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A NEW DIAGNOSIS OF CVID IN A PEDIATRIC PATIENT PRESENTING WITH STREPTOCOCCUS PNEUMONIAE MENINGITIS
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Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
mannose-binding lectin levels (initial 11.9 ng/mL, repeat 3 ng/mL normal range >50 ng/mL). Lymphocyte subsets (T, B and NK cells), quantitative immunoglobulins (IgA, IgM, and IgG), and CH50 were all normal. He was diagnosed with MBL deficiency. Discussion: MBL deficiency is a poorly understood disorder of the innate immune system. There have been limited reports of MBL deficiency despite a high prevalence in certain populations. This case highlights the importance of having innate immune system defects in the differential diagnosis for early diagnosis and management of patients with a history of multiple infections.
M273 A NEW DIAGNOSIS OF CVID IN A PEDIATRIC PATIENT PRESENTING WITH STREPTOCOCCUS PNEUMONIAE MENINGITIS K. Schissler*1, C. Ortega1, V. Hernandez-Trujillo2, J. Calderon1, 1. Miami, FL; 2. Miami Lakes, FL Introduction: Common Variable Immune Deficiency (CVID) can present with a range of organ system involvement, including normal number of B-cells but decreased IgG, eventual decline in IgA and/or IgM, and poor/absent response to vaccinations. Case Description: We report a 15-year-old female, admitted during travel, with psoriasis, recurrent otitis media, pneumonia, and sinusitis presenting with headache, fever, and emesis for two days. CSF meningitis panel was positive for Streptococcus pneumoniae. Immunologic workup revealed hypogammaglobulinemia with subsequent increase in serum IgG levels after IVIG administration. Lymphocyte subset and B-cell panel revealed decreased switched memory B-cells. Total complement and lymphocyte proliferation to mitogens were normal. Outpatient records from lab work obtained one month prior to presentation demonstrated profound hypogammaglobulinemia and the absence of specific antibody titers to vaccines, consistent with CVID. Her hospital course was complicated by acute mental status changes and diffuse cerebral edema, endotracheal tube fungal infection, posterior reversible leukoencephalopathy syndrome, multiple arterial and venous thrombi, and nephrolithiasis. Six months following discharge she is receiving monthly IVIG with no sequelae. Discussion: Patients with CVID are at increased risk for autoimmune disorders (such as psoriasis), granulomatous disease of the lungs, bowel lymphoid nodular hyperplasia, enteropathy, and malignancies (lymphoma, gastric carcinoma). While CVID is most commonly diagnosed in the second or third decade of life, 20% of patients are diagnosed earlier than age 20. Close surveillance of pediatric patients presenting with recurrent sinopulmonary infections is needed, as early recognition is crucial in order to initiate immunoglobulin replacement and prevent long-term sequelae or death from severe infections. Patient’s Immunoglobulin Levels Prior to and During Admission
The patient’s significant hypogammaglobulinemia found upon review of outpatient lab work performed one month prior to presentation can also be seen at the onset of meningitis. At the time of presentation, the patient had neither been diagnosed nor treated for CVID. After IVIG administration the patient’s IgG levels increased as expected leading to clinical improvement.
M274 MISSENSE MUTATION IN NLRP12 ASSOCIATED WITH AN ATYPICAL PERIODIC FEVER SYNDROME J. Simonaire*, B. Ward, Richmond, VA Introduction: NLRP12 encodes for the protein NALP12, which regulates NF-Kb activation. Mutations in this gene are associated with familial cold autoinflammatory syndrome type 2 (FCAS2), which presents with fever, joint pain, and urticarial rash upon exposure to cold temperatures. Few patients with NLRP12 related autoinflammatory disease have been identified, therefore there is little data on the phenotypic presentation of this syndrome. Case Description: A 10-year-old African American boy presented to the ED with a 9-day history of fever and worsening stomatitis. Parents reported recurrent episodes of fever, oral ulcers, and joint pain lasting for 4-8 weeks. He was febrile, and exam demonstrated severe, hemorrhagic stomatitis. Labwork revealed elevated inflammatory markers. An extensive workup was negative. He was subsequently treated with methylprednisone and gradually improved. Sequencing showed a heterozygous variant of uncertain significance in NLRP12: c.193G>C (p.Gly65Arg). He was scheduled for outpatient evaluation but was lost to follow up. Several months later, he presented again to the ED with similar symptoms. As his clinical presentation and genetic testing made an NLRP12-associated autoinflammatory disorder likely, he was treated with anakinra. His symptoms dramatically improved within days. He was transitioned to prophylactic IL-1 blockade with canakinumab, which has prevented further attacks. Discussion: This patient presented with episodes of fevers, stomatitis, and joint pain, which suggested an autoinflammatory syndrome. Genetic testing demonstrated a mutation in NLRP12, leading to successful treatment with IL-1 inhibition. This case expands the clinical phenotype of patients with NLRP12 mutations, as he lacked typical associated features of FCAS2.
