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Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).

Publication ,  Journal Article
McWilliams, LM; Dell Railey, M; Buckley, RH
Published in: J Allergy Clin Immunol Pract
2015

BACKGROUND: Severe combined immunodeficiency (SCID) is a syndrome uniformly fatal during infancy unless recognized and treated successfully by bone marrow transplantation or gene therapy. Because infants with SCID have no abnormal physical appearance, diagnosis is usually delayed unless newborn screening is performed. OBJECTIVE: In this study, we sought to evaluate the presenting features of all 172 patients with SCID transplanted at this institution over the past 31 years. METHODS: We reviewed original charts from 172 consecutive patients with classic SCID who received either T-cell-depleted HLA-haploidentical (N = 154) or HLA-identical (N = 18) nonablative related marrow transplants at Duke University Medical Center from 1982 to 2013. RESULTS: The mean age at presentation was 4.87 months. When there was a family history of early infant death or known SCID (37%), the mean presentation age was much earlier, 2.0 months compared with 6.6 months. Failure to thrive was common, with 84 patients (50%) having a weight less than the 5th percentile. The leading infections included oral moniliasis (43%), viral infections (35.5%), and Pneumocystis jiroveci (26%) pneumonia. The group mean absolute lymphocyte count (ALC) was 1454/cmm; 88% of the infants had an ALC less than 3000/cmm. An absent thymic shadow was seen in 92% of infants with electronic radiographic data available. An absence of T-cell function was found in all patients. CONCLUSIONS: Infants with SCID appear normal at birth but later present with failure to thrive and/or recurrent fungal, viral, and bacterial infections. Low ALCs and an absent thymic shadow on chest x-ray are key diagnostic clues. The absence of T-cell function confirms the diagnosis.

Duke Scholars

Published In

J Allergy Clin Immunol Pract

DOI

EISSN

2213-2201

Publication Date

2015

Volume

3

Issue

4

Start / End Page

585 / 591

Location

United States

Related Subject Headings

  • Virus Diseases
  • Thymus Gland
  • T-Lymphocytes
  • Severe Combined Immunodeficiency
  • Radiography
  • Pneumonia, Pneumocystis
  • Male
  • Lymphocyte Count
  • Infant, Newborn
  • Infant
 

Citation

APA
Chicago
ICMJE
MLA
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McWilliams, L. M., Dell Railey, M., & Buckley, R. H. (2015). Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID). J Allergy Clin Immunol Pract, 3(4), 585–591. https://doi.org/10.1016/j.jaip.2015.01.026
McWilliams, Laurie M., Mary Dell Railey, and Rebecca H. Buckley. “Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).J Allergy Clin Immunol Pract 3, no. 4 (2015): 585–91. https://doi.org/10.1016/j.jaip.2015.01.026.
McWilliams, Laurie M., et al. “Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).J Allergy Clin Immunol Pract, vol. 3, no. 4, 2015, pp. 585–91. Pubmed, doi:10.1016/j.jaip.2015.01.026.
Journal cover image

Published In

J Allergy Clin Immunol Pract

DOI

EISSN

2213-2201

Publication Date

2015

Volume

3

Issue

4

Start / End Page

585 / 591

Location

United States

Related Subject Headings

  • Virus Diseases
  • Thymus Gland
  • T-Lymphocytes
  • Severe Combined Immunodeficiency
  • Radiography
  • Pneumonia, Pneumocystis
  • Male
  • Lymphocyte Count
  • Infant, Newborn
  • Infant