Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.

[wiskott-aldrich syndrome]

The lack or marked reduction of recently formed T and B cells provides a basis for neonatal screening for severe combined immunodeficiencies (SCID ) and X-linked agammaglobulinemia (XLA ). Newborns with other conditions are also identified if a severe T or B cell lymphopenia is present at birth . We retrospectively analyzed Guthrie card samples from 11 children with Wiskott-Aldrich syndrome (WAS ), a rare disease that requires early diagnosis and treatment , to determine whether combined T -cell receptor excision circle (TREC ) and kappa-deleting recombination excision circle (KREC ) screening could identify these patients . 4 of 11 patients showed markedly reduced TREC or KREC copy numbers in their DBS as compared to storage-time matched controls and prospectively screened Swedish and German newborns . No correlation was observed between the WAS gene mutations , the clinical severity /course and the result of the screening assay . A diagnosis of WAS should thus be considered in newborns with positive TREC or KREC screening results .

Diseases
Validation

Diseases presenting "agammaglobulinemia" symptom

severe combined immunodeficiency

wiskott-aldrich syndrome

This symptom has already been validated