DOCSLIB.ORG

Summer Semester Programme 2015

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Summer Semester Programme 2015 Graduate Program Immunomodulation Summer Semester 2015 Institute for Virology and Immunobiology, 4:00 pm Case Studies in Immunology – A clinical companion. 6th Edition Raif Geha and Luigi Notarangelo Date Speaker Case Ashour, Diyaa 1. X-linked Agammaglobulinemia Bergfeld, Arne 2. CD40 Ligand Deficiency 16th April 2015 Joshi, Hemant Kumar 3. Activation-Induced Cytidine Deaminase Deficiency Ottmüller, Katja 4. Common Variable Immunodeficiency König, Anika 5. X-linked Severe Combined Immunodeficiency Fichtner, Alina 6. Adenosine Deaminase Deficiency Haack, Stephanie 7. Omenn Syndrome 23rd April 2015 Hollmann, Claudia 8. MHC Class II Deficiency John, Vini 9. DiGeorge Syndrome Börner, Kevin 10. Acquired Immune Deficiency Syndrome (AIDS) Ruckdeschel, Anna 11. Graft-Versus-Host Disease Dagvadorj, Nergui 12. MHC Class I Deficiency 30th April 2015 Lange, Julia 13. X-linked Lymphoproliferative Syndrome Collenburg, Lena 14. Hemophagocytic Lymphohistiocytosis Prager, Lisa 15. Chediak-Higashi Syndrome Riaño, Felipe 16. Wiskott-Aldrich Syndrome Rovituso, Damiano 17. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) 07th May 2015 Serfaty, Raquel 18. Immune Dysregulation, Polyendocrinopathy, Enteropathy X-linked Dise Bergfeld, Arne 19. Autoimmune Lymphoproliferative Syndrome (ALPS) Uri, Anna 20. Hyper IgE Syndrome Wohlfahrt, Julia 21. Ataxia Telangiectasia Yoo, Youngeun 22. Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome (WHIM Syndrome) 21st May 2015 Serfaty, Raquel 23. X-linked Hypohidrotic Ectodermal Dysplasia and Immunodeficiency Steinfatt, Tim 24. Interferon-γ Receptor Deficiency Börner, Kevin 25. Severe Congenital Neutropenia Collenburg, Lena 26. Chronic Granulomatous Disease Dagvadorj, Nergui 27. Leukocyte Adhesion Deficiency 28th May 2015 Fichtner, Alina 28. Recurrent Herpes Simplex Encephalitis Haack, Stephanie 29. Interleukin 1 Receptor-Associated Kinase 4 Deficiency Hollmann, Claudia 30. Cogenital Asplenia John, Vini 31. Hereditary Angioedema Joshi, Hemant Kumar 32. Factor I Deficiency 11th June 2015 Kalleda, Natarajaswamy 33. Deficiency of the C8 Complement Component König, Anika 34. Hereditary Periodic Fever Syndromes Lange, Julia 35. Systemic-Onset Juvenile Idiopathic Arthritis Ottmüller, Katja 36. Rheumatoid Arthritis Prager, Lisa 37. Systemic Lupus Erythematosus 18th June 2015 Riaño, Felipe 38. Mixed Essential Cryoglobulinemia Rovituso, Damiano 39. Crohn’s Disease Steinfatt, Tim 40. Multiple Sclerosis 25th June 2015 Practice talk – Retreat: Claudia Hollman, Natarajaswamy Kalleda, Anika König, Julia Lange 2nd July 2015 Practice talk – Retreat: Lena Collenburg, Katja Ottmüller, Damiano Rovituso, Vishakha Tiwarekar 6th – 8th July 2015 Retreat. Immunology Training Network of Tübingen, Erlangen and Würzburg Tiwarekar, Vishakha 41. Autoimmune Hemolytic Anemia Uri, Anna 42. Myasthenia Gravis 16th July 2015 Wohlfahrt, Julia 43. Pemphigus Vulgaris Yoo, Youngeun 44. Celiac Disease Ashour, Diyaa 45. Acute Infectious Mononucleosis Tiwarekar, Vishakha 46. Hemolytic Disease of the Newborn Börner, Kevin 47. Toxic Shock Syndrome 23rd July 2015 Ruckdeschel, Anna 48. Lemromatous Leprosy Dagvadorj, Nergui 49. Acute Systemic Anaphylaxis Fichtner, Alina 50. Allergic Asthma Haack, Stephanie 51. Atopic Dermatitis 30th July 2015 Kalleda, Natarajaswamy 52. Drug-Induced Serum Sickness John, Vini 53. Contact Sensitivity to Poison Ivy .
