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P263 A 5 year-old child with fever and cervical lymphadenopathy
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Abstracts: Poster Sessions / Ann Allergy Asthma Immunol 119 (2017) S17eS96
ultimately speciated with Mycobacterium Kansasii. On autopsy, his splenic lesions contained innumerable AFB. Discussion: This is the first report of localized Mycobacterium Kansasii as the trigger for HLH, as our patient had a negative quantiferon gold, and negative sputum, broncheoalveolar, cerebrospinal, and blood cultures for AFB. This case highlights the importance of considering indolent infections as drivers for HLH, particularly in patients on immunosuppressive medications. In this setting, peripheral cultures may not be fully reliable, and attempts to sample suspicious lesions seen on imaging may be necessary. Empiric treatment for suspected infections may be reasonable, while initiating HLH therapy. This case also highlights important adverse effects of etoposide-based HLH94 therapy, which we believe ultimately led to his death. Therefore, in adult patients with secondary HLH, the risk-benefit ratio of de-escalating HLH94 therapy should be strongly considered when therapy related mucositis and neutropenia are present.
P261
cells (4,651 cells/mm3, 86%), CD3+4+ cells (3,131 cells/mm3, 58%), CD3+CD8+ cells (1,239 cells/mm3, 27%). A primary antibody deficiency panel for 38 genetic defects was negative. Repeat testing revealed some increase in B-cells (7.2%; 189 cells/mm3), but further decline in IgG (293 mg/dL) and IgA (<8 mg/dL), but IgM remained normal (36 mg/dL). IVIG was started at 500 mg/kg every 3 weeks and he became infection-free, then spaced to every 4 weeks. Conclusion: Despite this child’s young age, the findings are suggestive of CVID. A role for biotinidase deficiency is unclear. Biotinidase deficiency causes neurologic and cutaneous symptoms, but from 3 siblings in one case report, various presentations of immune deficiency. In humans, biotin supplementation decreases cytokines IL-2 and IL-4, and increases IL-1b and interferon-g. Whole exome and whole genome sequencing might reveal a new genetic mutation, but because of the cost-benefit ratio was deferred at this time. These findings suggest an early onset of CVID with a possible role for biotinidase deficiency.
P263
A 15-YEAR JOURNEY: FROM RELAPSING POLYCHONDRITIS TO IGG4-RELATED DISEASE W. Cosme-Blanco*1, S. Nazario2, 1. Guaynabo, PR; 2. San Juan, PR.
A 5 YEAR-OLD CHILD WITH FEVER AND CERVICAL LYMPHADENOPATHY M. Nassiri*1, J. Burkhardt2, L. Raymond1, M. Jeroudi1, J. Bocchini1, S. Bahna1, 1. Shreveport, LA; 2. Bossier City, LA.
Introduction: Relapsing polychondritis is a rare disease of unknown etiology characterized by recurrent inflammation involving multiple cartilaginous structures throughout the body. A handful of reports have suggested a possible connection of IgG4related disease with the pathogenesis of relapsing polychondritis. IgG4-related disease is also an uncommon immune-mediated systemic inflammation disorder that can involve the pancreas, kidneys, salivary glands, aorta, orbits, and skin, among others. The hallmark of this disease is a lymphoplasmacytic infiltrate enriched in IgG4positive plasma cells and fibrosis in involved tissues. Approximately 70-80% of the patients can also have elevated IgG4 serum level. We are reporting a rare case that after many years diagnosed with relapsing polychondritis got complicated with IgG4-related disease. Case Presentation: Our patient, a 70-year-old male, initially presented to the hospital with iritis approximately 15 years ago. Several years later, he was diagnosed with relapsing polychondritis after a gallium scan showed a systemic inflammation with multiple areas of abnormal intensity involving different bones, nasal septum, costochondral cartilage, and thoracoabdominal aorta. Recent review of a biopsy from a periaortic lesion showed moderate lymphoplasmacytic infiltrate with fibrin and signs of chronic inflammation. Further workup showed serum hypergammaglobulinemia and elevated IgG4 levels. The patient was treated initially with methotrexate with minimal response. However, he was not compliant with treatment. He is now pending a corticosteroid trial. Conclusion: We report a patient with long-time diagnosis of relapsing polychondritis complicated by IgG4-related disease. Although the association between both diseases is not fully understood, our case suggests a link between them.
