A 6-year-old child is suspected to suffer from atypical hemolytic uremic syndrome (aHUS). Complement testing shows normal C3 and C4 levels. Which genetic defect is still possible despite normal complement levels?
In a suspected case of chronic active Epstein-Barr virus (CAEBV), which cell types should be evaluated for EBV infection?
A young boy of African descent presents with moderate neutropenia (ANC between 1000-1500/μL). What evaluation should be completed?
A 3-year-old child presents with frequent oral thrush and nail fungal infections. Neutrophil count is normal. Which pathway is primarily implicated in protection against mucocutaneous candidiasis in this patient?
A child with a known PRF1 mutation presents with fever, hepatosplenomegaly, and pancytopenia. What condition is most likely?
A 7-year-old with chronic skin and nail candidiasis has a family history of early-onset diabetes and thyroid disease. Which gene gain-of-function mutation is likely?
A patient with a known CARD11 mutation presents with autoimmune cytopenia and a history of opportunistic infections. This presentation is most consistent with?
An infant with a history of poor control of herpesvirus infections, develops fatal disease after yellow fever vaccination. Which receptor gene deficiency best explains this?
You are evaluating a child with a suspected immunodeficiency who has a history of recurrent sinopulmonary infections, eczema, and thrombocytopenia. Genetic testing reveals a hemizygous mutation in WAS. Which test is most helpful for confirming the diagnosis?
A child presents with disseminated Bacille Calmette-Guérin infection following vaccination, and evaluation shows absent intracellular STAT1 phosphorylation after IFN-γ stimulation. Which of the following is the best next step in management?