Load more

Recommended publications
  • WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure
    Journal of Clinical Immunology (2019) 39:532–556 https://doi.org/10.1007/s10875-019-00665-w CME REVIEW WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure Lauren E. Heusinkveld1,2 & Shamik Majumdar1 & Ji-Liang Gao1 & David H. McDermott1 & Philip M. Murphy1 Received: 22 April 2019 /Accepted: 26 June 2019 /Published online: 16 July 2019 # This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2019 Abstract WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow; monocytopenia and lympho- penia, especially B lymphopenia, also commonly occur. WHIM syndrome is usually caused by autosomal dominant mutations in the G protein-coupled chemokine receptor CXCR4 that impair desensitization, resulting in enhanced and prolonged G protein- and β-arrestin-dependent responses. Accordingly, CXCR4 antagonists have shown promise as mechanism-based treatments in phase 1 clinical trials. This review is based on analysis of all 105 published cases of WHIM syndrome and covers current concepts, recent advances, unresolved enigmas and controversies, and promising future research directions. Keywords Chemokine . CXCL12 . CXCR4 . CXCR2 . myelokathexis . human papillomavirus . plerixafor Historical Background [M:E] ratio with a “shift to the right”); and (3) numerous dysmorphic bone marrow neutrophils having cytoplasmic Myelokathexis was first described as a new type of severe hypervacuolation and hyperlobulated pyknotic nuclear lobes congenital neutropenia in 1964 by Krill and colleagues from connected by long thin strands (Fig.
    [Show full text]
  • Prevalence and Incidence of Rare Diseases: Bibliographic Data
    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
    [Show full text]
  • Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
    Practice parameter Practice parameter for the diagnosis and management of primary immunodeficiency Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Chief Editor: Francisco A. Bonilla, MD, PhD Co-Editor: David A. Khan, MD Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ These parameters were developed by the Joint Task Force on Practice Parameters, representing Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ the American Academy of Allergy, Asthma & Immunology; the American College of Novartis and Merck.
    [Show full text]
  • :.. ;}.·:···.·;·1 Congenital Neutropenia
    C HAP T E R 13 >;:.. ;}.·:···.·;·1 CONGENITAL NEUTROPENIA Jill M. Watanabe, MD, MPH, and David C. Dale, MD defined by a neutrophil count less than 1500 cellS/ilL; KEY POINTS beyond 10 years of age, neutropenia is defined by a neu­ trophil count less' than 1800 cells//1L in persons of white Congenital Neutropenia and Asian descent. 1 In persons of African descent, neu­ tropenia is defined by a count of 800--1000 cells//1L. 1 (& Congenital neutropenia encompasses a heterogeneous group of The severity and duration of neutropenia are also clin­ iuheri ted diseases. ically important. Mild neutropenia is usually defined by • The genetic mutations causing congenital neutropenia may neutrophil counts of 1000-1500 cells//1L, moderate neu­ have an isolated effect on the bone marrow but can also affect tropenia is 500-1000 cells//1L, and severe neutropenia one or more other organ systems. is less than 500 cells//1L. Acute neutropenia usually is present for only 5-10 days; neutropenia is chronic if its (& The genetic defects underlying the diseases that cause con­ duration is at least several weeks. Almost all congenital genital neutropenia have been rapidly identified over the past neutropenias are chronic neutropenia. decade. The characteristics and causes of congenital neu­ (& Granulocyte colony-stimulating factor has dramatically tropenia are shown in Tables 13-1 and 13-2, and an algo­ improved the prognosis for children with congenital rithm for their diagnosis is presented in Figure 13-1. neutropenia. SEVERE CONGENITAL NEUTROPENIA Patient'; with severe congenital neutropenia (SCN) typi­ cally present with recurrent bacterial infections and neutrophil count'> persistently less than 200 cells//1L.
