TREC Screening for WHIM Syndrome.

PURPOSE: T cell receptor excision circle (TREC) quantification is a recent addition to newborn screening (NBS) programs and is intended to identify infants with severe combined immunodeficiencies (SCID). However, other primary immunodeficiency diseases (PID) have also been identified as the result of TREC screening. We recently reported a newborn with a low TREC level on day 1 of life who was diagnosed with WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome, a non-SCID primary immunodeficiency caused by mutations in the chemokine receptor CXCR4. METHODS: We have now retrospectively reviewed the birth and clinical histories of all known WHIM infants born after the implementation of NBS for SCID. RESULTS: We identified six infants with confirmed WHIM syndrome who also had TREC quantification on NBS. Three of the six WHIM infants had low TREC levels on NBS. All six patients were lymphopenic but only one infant had a T cell count below 1,500 cells/µL. The most common clinical manifestation was viral bronchiolitis requiring hospitalization. One infant died of complications related to Tetralogy of Fallot, a known WHIM phenotype. CONCLUSION: The results suggest that WHIM syndrome should be considered in the differential diagnosis of newborns with low NBS TREC levels. TRIAL REGISTRATION: Not applicable.

An Atypical Local Vesicular Reaction to the Yellow Fever Vaccine.

Yellow fever vaccine is a live attenuated viral inoculation indicated for patients traveling to endemic areas. The vaccine is generally well tolerated with minimal adverse effects. Typical side effects include malaise, pain at the injection site, and, albeit rarely, immediate hypersensitivity reactions. We present a case of a rare adverse reaction to yellow fever vaccine in which a patient developed vesicular lesions resulting in bullae and circumferential hyperpigmentation.

Allergen immunotherapy extract treatment set preparation: making a safer and higher quality product for patients.

The best possible allergen immunotherapy clinical outcomes require the provision of high quality and safe allergen immunotherapy extract preparations. Evolving national guidelines and regulatory bodies have devoted special attention to the safe compounding of sterile products, including allergen extracts. It is incumbent upon allergists preparing extract treatment sets for patients to be familiar with and adopt training, procedures and safety measures that lead to standardized high quality products. Preparers and supervisors must maintain ongoing competency in aseptic technique and prescribing principles, such as probable effective dose ranges, allergen cross-reactivity, and separation of high protease-containing extracts from susceptible extracts. Accordingly, knowledge and application of vial labeling, diluent selection, standard operating procedures, mixing log documentation, and mixing condition principles are a necessity. Although there have been no instances of infectious complications from allergen immunotherapy in a century of clinical practice, continued vigilance in the use of measures that ensure extract sterility is paramount. A review of allergen immunotherapy preparation recommendations and best practices based on published national guidelines is presented. Further study of preparation measures and prescribing principles will continue to advance the practice of allergen immunotherapy and offer opportunities for refinement of current recommendations.