A 2-year-old with severe, unresolving flat warts that resemble tinea versicolor on sun-exposed areas is found to have mutations in the EVER1/EVER2 complex. Which is the most concerning long-term complication?
A 2-year-old boy with invasive pyogenic infections, lacks fever and has undetectable CRP during infection. There is a deficiency of unswitched memory B cells and elevated IgE. Which diagnosis is most likely?
A 2-year-old with suspected combined immunodeficiency has low T-cell counts. Which of the following infections should raise suspicion for Pneumocystis jirovecii pneumonia?
A pediatric HSCT survivor has developed lichen planus-like skin lesions, flexion contractures, and chronic diarrhea. What is the most likely underlying pathogenesis of this complication?
A 4-year-old presents with disseminated non-tuberculous mycobacterial infection and is found to have an autosomal recessive deficiency of the IL-12 receptor β1. What other infection might manifest due to the shared signaling pathway?
A 8-month-old male infant presents with a severe cough, tachypnea, and hypoxemia. A bronchoalveolar lavage fluid PCR is positive for Pneumocystis jirovecii. History reveals the patient has experienced recurrent episodes of otitis media and oral ulcers since 4 months of age. Laboratory evaluation demonstrates profound neutropenia. Which of the following is the most definitive, rapid screening finding to support the suspected diagnosis?
A 6-month-old infant presents with severe dermatitis, lymphadenopathy and diarrhea. Flow cytometry reveals oligoclonal T-cell populations. Which condition should be suspected?
A 5-year-old HSCT recipient develops sudden right upper quadrant pain, jaundice, rapid weight gain, and ascites 3 weeks after transplant. Labs show serum direct bilirubin > 6 mg/dL, marked coagulopathy, and elevated creatinine. Which therapy is most appropriate?
A 16-year-old female is suspected of common variable immunodeficiency (CVID.. Which of the following condition confers a poor prognosis in CVID?
