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Novel pathological genetic variant associated with DOCK8 deficiency: case report with successful hematopoietic stem cell transplantation

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Deficiency of dedicator of cytokinesis 8 (DOCK8) is a combined immunodeficiency characterized by severe atopic dermatitis, recurrent infections, and elevated serum immunoglobulin E (IgE) levels. Following genetic confirmation, early hematopoietic stem cell tra... ...