• Publications
  • Influence
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
TLDR
The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system that is inherited as a single-locus autosomal dominant trait with variable expressivity.
STAT3 mutations in the hyper-IgE syndrome.
TLDR
Mutations in STAT3 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involving increased innate immune response, recurrent infections, and complex somatic features.
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
TLDR
This updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies, is meant to help in the diagnostic approach to patients with these diseases.
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
TLDR
The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
TLDR
The occurrence of Fas mutations together with abnormal T cell apoptosis in ALPS patients suggests an involvement of Fas in this recently recognized disorder of lymphocyte homeostasis and peripheral self-tolerance.
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
TLDR
Different SCID genotypes are associated with distinctive lymphocyte characteristics and the presence of NK function in ADA-deficient, autosomal recessive, and unknown type SCIDs, and lowNK function in a majority of gamma c and Jak3 SCIDs indicates that some molecular lesions affect T, B, and NK cells, others primarily T cells (ADA deficiency), and others just T and B cells.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
TLDR
This work has identified a gene that is mutated or deleted in autosomal recessive hyper-IgE syndrome that is associated with a phenotype of severe cellular immunodeficiency characterized by susceptibility to viral infections, atopic eczema, defective T-cell activation and T(h)17 cell differentiation, and impaired eosinophil homeostasis and dysregulation of IgE.
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
TLDR
Caspase-8 deficiency in humans is compatible with normal development and shows that caspases has a postnatal role in immune activation of naive lymphocytes, which leads to immunodeficiency.
Inherited Human Caspase 10 Mutations Underlie Defective Lymphocyte and Dendritic Cell Apoptosis in Autoimmune Lymphoproliferative Syndrome Type II
TLDR
Results provide evidence that inherited nonlethal caspase abnormalities cause pleiotropic apoptosis defects underlying autoimmunity in ALPS type II.
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
TLDR
TREC NBS in California has achieved early diagnosis of SCID and other conditions with T-cell lymphopenia, facilitating management and optimizing outcomes, and has revealed the incidence, causes, and follow-up of T- cell lymph Openia in a large diverse population.
...
1
2
3
4
5
...