- Email: [email protected]
P275 Refractory hypereosinophilia manifesting as nodular sclerosis classical hodgkin lymphoma—a case presentation
S70
Abstracts: Poster Sessions / Ann Allergy Asthma Immunol 119 (2017) S17eS96
missense mutation in exon 17 (c.1979 C>A, amino acid change p.Ala660Asp). Conclusion: The need for long term antibiotics to control recurrent skin abscesses should raise suspicion for an underlying immunodeficiency. DOCK8 deficiency should be considered in patients with severe eczema and recurrent abscesses despite appropriate antibiotics. The p.Ala660Asp missense mutation in the DOCK8 gene may represent a novel pathogenic variant.
P275 REFRACTORY HYPEREOSINOPHILIA MANIFESTING AS NODULAR SCLEROSIS CLASSICAL HODGKIN LYMPHOMAdA CASE PRESENTATION L. Martorano*1, P. Ogbogu2, K. Strothman3, 1. Columbus, OH; 2. Chagrin Falls, OH; 3. Plain City, OH. Background: The differential of hypereosinophilia is broad and includes atopy, infection, malignancy, and in rare cases of exclusion, hypereosinophilic syndrome (HES). Thorough evaluation is necessary to elucidate the cause and prevent sequelae of hypereosinophilia. Case Presentation: A 17-year-old male with a history of asthma, allergic rhinitis and depression presented with a 2-month history of fever, fatigue and night sweats. Labs were significant for leukocytosis with an AEC of 20,000. All new medications were discontinued. Infectious including parasitic work up was unremarkable. Chest CT revealed hilar and mediastinal lymphadenopathy. FNA biopsy of a pulmonary lymph node and bone marrow biopsy revealed no evidence of malignancy. Flow cytometry, cytogenetics, karyotyping, and mutation analysis for PDGFRA/B, FGFR1, and JAK 2 were unremarkable. The patient was given a presumptive diagnosis of idiopathic HES; however, did not respond to high dose steroid therapy or hydroxyurea. Further imaging was obtained and PET scan showed diffuse uptake in lung and abdominal lymph nodes with concern for marrow involvement. Excisional biopsy of an abdominal mesenteric lymph node revealed mixed inflammatory infiltrate with scattered atypical cells and binucleate Reed-Sternberg cells, confirming Nodular Sclerosis Hodgkin lymphoma. The patient was started on appropriate chemotherapy with dramatic improvement in his AEC. Discussion: HES is rare and is a diagnosis of exclusion. Lack of response to typical HES therapies should prompt investigation for underlying malignancy or other causes. Eosinophilia may be seen in nearly 15% of cases of Hodgkin’s lymphoma. Delay in diagnosis can lead to morbidity and mortality.
P276 HOMOZYGOUS TRNT1 (TRNA NUCLEOTIDYL TRANSFERASE 1) MUTATION IN A PATIENT WITH PYROPOIKILOCYTOSIS AND HUMORAL IMMUNODEFICIENCY R. Eisenberg1, R. Mehta1, A. Schneider*2, J. Shliozberg2, 1. Bronx, NY; 2. New York, NY. Introduction: Mutation of TRNT1 can lead to sideroblastic anemia, developmental delay, sensorineural hearing loss, periodic fevers, and hypogammaglobulienmia. We describe a unique presentation of homozygous TRNT1 mutation. Methods: Case Report Results: A 9 year old girl with hereditary pyropoikilocytosis and hypogammaglobuliemia initially presented with recurrent viral gastroenteritis, pneumonias and complex febrile seizures. Metabolic and vasculitic screening was negative. MRI showed subcortical infarcts and periventricular ischemia secondary to severe hemolytic anemia versus acute disseminated encephalomyelitis. Her seizures
resolved with steroids and keppra. Immune workup at age 3 revealed hypogammaglobulinemia with poor specific antibody responses for which patient started subcutaneous immunoglobulin (SCIG) and infections improved. SCIG was discontinued at age 9 with subsequent evaluation revealing normal immunoglobulin levels and 13/23 protective antibodies to streptococcus pneumonia post-vaccination. One year after SCIG she was admitted for dehydration secondary to viral gastroenteritis and developed epileptic encephalopathy, cardiac arrest, brain infarctions and subsequent bilateral sensorineural hearing loss. Infectious, vasculitic and autoimmune work-up was negative. She improved with IVIG and methylprednisolone, however hearing loss persisted. The following three months she was admitted for rhinovirus and two pneumonias treated with IVIG and antibiotics. Final admission was complicated by status epilepticus and severe hypoxemia leading to brain death. Autopsy showed cerebral edema with tonsillar herniation, encephalomalacia, hemorrhages, and non-perfused brain. Whole exome sequencing revealed a homozygous mutation in TRNT1. Conclusion: We describe a unique case of TRNT1 mutation presenting with pyropoikilocytosis and specific antibody deficiency who had a rapid decompensation with recurrent pneumonias and intractable seizures of unknown etiology eventually leading to her death.
