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Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.
Update on the use of immunoglobulin in human disease: A review of evidence.
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.
Individualized therapy for persistent asthma in young children.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.