Background The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and
connective tissue characterized by dermatitis, boils, cyst-forming pneumonias, elevated …

The autosomal dominant hyper-IgE syndrome (HIES, ‘Job’s syndrome’) is characterized by
recurrent and often severe pulmonary infections, pneumatoceles, eczema, staphylococcal …

Background Recurrent sinopulmonary and cutaneous viral infections with elevated serum
levels of IgE are features of some variants of combined immunodeficiency. The genetic causes …

The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, …

Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia
and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid …

The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial,
fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, …

Background Mendelian analysis of disorders of immune regulation can provide insight into
molecular pathways associated with host defense and immune tolerance. Methods We …

The molecular mechanisms governing orderly shutdown and retraction of CD4 + type 1
helper T (T H 1) cell responses remain poorly understood. Here we show that complement …

We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated
nontuberculous mycobacterial infections, viral infections, especially with human …

Background. Chronic granulomatous disease (CGD) is due to defective nicotinamide adenine
dinucleotide phosphate oxidase activity and characterized by recurrent infections with a …