Infection with multiple ganciclovir-resistant human cytomegalovirus mutants, containing different substitutions and deletions in the UL97 gene, was found in a patient with severe combined immunodeficiency (SCID) within 3 weeks of ganciclovir therapy. A novel 11-codon deletion at positions 590 to 600 was identified. These unique findings may be related to the nature of the immunodeficiency in th...

This study was carried out to detect the presence of mutant alleles polysaccharide storage myopathy (PSSM) and severe combined immunodeficiency (SCID) disorders in pacing horses raised different regions Turkey. Blood/hair samples from 264 (182 Indigenous, 31 Iranian, 24 Afghan, 27 Bulgarian) aged 4 over were used. As a result study, mutation-heterozygosis (GA) GYS1 gene related PSSM disease det...

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Severe combined immunodeficiency (SCID) is a rare primary immunodeficiency disease, which renders patients prone to recurrent severe infections in early childhood. Herein, we present a five-month-old boy with SCID who was referred to our center with recurrent diarrhea, respiratory infection and lymphadenopathy. Immunological studies showed hypogammaglobulinemia and low number of T-cells, which ...

scid is a lethal genetic autosomal recessive disorder that has been observed in humans, dogs, mice, and horses. affected animals are incapable of generating specific antigens for immune responses needed to protect them from infectious diseases. the frequency of affected recessive allele varies in different regions so that the outcome of normal breeding with carriers of recessive alleles is diff...

We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia ...

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...

Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and NK cells. X-linked severe combined immunodeficiency (X-SCID) is its most common form. In this report, we describe a 4-month old male with X-SCID who also showed opisthotonic posturing. Opisthotonus represents abnormal motor posturing and is defined as the posturing, in which the neck ...