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Multiple esophageal ulcerations in a patient with severe combined immunodeficiency
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Abstracts
51 Multiple Esophageal Ulcerations in a Patient with Severe Combined Immunodeficiency M. A. Koleilat 1, W. J. Cochrane 2, L. W. Williams3: IPediatrics, Geisinger Medical Center, Danville, PA, 2pediatrics-Gastroenterology, Geisinger Medical Center, Danville, PA, 3pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC. RATIONALE: We have previously noted a high prevalence of GE reflux in infants with SCID. We now report the occurrence of severe esophageal ulcerations after immunoreconstitution in Severe Combined Immunodeficiency. M E T H O D S : Case report/chart review. R E S U L T S : A now 2 and a half-year-old girl was diagnosed with T-BNK+SCID during her first year of life. She received a T cell depleted, haplo-identical, bone marrow stem cell transplant from her mother at 6 months of age, developing a significant response to lymphocyte proliferation tests within 100 days post-transplant. She continued to require IVIG for absent antibody production. Her pre- and post-transplant course was marked by an erythematous exanthem and persisting eosinophilia, but neither GVHD nor maternal engraftment could be proven. At 21 months of age her phytohemagglutin proliferative response was 107,000 cpm (background 2100 cpm). At about 21 months she developed severe dysphagia with eventual weight loss to 8.1 kg. Reflux esophagitis was suspected, but esophageal pH monitoring was not diagnostic tor reflux. Endoscopic gastroduodenoscopy (EGD) revealed 2 large esophageal ulcers. Esophageal biopsies were compatible with reflux esophagitis and ulceration, but not with GVHD. Cultures and stains for fungus, bacteria, CMV and other viruses were negative. There was no improvement while on maximal antireflux therapy. Nissen fundoplication was performed with subsequent improvement of symptoms, endoscopic appearance, and weight gain. CONCLUSIONS: Patients with SCID and GERD may develop severe complications of reflux in the face of full T cell reconstitution.
652 Efectiveness of the Serology Anti Helicobacter Pylori as Diagnostic Method in Infected Patients With HIV Versus Technical of Amplification of the DNA (Polimerase Chain Reaction) C. M a r i a de los R I, G. Sandra 2, F. Marfa Elisa 2, P. Angela 3, P. Mariela4; IUnidad de Inmunologfa, Universidad de Carabobo, Valencia, VENEZUELA, 2Universidad de Carabobo, Valencia, VENEZUELA, 3Centro M6dico Guerra Mendez, Valencia, VENEZUELA, 4Ciudad Hospitalaria Enrique Tejera, Valencia, VENEZUELA. RATIONALE: In order to value the effectiveness of the detection of specific antibodies anti-H.p and the PCR as diagnostic methods in patient HIV+. METHODS: Patient with diagnostic of HIV+, both sexes, older than 18 years, lymphocyte phenotyping, good general conditions. The Good Practical Norms in Clinical Investigation were satisfied. The antibodies anti H.p were done with ELISA, the sample of mucous gastric with endoscopic study and amplification of the DNA H.p by PCR. R E S U L T S : 22 patients were studied: 55% referred gastrointestinal symptoms. 68% of the total group and in 90% of the asymptomatic group, anti H.p was positive. 68% was positive for H,p by PCR (40% were asymptomatic), Patients negative (ELISA), 20% of them confirmed positive by PCR. 80% with positive for H.p and 43% negative, presented count of CD4 above 200 cells. Patients positive by PCR, 73.3% of them had CD4+ above 200, 57.1% negative by PCR had above of 200 CD4+. 53.33% PCR + presented CagA+, 75% was symptomatic and 62.5% had CD4+ >de 200 cell. CONCLUSIONS: The infection for H.p in H1V is generally asymptomatic. Detection of antibodies is an effective in the diagnosis of infection for H.p in these patients, negative serology it does not discard its presence.
