Background The Primary Immune Deficiency Treatment Consortium was formed to analyze
the results of hematopoietic-cell transplantation in children with severe combined …

Although the autoantigen involved in Graves’ hyperthyroidism is known to be the TSH
receptor (TSHr), whether this antigen plays a primary role in the pathogenesis of Graves’ …

The Primary Immune Deficiency Treatment Consortium (PIDTC) performed a retrospective
analysis of 662 patients with severe combined immunodeficiency (SCID) who received a …

OBJECTIVES. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and
development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 …

Immunodeficiency often coincides with hyperactive immune disorders such as autoimmunity,
lymphoproliferation, or atopy, but this coincidence is rarely understood on a molecular level…

Eosinophilic esophagitis is a chronic disease that leads to either persistent symptoms or, at
times, intermittent “flares.” It shares many features with other atopic diseases (asthma, …

The thyrotropin receptor (TSHR) is the thyroid autoantigen against which stimulating
autoantibodies are directed in Graves' hyperthyroidism. Recent evidence suggests that TSHR may …

Newborn screening for SCID has revealed the association of low T cells with a number of
unexpected syndromes associated with low T cells, some of which were not appreciated to …

… Khokha MD j k m , Soma Jyonouchi MD a e , Jennifer Heimall MD a e , Patricia Takach
MD g , Paul J. Maglione MD, PhD n , Jason Catanzaro MD j , F. Ida Hsu MD l , Kathleen E. …

Knowledge related to the biology of inborn errors of immunity and associated laboratory
testing methods continues to expand at a tremendous rate. Despite this, many patients with …