eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | severe combined immunodeficiency |
| Comorbidity | C0024312|lymphopenia |
| Sentences | 6 |
| PubMedID- 25893636 | The addition of krec based screening would allow identification of concurrent b cell lymphopenia, including patients with delayed-onset ada-scid, however a systematic evaluation of the effectiveness of additional krec screening is not available yet. |
| PubMedID- 24506932 | Results: despite the severe peripheral b-cell lymphopenia, patients with ada-deficient severe combined immunodeficiency showed a partial block in central bm development. |
| PubMedID- 23590417 | The phenotype is usually t-b+nk+ scid with lymphopenia where the clinical findings may be mild (cd3gamma) or severe (cd3delta, epsilon, zeta) owing to the underlying molecular defect. |
| PubMedID- 20547827 | In spite of a severe b cell lymphopenia, patients with leaky scid and with omenn syndrome as a result of hypomorphic rag mutations often have residual ig serum levels, and iges in particular are typically increased (villa et al., 2001; sobacchi et al., 2006), arguing for the presence of iscs. |
| PubMedID- 25170474 | Since its introduction as a public health programme in the united states in the early 1960s, newborn blood screening (nbs) has evolved from the detection of phenylalanine levels on filter paper to the application of dna-based technologies to identify t-cell lymphopenia in infants with severe combined immunodeficiency. |
| PubMedID- 20864885 | Recent findings: as a concept, newborn blood screening (nbs) has evolved from the detection of elevated levels of phenylalanine on filter paper to the application of dna-based technologies to identify t-cell lymphopenia in infants with severe combined immunodeficiency (scid). |
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