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Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.
Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency.
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity.
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Coronin-1A: immune deficiency in humans and mice.
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.