This patient is presenting with Wiskott-Aldrich syndrome, as seen by the triad of thrombocytopenic purpura (Figure B), multiple infections, and eczema (Figure A). Wiskott-Aldrich is characterized by increased IgE/IgA and decreased IgM.
Wiskott-Aldrich syndrome is an X-linked B and T cell immunodeficiency, which is caused by a defect in the WASP gene on the X chromosome. It causes T cells to be unable to reorganize their actin cytoskeleton and leads to the clinical triad mentioned above. Increased IgE/IgA, decreased IgM, and normal IgG are observed on serologic evaluation. Treatment consists of an HLA-matched bone marrow transplant.
Reust reviews the evaluation of primary immunodeficiency diseases in children. When an immunodeficiency disease is suspected, initial laboratory screening should include a complete blood count with differential and measurement of serum immunoglobulin and complement levels. The presence of lymphocytopenia on complete blood count suggests a T-cell disorder, whereas a finding of neutropenia suggests a phagocytic disorder.
Liu et al. analyzed the mutation of the WASP gene causing Wiskott-Aldrich syndrome (WAS) in 4 Chinese families with WAS in order to identify gene mutations which could help in prenatal diagnosis for the high-risk fetus. Four WASP gene mutations were detected, and identification of these mutations could be used for prenatal screening of WAS.
Figure A demonstrates a child with eczema. Figure B demonstrates the findings of thrombocytopenic purpura.
Answer 1: Increased: IgM, Decreased: IgG, IgA, IgE is characteristic of Hyper-IgM syndrome which causes severe pyogenic infections in the first months of life.
Answer 2: Increased IgE is characteristic of hyper-IgE syndrome in which Th1 cells fail to produce interferon-gamma.
Answer 4: Increased: IgE, Decreased: IgG, IgM is not observed in Wiskott-Aldrich syndrome and is not characteristic of a specific immunodeficiency.
Answer 5: Decreased: IgE, IgM, IgA, IgG is characteristic of X-linked (Bruton's) agammaglobulinemia.
Reust CE. Evaluation of primary immunodeficiency disease in children. Am Fam Physician. 2013 Jun 1;87(11):773-8. Review. PubMed PMID
PMID:23939499 (Link to Abstract)
Liu N, Shi H, Kong X, Wu Q, Xu X, Bai Q, Feng Y, Zhao Z. [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome]. Zhonghua Er Ke Za Zhi. 2014 Sep;52(9):662-6. Chinese. PubMed PMID: 25476427.
PMID:25476427 (Link to Abstract)