Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation. The outcome for transplantation varies and is dependent on donor status and the condition of the child at the time of transplantation. Diagnosis at birth may allow for better protection of SCID babies from infection and improve transplantation outcome. In thi...

Human Nude/SCID (severe combined immunodeficiency) is the first severe combined immunodeficiency caused by mutation of thewinged–helix–nude(WHN)gene,which is expressed in the thymus but not in the hematopoietic lineage. The disease is characterized by a T-cell defect, congenital alopecia, and nail dystrophy. A Nude/SCID patient who underwentbonemarrowtransplantationfrom the human leukocyte anti...

The ultrastructure of the lymphocytes from ameter of 36-44 nm. The PTA were mostly three children with severe combined imlocated in the centriolar and Golgi regions munodeficiency disease (SCID) is deof the cytoplasm, and were sometimes scribed. Parallel tubular arrays ( PTA) were membrane bound. A centnolar origin of found in a large percentage of circulating the inclusion was suggested. A sec...

Defects causing severe combined immunodeficiency (SCID) have been reported in pathways mediating antigen receptor rearrangement, antigen receptor and cytokine signaling, and purine metabolism. Recognizing that the actin regulator Coronin-1A is essential for development of a normal peripheral T cell compartment in mouse models, we identified absence of Coronin-1A in a girl with T-B+NK+ SCID who ...

Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary dysfunction likely attributable to elevated systemic adenosine levels. Lung disease assessment has primarily employed repetitive radiography and effor...

This paper reports data on the bone, specifically the tibia and mandible, of nonobese diabetic mice with severe combined immunodeficiency disease (NOD-SCID mice) treated with zoledronic acid (ZA) and prednisolone (PSL). The data described here are related to the research article titled "Zoledronic acid basically increases circulating soluble RANKL level in mice, and in glucocorticoid-administra...

PURPOSE OF REVIEW Technical possibilities to screen for inborn errors of immune function at the neonatal stage have been rapidly progressing, whereas the guidelines that apply for the evaluation of benefits and concerns on expanding screening panels have not been broadly discussed for primary immunodeficiency diseases (PID). This review reflects on the assessment of severe combined immunodefici...

This report illustrates a case that would have been missed in the most common screening algorithms used worldwide newborn (NBS) for severe combined immunodeficiency (SCID). Our patient presented with clinical picture suggested inborn error of immunity (IEI). The 6-month-old baby had normal T-cell receptor excision circle (TREC) levels but no measurable level kappa-deleting recombination circles...