Selective Response to Rituximab in a Patient with Salivary Gland ...

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Naveen Nannapaneni, Roula Daher, MD, Pavadee Poowuttikul, and Eliz- abeth Secord; Children's Hospital of Michigan, Detroit, MI. RATIONALE: T-cell receptor ...
AB208 Abstracts

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Treatment of Maternal Lupus Resulting in a Positive Newborn TREC Screen

Naveen Nannapaneni, Roula Daher, MD, Pavadee Poowuttikul, and Elizabeth Secord; Children’s Hospital of Michigan, Detroit, MI. RATIONALE: T-cell receptor excision circles (TRECs) are used in the screening of newborns for severe combined immunodeficiency (SCID). We present a case of a strong-positive newborn TREC screen as a result of treatment of maternal lupus with immunosuppressive agents. METHODS: TREC screen was performed by quantitative PCR at the Michigan Newborn Screening Laboratory. RESULTS: A 13 day-old boy was found to have a strong-positive TREC screen (0-7 TRECs) at full-term birth. There was no family history of immunodeficiency. His mother was being treated for systemic lupus erythematosus (SLE) with daily prednisone 10mg and azathioprine 50mg in addition to hydroxychloroquine 200mg twice daily. She was given prednisone 100mg intravenously at the time of delivery. By 3-weeks of age T cell numbers were improving, but had not normalized. At follow up at 7months of age they had normalized, without any interval infections and he was discharged from our Immunology clinic. CONCLUSIONS: Causes of abnormal TREC screens in newborns include SCID, syndromes associated with T cell lymphopenia such as DiGeorge, lab artifact, and, as with our patient, secondary causes such as immunosuppressants. Notable about this case is the severity of reduction which has not been seen in the five years our state has been screening for SCID. With the ever increasing number of states screening via TRECs, better understanding of these secondary causes of low values will help in identifying true cases of SCID.

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A Case of Familial Invasive Aspergillosis of Unknown Etiology

MONDAY

Ali Doroudchi1, and Brian D. Modena, MD, MS2,3; 1University of California San Diego School of Medicine, La Jolla, CA, 2Molecular Medicine & Scripps Translational Science Institute, The Scripps Research Institute (TSRI), La Jolla, CA, 3Scripps Health, San Diego, CA. RATIONALE: Invasive aspergillosis is typically seen in those with weakened immune systems. This report details a case of a patient and mother who both developed invasive, life-threatening Aspergillusinfection without a history of immunosuppression or inciting factors. METHODS: Lymphocyte antigen and mitogen proliferation panel. RESULTS: 47-year old male with an 8-month history of sinus infections presents with new onset of diplopia. Emergent MRI noted abnormal enhancement of extraocular muscles (left medial and inferior recti) and infiltrative changes involving the bony structures of the skull base. Surgical biopsies revealed necrotizing granulomatous inflammation and fibrosis with invasive fungal organisms. Fungal cultures grew Aspergillus fumigates. Immune work-up: WBC 8.2 K/mcL. Lymphocyte subsets: CD3+ (2233/ mcL), CD4+ (1499/mcL) cells, and CD8+ cells (734 /mcL). Quantitative immunoglobulins were normal. Neutrophil oxidative burst assay was normal. Of interest, lymphocyte antigen and mitogen proliferation assay revealed a normal response to Tetanus antigen and 3 non-specific mitogens, but a low response to Candida antigen. Of note, the patient’s mother died in early adulthood of a disseminated Aspergillusinfection that began as a primary pulmonary infection. CONCLUSIONS: A familial history of invasive Aspergillus infection with abnormal T cell proliferation response to Candida is indicative of a decreased adaptive immune response to fungal elements. We hypothesize there is an underlying, likely inherited, deficiency in the development of fungal specific CD4+ memory T cells, a mechanism yet to be described in the literature. We are hopeful that future testing, including gene sequencing of patient and affected parent DNA will provide further answers.

J ALLERGY CLIN IMMUNOL FEBRUARY 2017

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Selective Response to Rituximab in a Patient with Salivary Gland-Predominant IgG4-Related Disease.

Aaron Ver Heul, MD, PhD1, Richard D. Hammer, MD2, Chokkalingam Siva, MD, FACP2, Robert P. Zitsch, MD, FACS2, and H. James Wedner, MD, FAAAAI3; 1Washington University School of Medicine, Saint Louis, MO, 2University of Missouri School of Medicine, Columbia, MO, 3Washington University School of Medicine, St. Louis, MO. RATIONALE: IgG4-related disease is an immune-mediated disorder including swelling of involved organs with characteristic pathologic findings. Here we describe a 52 year-old woman presenting with swollen salivary glands and associated lymphadenopathy, sicca, rhinosinusitis and arthralgias diagnosed with IgG4-related disease. METHODS: Clinical exams, imaging, biopsy and laboratory evaluation. RESULTS: A neck CT showed multifocal salivary and lacrimal gland enlargement and associated cervical and axillary lymphadenopathy. Paranasal sinuses were clear. Excisional biopsy of the left submandibular gland was performed. Pathologic exam revealed dense lymphoplasmacytic infiltrate. The salivary ducts and acini were atrophic. IgG4 plasma cells were more than 100 per high power field. B cell phenotyping did not reveal increased blasts or a monotypic plasma cell population. Serum IgG was 1730 mg/dl (767-1590). IgG subclasses were notable for IgG1 of 1230 mg/ dl (341-894) and IgG4 of 177 mg/dl (2.4-121). ANA was mildly elevated at 1:320. SS-A, SS-B and dsDNA antibodies were negative. After multiple courses of steroids, swelling persisted, IgG1 remained elevated at 1100 mg/ dl and IgG4 elevated at 211 mg/dl. Six weeks following two 1000 mg doses of rituximab, IgG1 and IgG4 normalized to 850 and 67 mg/dl, respectively. The patient’s swelling and lymphadenopathy resolved, but she remained notably affected with sicca, rhinosinusitis and arthralgias. CONCLUSIONS: This case of IgG4-related disease had typical and atypical features. Although multiple case series report successful off label treatment of IgG4-related disease with rituximab, this case underscores the need for further research into the mechanisms of this disease to inform future treatments.