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The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.

Publication ,  Journal Article
Dvorak, CC; Haddad, E; Heimall, J; Dunn, E; Buckley, RH; Kohn, DB; Cowan, MJ; Pai, S-Y; Griffith, LM; Cuvelier, GDE; Eissa, H; Shah, AJ ...
Published in: J Allergy Clin Immunol
February 2023

Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages affected in particular genotypes. In 2014, the Primary Immune Deficiency Treatment Consortium published criteria for diagnosing SCID, which are now revised to incorporate contemporary approaches. Patients with typical SCID must have less than 0.05 × 109 autologous T cells/L on repetitive testing, with either pathogenic variant(s) in a SCID-associated gene, very low/undetectable T-cell receptor excision circles or less than 20% of CD4 T cells expressing naive markers, and/or transplacental maternally engrafted T cells. Patients with less profoundly impaired autologous T-cell differentiation are designated as having leaky/atypical SCID, with 2 or more of these: low T-cell numbers, oligoclonal T cells, low T-cell receptor excision circles, and less than 20% of CD4 T cells expressing naive markers. These patients must also have either pathogenic variant(s) in a SCID-associated gene or reduced T-cell proliferation to certain mitogens. Omenn syndrome requires a generalized erythematous rash, absent transplacentally acquired maternal engraftment, and 2 or more of these: eosinophilia, elevated IgE, lymphadenopathy, hepatosplenomegaly. Thymic stromal defects and other causes of secondary T-cell deficiency are excluded from the definition of SCID. Application of these revised Primary Immune Deficiency Treatment Consortium 2022 Definitions permits precise categorization of patients with T-cell defects but does not imply a preferred treatment strategy.

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Published In

J Allergy Clin Immunol

DOI

EISSN

1097-6825

Publication Date

February 2023

Volume

151

Issue

2

Start / End Page

539 / 546

Location

United States

Related Subject Headings

  • Thymus Gland
  • Severe Combined Immunodeficiency
  • Receptors, Antigen, T-Cell
  • Immunologic Deficiency Syndromes
  • Humans
  • CD4-Positive T-Lymphocytes
  • Allergy
  • 3204 Immunology
  • 1107 Immunology
 

Citation

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Dvorak, C. C., Haddad, E., Heimall, J., Dunn, E., Buckley, R. H., Kohn, D. B., … Puck, J. M. (2023). The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol, 151(2), 539–546. https://doi.org/10.1016/j.jaci.2022.10.022
Dvorak, Christopher C., Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Rebecca H. Buckley, Donald B. Kohn, Morton J. Cowan, et al. “The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.J Allergy Clin Immunol 151, no. 2 (February 2023): 539–46. https://doi.org/10.1016/j.jaci.2022.10.022.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, et al. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2023 Feb;151(2):539–46.
Dvorak, Christopher C., et al. “The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.J Allergy Clin Immunol, vol. 151, no. 2, Feb. 2023, pp. 539–46. Pubmed, doi:10.1016/j.jaci.2022.10.022.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai S-Y, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O’Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2023 Feb;151(2):539–546.
Journal cover image

Published In

J Allergy Clin Immunol

DOI

EISSN

1097-6825

Publication Date

February 2023

Volume

151

Issue

2

Start / End Page

539 / 546

Location

United States

Related Subject Headings

  • Thymus Gland
  • Severe Combined Immunodeficiency
  • Receptors, Antigen, T-Cell
  • Immunologic Deficiency Syndromes
  • Humans
  • CD4-Positive T-Lymphocytes
  • Allergy
  • 3204 Immunology
  • 1107 Immunology