Bronchus-associated lymphoid tissue in kabuki syndrome with associated hyper-IgM syndrome/common variable immunodeficiency

A 28-year-old woman with a medical history significant for Kabuki syndrome with associated hyper-IgM syndrome/common variable immunodeficiency presented with a 3-month history of dyspnea, pleuritic pain, and nonproductive cough. Imaging demonstrated nodular infiltrates increasing toward the lung bases (Figure 1A). Bronchoscopy with lavage and transbronchial biopsies was performed to evaluate for an infectious or inflammatory etiology; however, results were unrevealing, and no infectious etiology was identified. Therefore, she underwent a video-assisted thoracic surgery biopsy that demonstrated nodular lymphoid hyperplasia with follicles centered on small airways and areas of organizing pneumonia (Figure 1B). Immunostains demonstrated follicles composed of CD31 T cells and CD201 B cells (Figure 1B) and no morphologic evidence of lymphoma or plasma cell neoplasm. Results were consistent with bronchus-associated lymphoid tissue (BALT). High-dose steroids were administered without resolution of symptoms or radiographic findings. A report of effective responses with rituximab and azathioprine in patients with common variable immunodeficiency who had a similar inflammatory lung process containing tertiary lymphoid structures, granulomas, and organizing pneumonia has been published (1). After four doses of rituximab (weekly), together with the initiation of azathioprine, her symptoms and radiographic findings improved (Figure 1C)

Use of single photon emission computed tomography and magnetic resonance to evaluate central nervous system involvement in patients with juvenile systemic lupus erythematosus

The objective of the present study was to identify the single photon emission computed tomography (SPECT) and magnetic resonance (MR) findings in juvenile systemic lupus erythematosus (JSLE) patients with CNS involvement and to try to correlate them with neurological clinical history data and neurological clinical examination. Nineteen patients with JSLE (16 girls and 3 boys, mean age at onset 9.2 years) were submitted to neurological examination, electroencephalography, cerebrospinal fluid analysis, SPECT and MR. All the evaluations were made separately within a period of 15 days. SPECT and MR findings were analyzed independently by two radiologists. Electroencephalography and cerebrospinal fluid analysis revealed no relevant alterations. Ten of 19 patients (53%) presented neurological abnormalities including present or past neurological clinical history (8/19, 42%), abnormal neurological clinical examination (5/19, 26%), and abnormal SPECT or MR (8/19, 42% and 3/19, 16%, respectively). The most common changes in SPECT were cerebral hypoperfusion and heterogeneous distribution of blood flow. The most common abnormalities in MR were leukomalacia and diffuse alterations of white matter. There was a correlation between SPECT and MR (P<0.05). We conclude that SPECT and MR are complementary and useful exams in the evaluation of neurological involvement of lupus