Universal Newborn Screening for Severe Combined Immunodeficiency (SCID) [PDF]
Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with ...
Mirjam van der Burg +5 more
doaj +11 more sources
Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency (SCID) [PDF]
Severe Combined Immunodeficiencies (SCID) are a heterogeneous group of monogenetic diseases. We describe the typical clinical presentation of patients with SCID as well as basic principles in diagnosis and therapy by hematopoietic stem cell ...
Elie Haddad, Manfred Hoenig
doaj +7 more sources
Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation [PDF]
JAK3 is principally activated by members of the interleukin-2 receptor family and plays an essential role in lymphoid development, with inactivating JAK3 mutations causing autosomal-recessive severe combined immunodeficiency (SCID).
Faiza Basheer +3 more
doaj +10 more sources
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts [PDF]
Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from dried blood spots.We describe developments and outcomes from the first 10 years of this program (February 1, 2009, to January 31, 2019).TREC values, diagnostic, and outcome data from all patients ...
Sara Barmettler +2 more
exaly +7 more sources
A high-quality severe combined immunodeficiency (SCID) rat bioresource. [PDF]
Immunodeficient animals are valuable models for the engraftment of exogenous tissues; they are widely used in many fields, including the creation of humanized animal models, as well as regenerative medicine and oncology.
Yoshiki Miyasaka +7 more
doaj +4 more sources
Review of Treatment for Adenosine Deaminase Deficiency (ADA) Severe Combined Immunodeficiency (SCID) [PDF]
Elizabeth Secord,1 Nicholas L Hartog2 1Pediatrics, Division of Allergy and Immunology, Wayne State University School of Medicine, Detroit, MI, USA; 2Pediatrics, Division of Allergy and Immunology, Michigan State University College of Human Medicine ...
Secord E, Hartog NL
doaj +4 more sources
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia [PDF]
Aplastic anemia in the neonate is rare. We report a case of severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. This report highlights the importance of considering SCID early in the evaluation of neonatal aplastic anemia prior to the development of infectious complications.
Akiko Shimamura +2 more
exaly +5 more sources
Evaluation of newborn screening for severe combined immunodeficiency (SCID). [PDF]
Important features about a screening programme for newborn infants are that it should accurately, without too many false positives, detect a disease that is serious, where effective management is readily available and early presymptomatic detection and intervention should reduce morbidity and mortality.
Nightingale R, Cavanagh C, Gennery AR.
europepmc +5 more sources
Severe Combined Immunodeficiency (SCID) and Its New Treatment Modalities. [PDF]
Severe combined immunodeficiency (SCID) is a rare condition with very high mortality. SCID is mainly caused by the multiple mutations of genes affecting the entire immune cells. Children with this disease are born with an impaired immune system. The child appears healthy but the consequences of the impaired immune system lead to various secondary ...
Wadbudhe AM, Meshram RJ, Tidke SC.
europepmc +3 more sources
Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study. [PDF]
Severe Combined Immune Deficiency (SCID) is universally fatal unless treated with hematopoietic stem cell transplantation (HSCT). Following the identification of disseminated Bacille Calmette-Guérin (BCG) infections in Canadian First Nations, Métis and Inuit (FNMI) children with unrecognized primary immune deficiencies, a national surveillance study ...
Rozmus J +12 more
europepmc +4 more sources

