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Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Clinical experience with an L-proline–stabilized 10 %intravenous immunoglobulin (Privigen®): real-life effectiveness and tolerability.
USIDNET: a strategy to build a community of clinical immunologists.
Bone density and fractures in autosomal dominant hyper IgE syndrome.
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Newborn screening for SCID identifies patients with ataxia telangiectasia.
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.
Molecular and genetic basis of X-linked immunodeficiency disorders.