Anthony Hoffnagle was well until 6 months of age, when he was hospitalized for pneumonia. In the…

Anthony Hoffnagle was well until 6 months of age, when he was hospitalized for pneumonia. In the following year he was hospitalized five times for additional episodes of pneumonia, septic arthritis, and febrile convulsion. Yesterday, Anthony was diagnosed with pneumonia caused by Pneumocystis jirovecii, and consultation with an immunologist was requested. Anthony’s tests revealed neutropenia, normal numbers of B cells and T cells, slightly elevated IgM, but a marked decrease in IgG and IgA compared with normal. Autoantibodies against neutrophils were not detected. Liver function tests were normal. Bone marrow aspiration indicated severe maturational arrest of the myeloid lineage at the promyelocyte–myelocyte stage. A diagnosis of X-linked hyper-IgM syndrome (XHIGM) was made. Anthony’s parents were informed that their son would require long-term treatment with intravenous immunoglobulin (IVIG), prophylactic antibiotics, and periodic injection of granulocyte colony-stimulating factor (G-CSF) for episodes of neutropenia. Genetic analysis of the gene encoding _____ revealed a frameshift and stop codon mutation causing aberrant transcription of this gene. a. CD40 ligand b. CD3 c. CD19 d. RAG1 e. CD81.

 

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