    [Show full text]
  • Patient Handbook 3-2-10
    ∑ UNDERSTANDING SEVERE CHRONIC NEUTROPENIA A Handbook for Patients and Their Families Written for the Severe Chronic Neutropenia International Registry By: Audrey Anna Bolyard, R.N., B.S. Laurence Boxer, M.D. Tammy Cottle Carole Edwards, R.G.N/R.S.C.N., BSc. Sally Kinsey, M.D. Peter Newburger, M.D. Beate Schwinzer, Ph.D. Cornelia Zeidler, M.D. Understanding Severe Chronic Neutropenia 1 A handbook for patients and their families Revised February 2010 ∑ Contents Page Introduction 3 How Blood is Formed 3 What is Neutropenia? 4 Overview: Diagnosis & Treatment of Severe Chronic Neutropenia 5 Risk of Myelodysplastic Syndrome and Leukemia 6 Risk of Osteopenia/Osteoporosis 7 Types of Severe Chronic Neutropenia 7 Severe Congenital Neutropenia 8 Cyclic Neutropenia 8 Shwachman-Diamond Syndrome 9 Metabolic disorders with neutropenia 10 Glycogen-Storage Disease Type 1b 10 Barth Syndrome 10 Idiopathic Neutropenia 10 Autoimmune Neutropenia 10 Other Conditions Associated with Neutropenia 11 Genetics of Severe Congenital Neutropenia 11 Diagnostic Tests Used in Severe Chronic Neutropenia 12 Blood Count Monitoring 12 Other Blood Tests 12 Bone Marrow Aspirate / Trephine Biopsy 12 Cytogenetic Evaluation 12 Investigations in Other Conditions 12 Treatment for Severe Chronic Neutropenia 13 Granulocyte-Colony Stimulating Factor (G-CSF) 14 Hematopoietic Stem Cell (Bone Marrow) Transplant 15 Other Treatments 15 Long Term Management of SCN 16 Bone Marrow Monitoring 17 Pregnancy 17 Psychosocial Issues 17 The Severe Chronic Neutropenia International Registry 18 Support Groups 20 Frequently Asked Questions and Answers 20 Information Form for Schools 24 Glossary 25 Understanding Severe Chronic Neutropenia 2 A handbook for patients and their families Revised February 2010 ∑ Introduction Severe chronic neutropenia (SCN) is the name given to a group of conditions in which neutropenia is the primary problem.
    [Show full text]
  • Whole-Exome Sequencing Identifies Causative Mutations in Families
    BASIC RESEARCH www.jasn.org Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract Amelie T. van der Ven,1 Dervla M. Connaughton,1 Hadas Ityel,1 Nina Mann,1 Makiko Nakayama,1 Jing Chen,1 Asaf Vivante,1 Daw-yang Hwang,1 Julian Schulz,1 Daniela A. Braun,1 Johanna Magdalena Schmidt,1 David Schapiro,1 Ronen Schneider,1 Jillian K. Warejko,1 Ankana Daga,1 Amar J. Majmundar,1 Weizhen Tan,1 Tilman Jobst-Schwan,1 Tobias Hermle,1 Eugen Widmeier,1 Shazia Ashraf,1 Ali Amar,1 Charlotte A. Hoogstraaten,1 Hannah Hugo,1 Thomas M. Kitzler,1 Franziska Kause,1 Caroline M. Kolvenbach,1 Rufeng Dai,1 Leslie Spaneas,1 Kassaundra Amann,1 Deborah R. Stein,1 Michelle A. Baum,1 Michael J.G. Somers,1 Nancy M. Rodig,1 Michael A. Ferguson,1 Avram Z. Traum,1 Ghaleb H. Daouk,1 Radovan Bogdanovic,2 Natasa Stajic,2 Neveen A. Soliman,3,4 Jameela A. Kari,5,6 Sherif El Desoky,5,6 Hanan M. Fathy,7 Danko Milosevic,8 Muna Al-Saffar,1,9 Hazem S. Awad,10 Loai A. Eid,10 Aravind Selvin,11 Prabha Senguttuvan,12 Simone Sanna-Cherchi,13 Heidi L. Rehm,14 Daniel G. MacArthur,14,15 Monkol Lek,14,15 Kristen M. Laricchia,15 Michael W. Wilson,15 Shrikant M. Mane,16 Richard P. Lifton,16,17 Richard S. Lee,18 Stuart B. Bauer,18 Weining Lu,19 Heiko M. Reutter ,20,21 Velibor Tasic,22 Shirlee Shril,1 and Friedhelm Hildebrandt1 Due to the number of contributing authors, the affiliations are listed at the end of this article.