53 Immunodeficiency in Jacobsen Syndrome C. D. E. Miller l, A. R. Atkinson2, C. M. Roifman3; qmmunology/Allergy, The Hospital for Sick Children, Toronto, ON, CANADA, 21mmunology/Allergy, The Hospital for Sick Children, Toronto, ON, CANADA, 3Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Hospital for Sick Children, Toronto, ON, CANADA. RATIONALE: Jacobsen syndrome is caused by deletion of the'distal end
J ALLERGY CLIN IMMUNOL FEBRUARY 2003
of the long arm of chromosome I 1. Clinical features include facial dysmorphism, cardiac defects, trigonocephaly, thrombocytopenia, growth and psychomotor retardation. Recurrent infections have been noted in 25-50% of cases depending on the patient series. One case of humoral immune deficiency (decreased IgA and IgM levels) has previously been described. METHODS: A five year old boy with Jacobsen syndrome was referred for immunology assessment because of recurrent pneumonia and bronchiectasis on CT scan. RESULTS: The total IgG, IgA and IgM values were normal but specific titers to isohemagglutinins were low; Anti A 1:4 and Anti B 1:2. Antibody response to pneumococcal antigen was negligible pre and post pneumococcal vaccine. There was no response to a candida intradermal skin test and lymphocyte proliferation tests to mitogens were half of control. CONCLUSIONS: A significant number of Jacobsen syndrome patients have recurrent infections. We have found humoral and cellular immune deficiencies in one patient. It is therefore prudent that Jacobsen syndrome patients should have immunologic assessment in the face of recurrent infections.
Funding: The Hospital for Sick Children
654 Three-Month-Old Male with Stridor J. B. Kim, A. M. Staveren, B. J. Goldberg, M. S. Kaplan; Department of Allergy/Immunology, Kaiser Permanente, Los Angeles, CA. A 3 month old male presents with lifelong stridor and angioedema. The mother reports that the patient has had noisy breathing and intermittent swelling of his extremities, eyelids, and genitalia since birth. He was seen by his physician and given a saline nasal spray for congestion to no avail. He was then seen by Otolaryngology and found to have laryngeal edema, ~'or which he was admitted to the hospital. The patient was otherwise healthy and feeding normally without vomiting or colic, There was no history of skin rash, fever, or diarrhea. There was no family history of angioedema. On physical exam the child was afebrile with normal vital signs. There was angioedema of both eyelids, hands, feet and genitalia without associated erythema or warmth. Stridor was present with good air movement. The abdomen was soft, nontender, with positive bowel sounds. Laboratory workup revealed C4=6.88 mg/dL (normal 20-59). Electrolytes, complete blood count, and erythrocyte sedimentation rate were unremarkable. C 1 esterase inhibitor (C1 INH) functional and quantitative assays are pending. Based on history, clinical findings, and low C4 the patient was given a presumed diagnosis of hereditary angioedema (HAE). HAE is an autosomal dominant disease due to an inherited defect in C 1 INH activity. Absence of this enzyme results in unopposed complement activation with intense, localized edema. It affects 1 in 10,000 to 1 in 150,000 persons without race or sex predominance. Review of the literature indicates that this is one of the youngest reported cases of HAE to date.
55
Kaposi's Sarcoma in a Patient with Indeterminant HIV Status and No Other Etiologic Risk Factors
A. K, Thethi l, J. A. Shuford2, Z. Temesgen2; IAllergy and Immunology, Mayo Clinic, Rochester, MN, 2Infectious Diseases, Mayo Clinic, Rochester, MN. Kaposi's sarcoma (KS) has well established epidemiologic associations. While the most common presentation is in patients with HIV, variants such as classic, immunosuppressive and endemic KS also exist. We present a patient with localized KS who has features consistent with both HIV and endemic KS but no risk factors or confirmatory tests to support either association. A healthy 65-year-old male of Mexican ancestry presented with a vascular papule on his left knee. Biopsy revealed nodular KS, confirmed by 3 different institutions. The patient has no Mediterranean or Jewish heritage and has never traveled to Africa. He denies any history of opportunistic infections, IV drug use, homosexual contact, or blood transfusions but does report contact with prostitutes prior to 1973. HIV serology done at the time of diagnosis was negative for HIV-1 but positive for HIV-2 at 1.65. An indeterminant Western blot revealed a band at p26 only. HIV-2 DNA PCR did not detect any virus. Repeat tests 9 months later indicated negative HIV-I by EIA and RNA PCR less than 400 copies. HIV-2 EIA was again positive at 1.47. HIV-2 Western blot was
