later. Hematopoi-etic stem cell (HSC) transplantation (HSCT), also known as bone marrow transplantation, was established as an effective treatment for SCID by the 1980s. However, without a family history or an astute clinician familiar with this rare disease, infants frequendy died prior to diagnosis and transplantation. Children who received a diagnosis often had malnutrition and critical illness at the time of transplantation, leading to morbidity and mortality. Dr. Rebecca H. Buckley and colleagues hypothesized that treatment of these babies very early in life, prior to developing infections, would improve outcomes. In this Pillars of Immunology article, the study of infants who received HSCT in the first month of life compared with those treated later paved the way for early diagnosis and treatment of children with SCID (1).
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