Details

Autor(en) / Beteiligte

• Nickels, Andrew S., MD
• Abraham, Roshini S., PhD

Titel

Newborn Screening for Severe Combined Immunodeficiency: Changing the Landscape of Pediatric Primary Immunodeficiencies

Ist Teil von

• The journal of allergy and clinical immunology in practice (Cambridge, MA), 2015-11, Vol.3 (6), p.1008-1009

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• Three patients did not receive definitive treatment of SCID (ie, bone marrow transplant, gene therapy, or adenosine deaminase enzyme treatment) because of early deaths from perinatal complications. Category of T-cell abnormality Condition No. of infants Syndromes with T-cell impairment  136  DiGeorge 78  Trisomy 21 21  Ataxia telangiectasia 4  Trisomy 18 4  CHARGE 3  Jacobsen 2  CLOVES 1  ECC 1  Fryns 1  Nijmegen breakage 1  Noonan 1  Rac2 defect 1  Renpenning 1  TAR 1  Not specified 10  Cytogenetic abnormalities 6 Secondary T-cell impairment  117  Cardiac anomalies 30  Multiple congenital anomalies 23  Loss into third space 15  Gastrointestinal anomalies 15  Neonatal leukemia 4  Not specified 30 Preterm birth alone  12 Variant SCID  29 Unspecified/idiopathic T cell lymphopenia  117 Table I Diagnoses and associated conditions of 411 infants identified as having non-SCID T-cell lymphopenia by T-cell receptor excision circle newborn screen CHARGE, Coloboma, heart defect, atresia choanae, retarded growth and development, genital and ear abnormality; CLOVES, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies; ECC, ectodermal dysplasia, ectrodactyly, and clefting; SCID, severe combined immunodeficiency; TAR, thrombocytopenia and absent radius.