Abstracts
51 Multiple Esophageal Ulcerations in a Patient with Severe Combined Immunodeficiency M. A. Koleilat 1, W. J. Cochrane 2, L. W. Williams3: IPediatrics, Geisinger Medical Center, Danville, PA, 2pediatrics-Gastroenterology, Geisinger Medical Center, Danville, PA, 3pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC. RATIONALE: We have previously noted a high prevalence of GE reflux in infants with SCID. We now report the occurrence of severe esophageal ulcerations after immunoreconstitution in Severe Combined Immunodeficiency. M E T H O D S : Case report/chart review. R E S U L T S : A now 2 and a half-year-old girl was diagnosed with T-BNK+SCID during her first year of life. She received a T cell depleted, haplo-identical, bone marrow stem cell transplant from her mother at 6 months of age, developing a significant response to lymphocyte proliferation tests within 100 days post-transplant. She continued to require IVIG for absent antibody production. Her pre- and post-transplant course was marked by an erythematous exanthem and persisting eosinophilia, but neither GVHD nor maternal engraftment could be proven. At 21 months of age her phytohemagglutin proliferative response was 107,000 cpm (background 2100 cpm). At about 21 months she developed severe dysphagia with eventual weight loss to 8.1 kg. Reflux esophagitis was suspected, but esophageal pH monitoring was not diagnostic tor reflux. Endoscopic gastroduodenoscopy (EGD) revealed 2 large esophageal ulcers. Esophageal biopsies were compatible with reflux esophagitis and ulceration, but not with GVHD. Cultures and stains for fungus, bacteria, CMV and other viruses were negative. There was no improvement while on maximal antireflux therapy. Nissen fundoplication was performed with subsequent improvement of symptoms, endoscopic appearance, and weight gain. CONCLUSIONS: Patients with SCID and GERD may develop severe complications of reflux in the face of full T cell reconstitution.
652 Efectiveness of the Serology Anti Helicobacter Pylori as Diagnostic Method in Infected Patients With HIV Versus Technical of Amplification of the DNA (Polimerase Chain Reaction) C. M a r i a de los R I, G. Sandra 2, F. Marfa Elisa 2, P. Angela 3, P. Mariela4; IUnidad de Inmunologfa, Universidad de Carabobo, Valencia, VENEZUELA, 2Universidad de Carabobo, Valencia, VENEZUELA, 3Centro M6dico Guerra Mendez, Valencia, VENEZUELA, 4Ciudad Hospitalaria Enrique Tejera, Valencia, VENEZUELA. RATIONALE: In order to value the effectiveness of the detection of specific antibodies anti-H.p and the PCR as diagnostic methods in patient HIV+. METHODS: Patient with diagnostic of HIV+, both sexes, older than 18 years, lymphocyte phenotyping, good general conditions. The Good Practical Norms in Clinical Investigation were satisfied. The antibodies anti H.p were done with ELISA, the sample of mucous gastric with endoscopic study and amplification of the DNA H.p by PCR. R E S U L T S : 22 patients were studied: 55% referred gastrointestinal symptoms. 68% of the total group and in 90% of the asymptomatic group, anti H.p was positive. 68% was positive for H,p by PCR (40% were asymptomatic), Patients negative (ELISA), 20% of them confirmed positive by PCR. 80% with positive for H.p and 43% negative, presented count of CD4 above 200 cells. Patients positive by PCR, 73.3% of them had CD4+ above 200, 57.1% negative by PCR had above of 200 CD4+. 53.33% PCR + presented CagA+, 75% was symptomatic and 62.5% had CD4+ >de 200 cell. CONCLUSIONS: The infection for H.p in H1V is generally asymptomatic. Detection of antibodies is an effective in the diagnosis of infection for H.p in these patients, negative serology it does not discard its presence.
