Results 241 to 250 of about 572,911 (283)

A severe combined immunodeficiency mutation in the mouse

Nature, 1983
The most debilitating human lymphoid deficiency disease, known as severe combined immunodeficiency (SCID), impairs the differentiation of both T and B lymphocytes. Affected infants are highly susceptible to recurring infections of viruses, fungi and bacteria and invariably die within 2 yr of birth.
Bosma, G C, Custer, R P, Bosma, M J
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Advances in the treatment of severe combined immunodeficiency

Clinical Immunology, 2022
Severe Combined Immunodeficiency (SCID) is the most profound inborn error of immunity affecting cellular and humoral immunity. Hematopoietic stem cell transplantation has been a curative treatment since 1968. Huge progress has been made since then in understanding the underlying genetics, improving outcomes from transplant, and introducing gene therapy
Mary A, Slatter, Andrew R, Gennery
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Chemotactic defects in severe combined immunodeficiency

The Journal of Pediatrics, 1978
Cellular and humoral components of leukotaxis were studied serially in four male infants with severe combined immunodeficiency disease. Two of the four, both lacking B and T cells initially, had a significant defect in neutrophil and monocyte chemotaxis.
Savita Pahwa, Savita Pahwa, Robert A. Good, Robert A. Good, Richard J. O’Reilly, Richard J. O’Reilly, Elena R. Grimes, Elena R. Grimes, Elizabeth M. Smithwick, Elizabeth M. Smithwick, Rajendra N. Pahwa, Rajendra N. Pahwa   +11 more
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Severe combined immunodeficiencies and related disorders

Nature Reviews Disease Primers, 2015
Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic diseases that are characterized by an early onset and a profound block in the development of T lymphocytes. Given that adaptive immunity is abrogated, patients with SCID are prone to recurrent infections caused by both non-opportunistic and opportunistic pathogens, leading ...
Benedicte Neven, Benedicte Neven, Jennifer M. Puck, Luigi D. Notarangelo, Marina Cavazzana, Alain Fischer   +5 more
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Gene therapy of severe combined immunodeficiencies

Immunological Reviews, 2000
Primary immunodeficiency diseases (PID) are attractive candi dates for a gene therapy approach because many of these disorders convey a poor prognosis while a number of the genes mutated in these conditions have been identified. Gene transfer into hematopoietic stem cells (HSC) should, in theory, lead to a cure of the disease.
Salima Hacein-Bey, James P. Di Santo, Claire Soudais, Alain Fischer, Marina Cavazzana-Calvo, Françoise Le Deist, Geneviève de Saint Basile   +6 more
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Jak3 and the pathogenesis of severe combined immunodeficiency

Molecular Immunology, 2004
The discovery that Jak3 mutations are a significant cause of severe combined immunodeficiency (SCID), a rare inherited defect characterized by lymphopenia, has provided valuable insights into the functions of Jak3 in lymphoid development and function.
Paul S. Changelian, Matthew Husa, Rebecca H. Buckley, Joseph L. Roberts, Denise Li, Sigrun R. Hofmann, John J. O'Shea, Fabio Candotti, Wendy T. Watford   +8 more
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Treatment of severe combined immunodeficiency by transplantation

Blut, 1981
This review is meant to show that all approaches other than the use of genotypically or phenotypically identical family donors for bone marrow transplantation aimed at the treatment of SCID leave a lot of unsolved questions open. The results are inconsistant but successful cases have been reported with the various methods.
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Gene therapy of severe combined immunodeficiencies

Nature Reviews Immunology, 2002
The concept that the outcome of a devastating disease can be modified by inserting a transgene into abnormal cells is appealing. However, the gene-transfer technologies that are available at present have limited the success of gene therapy so far. Nevertheless, severe combined immunodeficiencies are a useful model, because gene transfer can confer a ...
Marina Cavazzana-Calvo, Salima Hacein-Bey, Alain Fischer   +2 more
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Dyschromia Related to Severe Combined Immunodeficiency

The American Journal of Dermatopathology, 2013
Severe combined immunodeficiency includes a group of diseases characterized by different inherited immunological defects. A 4-month-old girl diagnosed with Omenn syndrome, a subtype of severe combined immunodeficiency presenting with generalized erythroderma, was referred to our hospital for an allogeneic stem cell transplantation.
Paola Maldonado-Cid, Marta Feito-Rodríguez, Lucero Noguera-Morel, Maria José Beato-Merino, Mariano Casado-Jiménez, Ricardo Moreno-Alonso-de-Celada, Raúl De-Lucas-Laguna   +6 more
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Screening for severe combined immunodeficiency in newborns

Journal of Allergy and Clinical Immunology, 2012
This issue of the Journal is devoted to the critical concept of screening for severe combined immunodeficiency (SCID), a long-sought goal of clinical immunologists engaged in hematopoietic stem cell transplantation (HSCT) for SCID, a congenital disease of many causes that is fatal in the first 1 to 2 years of life. The clinical immunologists chosen for
William T. Shearer, William T. Shearer
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