Introduction: Fever and cervical lymphadenopathy during childhood is common but the underlying cause ranges from a common treatable infection to a potentially fatal malignancy. Case: A 5-y-o male presented with fever and neck swelling. Newborn screening showed G6PD deficiency. Had a past hospitalization a year ago for pneumonia and cervical lymphadenopathy, but no bleeding tendency. PE: T 38.2 C, cervical lymphadenopathy, gingivitis, and splenomegaly. CBC: WNL except for severe neutropenia (181/mL). Antibiotics started but discontinued when cultures were negative. Viral studies were positive for Entero/ Rhinoviruses. Bone marrow and lymph node biopsies showed no infection or malignancy. Neutropenia evaluation was negative except for neutrophil-autoantibodies. Neutropenia persisted and developed lymphopenia (1340/mL). Discharged on neutropenia precautions and filgrastim 5 mg/kg daily which was discontinued after 30 days because of poor response. Rehospitalized because of fever and marked splenomegaly, but no evidence of infection. Flowcytometry showed CD3: 735/mL (1253-2216), 66% (64-83), TCR a/b DNTCs 95/mL (11-37), elevated IL-10 888 pg/mL, IL-18 4184 pg/ mL, vitamin B12 >6000 pg/mL. Prednisone and sirolimus improved the cell counts, lymph nodes, and spleen size. Discussion: The findings were consistent with autoimmune lymphoproliferative syndrome (ALPS) with autoimmune neutropenia. Lymphopenia was unexpected and caused delay in diagnosis. Conclusion: This is an unusual case of ALPS that was associated with lymphopenia, autoimmune neutropenia, and G6PD deficiency. This findings emphasize the importance of evaluating patients with persistent lymphadenopathy for ALPS, even in the absence of lymphocytosis.
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P264
A 3-YEAR-OLD MALE WITH RECURRENT SINUSITIS AND BIOTINIDASE DEFICIENCY J. Burkhardt*1, S. Bahna2, 1. Bossier City, LA; 2. Shreveport, LA.
IGG4-RELATED ORBITAL DISEASE WITH ANCA POSITIVITY: A CASE REPORT V. Eng*, T. Jean, D. Pourang, A. Ramanathan, K. Eichhorn, A. Hever, S. Samant, Los Angeles, CA.
Case report: A 3-y-o Caucasian male on replacement therapy for partial biotinidase deficiency (50%) presented with recurrent sinusitis that responds to antibiotics to recur few days after discontinuation. His immunizations were up-to-date. He had pneumonia at 1 y and recurrent OM with recent PE tube placement. Results: He had low IgG (381 mg/dL), IgA (14 mg/dL), low CD19+ cells (1.9%; 103 cells/mm3), IgE (<2 IU/mL), and low antibody to tetanus, diphtheria, and pneumococcus. T cell proliferation was normal, except to tetanus. Had normal IgM (57 mg/dL), total CD3+
Introduction: IgG4-related disease (IgG4-RD) is a fibro-inflammatory condition characterized by IgG4 plasma cell infiltration that can affect any organ system which can overlap with ANCA vasculitides (AAV). Methods: A 9 year old monozygotic female twin with microcephaly, developmental delay, 47 XXX karyotype, asthma, and nonallergic rhinitis presented with recurrent episodes of bilateral periocular swelling for 3 months. She was initially diagnosed with
Abstracts: Poster Sessions / Ann Allergy Asthma Immunol 119 (2017) S17eS96
ultimately speciated with Mycobacterium Kansasii. On autopsy, his splenic lesions contained innumerable AFB. Discussion: This is the first report of localized Mycobacterium Kansasii as the trigger for HLH, as our patient had a negative quantiferon gold, and negative sputum, broncheoalveolar, cerebrospinal, and blood cultures for AFB. This case highlights the importance of considering indolent infections as drivers for HLH, particularly in patients on immunosuppressive medications. In this setting, peripheral cultures may not be fully reliable, and attempts to sample suspicious lesions seen on imaging may be necessary. Empiric treatment for suspected infections may be reasonable, while initiating HLH therapy. This case also highlights important adverse effects of etoposide-based HLH94 therapy, which we believe ultimately led to his death. Therefore, in adult patients with secondary HLH, the risk-benefit ratio of de-escalating HLH94 therapy should be strongly considered when therapy related mucositis and neutropenia are present.
P261
cells (4,651 cells/mm3, 86%), CD3+4+ cells (3,131 cells/mm3, 58%), CD3+CD8+ cells (1,239 cells/mm3, 27%). A primary antibody deficiency panel for 38 genetic defects was negative. Repeat testing revealed some increase in B-cells (7.2%; 189 cells/mm3), but further decline in IgG (293 mg/dL) and IgA (<8 mg/dL), but IgM remained normal (36 mg/dL). IVIG was started at 500 mg/kg every 3 weeks and he became infection-free, then spaced to every 4 weeks. Conclusion: Despite this child’s young age, the findings are suggestive of CVID. A role for biotinidase deficiency is unclear. Biotinidase deficiency causes neurologic and cutaneous symptoms, but from 3 siblings in one case report, various presentations of immune deficiency. In humans, biotin supplementation decreases cytokines IL-2 and IL-4, and increases IL-1b and interferon-g. Whole exome and whole genome sequencing might reveal a new genetic mutation, but because of the cost-benefit ratio was deferred at this time. These findings suggest an early onset of CVID with a possible role for biotinidase deficiency.
P263
A 15-YEAR JOURNEY: FROM RELAPSING POLYCHONDRITIS TO IGG4-RELATED DISEASE W. Cosme-Blanco*1, S. Nazario2, 1. Guaynabo, PR; 2. San Juan, PR.
