Clinical and laboratory observationHistopathologic Abnormalities of the Lymphoreticular Tissues in Organic Cation Transporter 2 Deficiency: Evidence for Impaired B Cell Maturation
Section snippets
Methods
In a large family, we found an 844 delC homozygous deletion of the SLC22A5 gene. After the identification of the family,5 autopsy samples were obtained from the male patient reported here. During his life, he had numerous episodes of respiratory tract infections, including otitis, pharyngitis, and pneumonia. He also had hepatomegaly with repeatedly normal transaminases and cardiomegaly with borderline function on ultrasound scanning, which was present since the patient was 1 year old. At the
Results
Well-stratified follicles were present in the lymph nodes (Figure 2, left frame). The mantle zones were separated from the germinal centers; identifiable IgD positive cells were detected in the mantle zone of the lymph node (center frame). The germinal center compartment exhibited pathological hallmarks, which implied a decreased proliferation, as indicated by the decrease of the dark labels of the MIB-1 immunostainings (right frame).
In the spleen, lymph nodes, bone marrow, and only slightly in
Discussion
Besides the typical hepatic and cardiac manifestations, episodes of infections are often reported in patients with OCTN2 deficiency. In our patient, relapses of respiratory tract infections occured almost monthly. This clinical observation pointed toward an impairment of the immune response in OCTN2 deficiency. The availability of autopsy materials pooled from a patient who was OCTN2 deficient enabled us to reveal pathologic alterations in tissues involved in the immune response.
The observed
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Supported by grants from OTKA (T-049589) and ETT (497/2006).