P277 HYPEREOSINOPHILIA WITH SYSTEMIC SYMPTOMS DUE TO PINWORM V. Nanagas*, J. Montejo, Ann Arbor, MI. Introduction: Enterobiasis is the most common helminthic infection in the U.S. Most patients are asymptomatic but can classically present with perianal itching. Reports of eosinophilic gastrointestinal disease causing abdominal symptoms due to significant worm burden exist, but peripheral eosinophilia is rare. Other cases of enterobiasis describe eosinophilia; however, counts do not reach hypereosinophilic levels, with one exception (absolute eosinophil count (AEC) of 1.9 was found in an asymptomatic adult.) We present a pediatric patient with chronic systemic symptoms who developed hypereosinophilia (AEC 3.0) due to pinworm infection. Methods: An 8-year non-atopic girl presented for hypereosinophilia, intermittent fevers, headaches, weakness for 9 months. Extensive work-up for malignancy, inflammatory myopathies, kidney and gastrointestinal disease, cultures, were negative except for AEC 1.1, otherwise normal counts. Repeat AEC was 2.2 after one month and 3.0 one week later. Medical history includes migraines, recurrent UTIs. Results: Work-up for HES, end organ damage was normal including peripheral blood smear, strongyloides and toxocara titers, serum B12, troponin, echocardiography, CXR, flow cytometry, total IgE, tryptase, ANA, CRP, ESR, and stool studies for ova and parasites. She then presented to the ER with significant rectal pain, no pruritus. On perianal exam, a significant number of pinworms were present. Treatment with pyrantel pamoate resulted in resolution of symptoms and a subsequent AEC of 0.4. Conclusions: We report a case of hypereosinophilia (AEC to 3.0) with systemic symptoms due to pinworm infection in a pediatric patient. The differential for hypereosinophilia should include enterobius vermicularis. The scotch tape method may decrease need for further work-up.
P278 ALTERATION OF SERUM IMMUNOGLOBULIN CONCENTRATIONS IN DYSLIPIDEMIA M. Rusay, M. Bridgeman, M. Patel, L. Brunetti*, Piscataway, NJ. Introduction: Altered serum immunoglobulin (Ig) concentrations are implicated in cardiometabolic disease. Understanding the
Abstracts: Poster Sessions / Ann Allergy Asthma Immunol 119 (2017) S17eS96
missense mutation in exon 17 (c.1979 C>A, amino acid change p.Ala660Asp). Conclusion: The need for long term antibiotics to control recurrent skin abscesses should raise suspicion for an underlying immunodeficiency. DOCK8 deficiency should be considered in patients with severe eczema and recurrent abscesses despite appropriate antibiotics. The p.Ala660Asp missense mutation in the DOCK8 gene may represent a novel pathogenic variant.
P275 REFRACTORY HYPEREOSINOPHILIA MANIFESTING AS NODULAR SCLEROSIS CLASSICAL HODGKIN LYMPHOMAdA CASE PRESENTATION L. Martorano*1, P. Ogbogu2, K. Strothman3, 1. Columbus, OH; 2. Chagrin Falls, OH; 3. Plain City, OH. Background: The differential of hypereosinophilia is broad and includes atopy, infection, malignancy, and in rare cases of exclusion, hypereosinophilic syndrome (HES). Thorough evaluation is necessary to elucidate the cause and prevent sequelae of hypereosinophilia. Case Presentation: A 17-year-old male with a history of asthma, allergic rhinitis and depression presented with a 2-month history of fever, fatigue and night sweats. Labs were significant for leukocytosis with an AEC of 20,000. All new medications were discontinued. Infectious including parasitic work up was unremarkable. Chest CT revealed hilar and mediastinal lymphadenopathy. FNA biopsy of a pulmonary lymph node and bone marrow biopsy revealed no evidence of malignancy. Flow cytometry, cytogenetics, karyotyping, and mutation analysis for PDGFRA/B, FGFR1, and JAK 2 were unremarkable. The patient was given a presumptive diagnosis of idiopathic HES; however, did not respond to high dose steroid therapy or hydroxyurea. Further imaging was obtained and PET scan showed diffuse uptake in lung and abdominal lymph nodes with concern for marrow involvement. Excisional biopsy of an abdominal mesenteric lymph node revealed mixed inflammatory infiltrate with scattered atypical cells and binucleate Reed-Sternberg cells, confirming Nodular Sclerosis Hodgkin lymphoma. The patient was started on appropriate chemotherapy with dramatic improvement in his AEC. Discussion: HES is rare and is a diagnosis of exclusion. Lack of response to typical HES therapies should prompt investigation for underlying malignancy or other causes. Eosinophilia may be seen in nearly 15% of cases of Hodgkin’s lymphoma. Delay in diagnosis can lead to morbidity and mortality.
