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Published on: December 6, 2014
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants
R H Buckley1, R I Schiff, S E Schiff
1Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Insights
Severe combined immunodeficiency (SCID) has various genetic forms with distinct lymphocyte profiles. Understanding these genotypes aids in diagnosing and characterizing SCID, crucial for effective treatment.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe combined immunodeficiency (SCID) is a group of rare genetic disorders.
- SCID affects the development and function of T cells, B cells, and natural killer (NK) cells.
- Genetic mutations lead to diverse clinical presentations and immunological defects in SCID.
Purpose of the Study:
- To determine the relative frequencies of different genetic forms of SCID.
- To identify distinctive immunological characteristics associated with specific SCID genotypes.
Main Methods:
- Analysis of demographic, genetic, and immunologic data from 108 infants with SCID.
- Classification of SCID cases based on identified genetic mutations or undetermined types.
Main Results:
- X-linked SCID (gamma c mutations) was the most frequent form (49 cases).
- Adenosine deaminase (ADA) deficiency caused profound lymphopenia.
- Janus kinase 3 (Jak3) deficiency and X-linked SCID had fewer natural killer (NK) cells, while autosomal recessive and unknown types had higher NK function.
Conclusions:
- SCID genotypes correlate with specific lymphocyte profiles.
- The presence and function of NK cells vary significantly across different SCID types.
- Understanding these genotype-phenotype correlations is vital for SCID diagnosis and management.
Objective:
To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes.
Study Design:
The demographic, genetic, and immunologic features of 108 infants with SCID who were treated consecutively at Duke University Medical Center were analyzed.
Results:
Eighty-nine subjects were boys and 19 were girls; there were 84 white infants, 16 black infants, and 8 Hispanic infants. Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (gamma c), 16 had adenosine deaminase (ADA) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive mutations, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type. Deficiency of ADA caused the most profound lymphopenia; gamma c or Jak3 deficiency resulted in the most B cells and fewest natural killer (NK) cells; NK cells and function were highest in autosomal recessive and unknown types of SCID.
Conclusions:
Different SCID genotypes are associated with distinctive lymphocyte characteristics. The presence of NK function in ADA-deficient, autosomal recessive, and unknown type SCIDs, and low NK function in a majority of gamma c and Jak3 SCIDs indicates that some molecular lesions affect T, B, and NK cells (gamma c and Jak3), others primarily T cells (ADA deficiency), and others just T and B cells.
