… Where possible we have cross-referenced the mutations indicated here with those in an X-CGD
database that lists X91 CGD patients by accession number. This database contains …

Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1
in 250,000 individuals. The disease is caused by mutations in the genes encoding the …

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 …

Pediatric Coronavirus Disease 2019 (pCOVID-19) is rarely severe; however, a minority of
children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) might …

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

… Inclusion in an NLM database does not imply endorsement of, or agreement with, the …
EQR, LI, LRB, MD, GLM, RC, FC, CR, AB, PB, DB, DWC, and AL provided patient samples. LDN, …

Background Failure to generate phagocyte-derived superoxide and related reactive oxygen
intermediates (ROIs) is the major defect in chronic granulomatous disease, causing …

Whole-exome sequencing was performed in a family affected by dominantly inherited
inflammatory disease characterized by recurrent blistering skin lesions, bronchiolitis, arthralgia, …

The absence of cancer-restricted surface markers is a major impediment to antigen-specific
immunotherapy using chimeric antigen receptor (CAR) T cells. For example, targeting the …

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