53 Immunodeficiency in Jacobsen Syndrome C. D. E. Miller l, A. R. Atkinson2, C. M. Roifman3; qmmunology/Allergy, The Hospital for Sick Children, Toronto, ON, CANADA, 21mmunology/Allergy, The Hospital for Sick Children, Toronto, ON, CANADA, 3Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Hospital for Sick Children, Toronto, ON, CANADA. RATIONALE: Jacobsen syndrome is caused by deletion of the'distal end
J ALLERGY CLIN IMMUNOL FEBRUARY 2003
of the long arm of chromosome I 1. Clinical features include facial dysmorphism, cardiac defects, trigonocephaly, thrombocytopenia, growth and psychomotor retardation. Recurrent infections have been noted in 25-50% of cases depending on the patient series. One case of humoral immune deficiency (decreased IgA and IgM levels) has previously been described. METHODS: A five year old boy with Jacobsen syndrome was referred for immunology assessment because of recurrent pneumonia and bronchiectasis on CT scan. RESULTS: The total IgG, IgA and IgM values were normal but specific titers to isohemagglutinins were low; Anti A 1:4 and Anti B 1:2. Antibody response to pneumococcal antigen was negligible pre and post pneumococcal vaccine. There was no response to a candida intradermal skin test and lymphocyte proliferation tests to mitogens were half of control. CONCLUSIONS: A significant number of Jacobsen syndrome patients have recurrent infections. We have found humoral and cellular immune deficiencies in one patient. It is therefore prudent that Jacobsen syndrome patients should have immunologic assessment in the face of recurrent infections.
Funding: The Hospital for Sick Children
654 Three-Month-Old Male with Stridor J. B. Kim, A. M. Staveren, B. J. Goldberg, M. S. Kaplan; Department of Allergy/Immunology, Kaiser Permanente, Los Angeles, CA. A 3 month old male presents with lifelong stridor and angioedema. The mother reports that the patient has had noisy breathing and intermittent swelling of his extremities, eyelids, and genitalia since birth. He was seen by his physician and given a saline nasal spray for congestion to no avail. He was then seen by Otolaryngology and found to have laryngeal edema, ~'or which he was admitted to the hospital. The patient was otherwise healthy and feeding normally without vomiting or colic, There was no history of skin rash, fever, or diarrhea. There was no family history of angioedema. On physical exam the child was afebrile with normal vital signs. There was angioedema of both eyelids, hands, feet and genitalia without associated erythema or warmth. Stridor was present with good air movement. The abdomen was soft, nontender, with positive bowel sounds. Laboratory workup revealed C4=6.88 mg/dL (normal 20-59). Electrolytes, complete blood count, and erythrocyte sedimentation rate were unremarkable. C 1 esterase inhibitor (C1 INH) functional and quantitative assays are pending. Based on history, clinical findings, and low C4 the patient was given a presumed diagnosis of hereditary angioedema (HAE). HAE is an autosomal dominant disease due to an inherited defect in C 1 INH activity. Absence of this enzyme results in unopposed complement activation with intense, localized edema. It affects 1 in 10,000 to 1 in 150,000 persons without race or sex predominance. Review of the literature indicates that this is one of the youngest reported cases of HAE to date.
55
Kaposi's Sarcoma in a Patient with Indeterminant HIV Status and No Other Etiologic Risk Factors
A. K, Thethi l, J. A. Shuford2, Z. Temesgen2; IAllergy and Immunology, Mayo Clinic, Rochester, MN, 2Infectious Diseases, Mayo Clinic, Rochester, MN. Kaposi's sarcoma (KS) has well established epidemiologic associations. While the most common presentation is in patients with HIV, variants such as classic, immunosuppressive and endemic KS also exist. We present a patient with localized KS who has features consistent with both HIV and endemic KS but no risk factors or confirmatory tests to support either association. A healthy 65-year-old male of Mexican ancestry presented with a vascular papule on his left knee. Biopsy revealed nodular KS, confirmed by 3 different institutions. The patient has no Mediterranean or Jewish heritage and has never traveled to Africa. He denies any history of opportunistic infections, IV drug use, homosexual contact, or blood transfusions but does report contact with prostitutes prior to 1973. HIV serology done at the time of diagnosis was negative for HIV-1 but positive for HIV-2 at 1.65. An indeterminant Western blot revealed a band at p26 only. HIV-2 DNA PCR did not detect any virus. Repeat tests 9 months later indicated negative HIV-I by EIA and RNA PCR less than 400 copies. HIV-2 EIA was again positive at 1.47. HIV-2 Western blot was