P276 HOMOZYGOUS TRNT1 (TRNA NUCLEOTIDYL TRANSFERASE 1) MUTATION IN A PATIENT WITH PYROPOIKILOCYTOSIS AND HUMORAL IMMUNODEFICIENCY R. Eisenberg1, R. Mehta1, A. Schneider*2, J. Shliozberg2, 1. Bronx, NY; 2. New York, NY. Introduction: Mutation of TRNT1 can lead to sideroblastic anemia, developmental delay, sensorineural hearing loss, periodic fevers, and hypogammaglobulienmia. We describe a unique presentation of homozygous TRNT1 mutation. Methods: Case Report Results: A 9 year old girl with hereditary pyropoikilocytosis and hypogammaglobuliemia initially presented with recurrent viral gastroenteritis, pneumonias and complex febrile seizures. Metabolic and vasculitic screening was negative. MRI showed subcortical infarcts and periventricular ischemia secondary to severe hemolytic anemia versus acute disseminated encephalomyelitis. Her seizures
resolved with steroids and keppra. Immune workup at age 3 revealed hypogammaglobulinemia with poor specific antibody responses for which patient started subcutaneous immunoglobulin (SCIG) and infections improved. SCIG was discontinued at age 9 with subsequent evaluation revealing normal immunoglobulin levels and 13/23 protective antibodies to streptococcus pneumonia post-vaccination. One year after SCIG she was admitted for dehydration secondary to viral gastroenteritis and developed epileptic encephalopathy, cardiac arrest, brain infarctions and subsequent bilateral sensorineural hearing loss. Infectious, vasculitic and autoimmune work-up was negative. She improved with IVIG and methylprednisolone, however hearing loss persisted. The following three months she was admitted for rhinovirus and two pneumonias treated with IVIG and antibiotics. Final admission was complicated by status epilepticus and severe hypoxemia leading to brain death. Autopsy showed cerebral edema with tonsillar herniation, encephalomalacia, hemorrhages, and non-perfused brain. Whole exome sequencing revealed a homozygous mutation in TRNT1. Conclusion: We describe a unique case of TRNT1 mutation presenting with pyropoikilocytosis and specific antibody deficiency who had a rapid decompensation with recurrent pneumonias and intractable seizures of unknown etiology eventually leading to her death.
P277 HYPEREOSINOPHILIA WITH SYSTEMIC SYMPTOMS DUE TO PINWORM V. Nanagas*, J. Montejo, Ann Arbor, MI. Introduction: Enterobiasis is the most common helminthic infection in the U.S. Most patients are asymptomatic but can classically present with perianal itching. Reports of eosinophilic gastrointestinal disease causing abdominal symptoms due to significant worm burden exist, but peripheral eosinophilia is rare. Other cases of enterobiasis describe eosinophilia; however, counts do not reach hypereosinophilic levels, with one exception (absolute eosinophil count (AEC) of 1.9 was found in an asymptomatic adult.) We present a pediatric patient with chronic systemic symptoms who developed hypereosinophilia (AEC 3.0) due to pinworm infection. Methods: An 8-year non-atopic girl presented for hypereosinophilia, intermittent fevers, headaches, weakness for 9 months. Extensive work-up for malignancy, inflammatory myopathies, kidney and gastrointestinal disease, cultures, were negative except for AEC 1.1, otherwise normal counts. Repeat AEC was 2.2 after one month and 3.0 one week later. Medical history includes migraines, recurrent UTIs. Results: Work-up for HES, end organ damage was normal including peripheral blood smear, strongyloides and toxocara titers, serum B12, troponin, echocardiography, CXR, flow cytometry, total IgE, tryptase, ANA, CRP, ESR, and stool studies for ova and parasites. She then presented to the ER with significant rectal pain, no pruritus. On perianal exam, a significant number of pinworms were present. Treatment with pyrantel pamoate resulted in resolution of symptoms and a subsequent AEC of 0.4. Conclusions: We report a case of hypereosinophilia (AEC to 3.0) with systemic symptoms due to pinworm infection in a pediatric patient. The differential for hypereosinophilia should include enterobius vermicularis. The scotch tape method may decrease need for further work-up.
P278 ALTERATION OF SERUM IMMUNOGLOBULIN CONCENTRATIONS IN DYSLIPIDEMIA M. Rusay, M. Bridgeman, M. Patel, L. Brunetti*, Piscataway, NJ. Introduction: Altered serum immunoglobulin (Ig) concentrations are implicated in cardiometabolic disease. Understanding the