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
mannose-binding lectin levels (initial 11.9 ng/mL, repeat 3 ng/mL normal range >50 ng/mL). Lymphocyte subsets (T, B and NK cells), quantitative immunoglobulins (IgA, IgM, and IgG), and CH50 were all normal. He was diagnosed with MBL deficiency. Discussion: MBL deficiency is a poorly understood disorder of the innate immune system. There have been limited reports of MBL deficiency despite a high prevalence in certain populations. This case highlights the importance of having innate immune system defects in the differential diagnosis for early diagnosis and management of patients with a history of multiple infections.
M273 A NEW DIAGNOSIS OF CVID IN A PEDIATRIC PATIENT PRESENTING WITH STREPTOCOCCUS PNEUMONIAE MENINGITIS K. Schissler*1, C. Ortega1, V. Hernandez-Trujillo2, J. Calderon1, 1. Miami, FL; 2. Miami Lakes, FL Introduction: Common Variable Immune Deficiency (CVID) can present with a range of organ system involvement, including normal number of B-cells but decreased IgG, eventual decline in IgA and/or IgM, and poor/absent response to vaccinations. Case Description: We report a 15-year-old female, admitted during travel, with psoriasis, recurrent otitis media, pneumonia, and sinusitis presenting with headache, fever, and emesis for two days. CSF meningitis panel was positive for Streptococcus pneumoniae. Immunologic workup revealed hypogammaglobulinemia with subsequent increase in serum IgG levels after IVIG administration. Lymphocyte subset and B-cell panel revealed decreased switched memory B-cells. Total complement and lymphocyte proliferation to mitogens were normal. Outpatient records from lab work obtained one month prior to presentation demonstrated profound hypogammaglobulinemia and the absence of specific antibody titers to vaccines, consistent with CVID. Her hospital course was complicated by acute mental status changes and diffuse cerebral edema, endotracheal tube fungal infection, posterior reversible leukoencephalopathy syndrome, multiple arterial and venous thrombi, and nephrolithiasis. Six months following discharge she is receiving monthly IVIG with no sequelae. Discussion: Patients with CVID are at increased risk for autoimmune disorders (such as psoriasis), granulomatous disease of the lungs, bowel lymphoid nodular hyperplasia, enteropathy, and malignancies (lymphoma, gastric carcinoma). While CVID is most commonly diagnosed in the second or third decade of life, 20% of patients are diagnosed earlier than age 20. Close surveillance of pediatric patients presenting with recurrent sinopulmonary infections is needed, as early recognition is crucial in order to initiate immunoglobulin replacement and prevent long-term sequelae or death from severe infections. Patient’s Immunoglobulin Levels Prior to and During Admission
The patient’s significant hypogammaglobulinemia found upon review of outpatient lab work performed one month prior to presentation can also be seen at the onset of meningitis. At the time of presentation, the patient had neither been diagnosed nor treated for CVID. After IVIG administration the patient’s IgG levels increased as expected leading to clinical improvement.
M274 MISSENSE MUTATION IN NLRP12 ASSOCIATED WITH AN ATYPICAL PERIODIC FEVER SYNDROME J. Simonaire*, B. Ward, Richmond, VA Introduction: NLRP12 encodes for the protein NALP12, which regulates NF-Kb activation. Mutations in this gene are associated with familial cold autoinflammatory syndrome type 2 (FCAS2), which presents with fever, joint pain, and urticarial rash upon exposure to cold temperatures. Few patients with NLRP12 related autoinflammatory disease have been identified, therefore there is little data on the phenotypic presentation of this syndrome. Case Description: A 10-year-old African American boy presented to the ED with a 9-day history of fever and worsening stomatitis. Parents reported recurrent episodes of fever, oral ulcers, and joint pain lasting for 4-8 weeks. He was febrile, and exam demonstrated severe, hemorrhagic stomatitis. Labwork revealed elevated inflammatory markers. An extensive workup was negative. He was subsequently treated with methylprednisone and gradually improved. Sequencing showed a heterozygous variant of uncertain significance in NLRP12: c.193G>C (p.Gly65Arg). He was scheduled for outpatient evaluation but was lost to follow up. Several months later, he presented again to the ED with similar symptoms. As his clinical presentation and genetic testing made an NLRP12-associated autoinflammatory disorder likely, he was treated with anakinra. His symptoms dramatically improved within days. He was transitioned to prophylactic IL-1 blockade with canakinumab, which has prevented further attacks. Discussion: This patient presented with episodes of fevers, stomatitis, and joint pain, which suggested an autoinflammatory syndrome. Genetic testing demonstrated a mutation in NLRP12, leading to successful treatment with IL-1 inhibition. This case expands the clinical phenotype of patients with NLRP12 mutations, as he lacked typical associated features of FCAS2.