A 5 YEAR-OLD CHILD WITH FEVER AND CERVICAL LYMPHADENOPATHY M. Nassiri*1, J. Burkhardt2, L. Raymond1, M. Jeroudi1, J. Bocchini1, S. Bahna1, 1. Shreveport, LA; 2. Bossier City, LA.
Introduction: Relapsing polychondritis is a rare disease of unknown etiology characterized by recurrent inflammation involving multiple cartilaginous structures throughout the body. A handful of reports have suggested a possible connection of IgG4related disease with the pathogenesis of relapsing polychondritis. IgG4-related disease is also an uncommon immune-mediated systemic inflammation disorder that can involve the pancreas, kidneys, salivary glands, aorta, orbits, and skin, among others. The hallmark of this disease is a lymphoplasmacytic infiltrate enriched in IgG4positive plasma cells and fibrosis in involved tissues. Approximately 70-80% of the patients can also have elevated IgG4 serum level. We are reporting a rare case that after many years diagnosed with relapsing polychondritis got complicated with IgG4-related disease. Case Presentation: Our patient, a 70-year-old male, initially presented to the hospital with iritis approximately 15 years ago. Several years later, he was diagnosed with relapsing polychondritis after a gallium scan showed a systemic inflammation with multiple areas of abnormal intensity involving different bones, nasal septum, costochondral cartilage, and thoracoabdominal aorta. Recent review of a biopsy from a periaortic lesion showed moderate lymphoplasmacytic infiltrate with fibrin and signs of chronic inflammation. Further workup showed serum hypergammaglobulinemia and elevated IgG4 levels. The patient was treated initially with methotrexate with minimal response. However, he was not compliant with treatment. He is now pending a corticosteroid trial. Conclusion: We report a patient with long-time diagnosis of relapsing polychondritis complicated by IgG4-related disease. Although the association between both diseases is not fully understood, our case suggests a link between them.
Introduction: Fever and cervical lymphadenopathy during childhood is common but the underlying cause ranges from a common treatable infection to a potentially fatal malignancy. Case: A 5-y-o male presented with fever and neck swelling. Newborn screening showed G6PD deficiency. Had a past hospitalization a year ago for pneumonia and cervical lymphadenopathy, but no bleeding tendency. PE: T 38.2 C, cervical lymphadenopathy, gingivitis, and splenomegaly. CBC: WNL except for severe neutropenia (181/mL). Antibiotics started but discontinued when cultures were negative. Viral studies were positive for Entero/ Rhinoviruses. Bone marrow and lymph node biopsies showed no infection or malignancy. Neutropenia evaluation was negative except for neutrophil-autoantibodies. Neutropenia persisted and developed lymphopenia (1340/mL). Discharged on neutropenia precautions and filgrastim 5 mg/kg daily which was discontinued after 30 days because of poor response. Rehospitalized because of fever and marked splenomegaly, but no evidence of infection. Flowcytometry showed CD3: 735/mL (1253-2216), 66% (64-83), TCR a/b DNTCs 95/mL (11-37), elevated IL-10 888 pg/mL, IL-18 4184 pg/ mL, vitamin B12 >6000 pg/mL. Prednisone and sirolimus improved the cell counts, lymph nodes, and spleen size. Discussion: The findings were consistent with autoimmune lymphoproliferative syndrome (ALPS) with autoimmune neutropenia. Lymphopenia was unexpected and caused delay in diagnosis. Conclusion: This is an unusual case of ALPS that was associated with lymphopenia, autoimmune neutropenia, and G6PD deficiency. This findings emphasize the importance of evaluating patients with persistent lymphadenopathy for ALPS, even in the absence of lymphocytosis.
P262
P264
A 3-YEAR-OLD MALE WITH RECURRENT SINUSITIS AND BIOTINIDASE DEFICIENCY J. Burkhardt*1, S. Bahna2, 1. Bossier City, LA; 2. Shreveport, LA.
IGG4-RELATED ORBITAL DISEASE WITH ANCA POSITIVITY: A CASE REPORT V. Eng*, T. Jean, D. Pourang, A. Ramanathan, K. Eichhorn, A. Hever, S. Samant, Los Angeles, CA.
Case report: A 3-y-o Caucasian male on replacement therapy for partial biotinidase deficiency (50%) presented with recurrent sinusitis that responds to antibiotics to recur few days after discontinuation. His immunizations were up-to-date. He had pneumonia at 1 y and recurrent OM with recent PE tube placement. Results: He had low IgG (381 mg/dL), IgA (14 mg/dL), low CD19+ cells (1.9%; 103 cells/mm3), IgE (<2 IU/mL), and low antibody to tetanus, diphtheria, and pneumococcus. T cell proliferation was normal, except to tetanus. Had normal IgM (57 mg/dL), total CD3+
Introduction: IgG4-related disease (IgG4-RD) is a fibro-inflammatory condition characterized by IgG4 plasma cell infiltration that can affect any organ system which can overlap with ANCA vasculitides (AAV). Methods: A 9 year old monozygotic female twin with microcephaly, developmental delay, 47 XXX karyotype, asthma, and nonallergic rhinitis presented with recurrent episodes of bilateral periocular swelling for 3 months. She was initially diagnosed with