severe congenital neutropenia is one of primary immunodeficiency disorders that characterized by severe neutropenia and is associated with severe systemic bacterial infections from  early  infancy.  granulocyte  colony  stimulating  factor  (gcsf)  is  clinically  used  as  a treatment for congenital and acquired neutropenia. the aim of this study was evaluation of gcsf (pd- grastim) in treatme...

Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essential. Definitive treatment is hematopoietic stem cell transplantation, with best outcomes prior to...

The DiGeorge Syndrome results from microdeletion in a small segment of the chromosome 22. When inherited from parents, it follows autosomal dominant patterns. There are variable clinical features related to the DiGeorge Syndrome. The most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcaemia, and psychotic disorders ...

Severe combined immunodeficiency disease (SCID) is a fatal, inherited disease of Arabian foals. Studies characterizing the immunophenotype of lymphoid cells and the defect in V(D)J recombination in SCID foals has improved our understanding of the disease. A definitive test that identifies SCID foals and carrier horses is now available. Author’s address: Dept. of Medical Sciences, University of ...

Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in ...