    [Show full text]
  • Rush University Medical Center, May 2008
    Chicago Dermatological Society May 2008 Monthly Educational Conference Program Information Continuing Medical Education Certification and Case Presentations Wednesday, May 21, 2008 Conference Host: Department of Dermatology Rush University Medical Center Chicago, Illinois Chicago Dermatological Society 10 W. Phillip Rd., Suite 120 Vernon Hills, IL 60061-1730 (847) 680-1666 Fax: (847) 680-1682 Email: [email protected] CDS Monthly Conference Program May 2008 -- Rush University Medical Center May 21, 2008 8:30 a.m. REGISTRATION & CONTINENTAL BREAKFAST Searle Conference Center, Professional Bldg., 5th Floor; Elevator II 9:00 a.m. - 10:00 a.m. RESIDENT LECTURE Brainard; Searle Conference Center 9:30 a.m. - 11:00 a.m. CLINICAL ROUNDS Patient Viewing Dermatology Clinic - Room 264 Professional Building (Elevator III) Slide Viewing Herrick; Searle Conference Center 11:00 a.m. - 12:00 p.m. GENERAL SESSION Brainard; Searle Conference Center 11:00 a.m. CDS Business Meeting 11:15 a.m. FREDERICK MALKINSON LECTURE -- “Vaccines for the Prevention of Infectious Diseases with Mucocutaneous Manifestations” Stephen K. Tyring, MD, PhD 12:15 p.m. - 1:15 p.m. AWARDS LUNCHEON Garden Room - 5th Floor Professional Building 1:15 p.m. - 3:00 p.m. AFTERNOON GENERAL SESSION Brainard; Searle Conference Center RESEARCH GRANT PRESENTATIONS -- “Evaluation and Manipulation of Cellular Molecular Determinants of ALA-induced PpIx Forumation” Bernhard Ortel, MD; University of Chicago “Topical Therapuetic Options for Keratosis Pilaris” Sarah Kasprowicz, MD; Rush University Discussion of cases observed during morning clinical rounds Joan Guitart, MD, moderator Stephen K. Tyring, MD, PhD CME Information This activity is jointly sponsored by the Chicago Medical Society and the Chicago Dermatological Society.
    [Show full text]
  • Blueprint Genetics Comprehensive Hematology and Hereditary Cancer
    Comprehensive Hematology and Hereditary Cancer Panel Test code: HE1401 Is a 348 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of hematological disorder with genetic predisposition to malignancies. This panel is designed to detect heritable germline mutations and should not be used for the detection of somatic mutations in tumor tissue. Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). Is not recommended for patients with a suspicion of severe Hemophilia A if the common inversions are not excluded by previous testing. An intron 22 inversion of the F8 gene is identified in 43%-45% individuals with severe hemophilia A and intron 1 inversion in 2%-5% (GeneReviews NBK1404; PMID:8275087, 8490618, 29296726, 27292088, 22282501, 11756167). This test does not detect reliably these inversions. Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). About Comprehensive Hematology and Hereditary Cancer Inherited hematological diseases are a group of blood disorders with variable clinical presentation. Many of them predispose to malignancies and for example patients with inherited bone marrow failure syndromes (Fanconi anemia) have a high risk of developing cancer, either leukemia or solid tumors.
    [Show full text]
  • Ocular Toxoplasmosis in a WHIM Syndrome Immunodeficiency Patient[Version 1; Peer Review: 3 Approved]
    F1000Research 2019, 8:2 Last updated: 17 JUL 2019 CASE REPORT Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient [version 1; peer review: 3 approved] David H. McDermott1, Lauren E. Heusinkveld1, Wadih M. Zein2, H. Nida Sen2, Martha M. Marquesen3, Mark Parta4, Sergio D. Rosenzweig5, Gary A. Fahle5, Michael D. Keller6, Henry E. Wiley2, Philip M. Murphy 1 1Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA 2National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA 3Laboratory of Clinical Immunology and Microbiology, National Institute Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA 4Clinical Research Directorate/Clinical Monitoring Research Program, Bethesda, MD, Frederick National Laboratory for Cancer Research sponsored by the National Cancer Institute, Bethesda, Maryland, 20892, USA 5Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, 20892, USA 6Division of Allergy & Immunology, Children’s National Medical Center, Washington, DC, 20010, USA First published: 02 Jan 2019, 8:2 ( Open Peer Review v1 https://doi.org/10.12688/f1000research.16825.1) Latest published: 17 Jul 2019, 8:2 ( https://doi.org/10.12688/f1000research.16825.2) Reviewer Status Abstract Invited Reviewers A patient with WHIM syndrome immunodeficiency presented with sudden 1 2 3 painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated with version 2 trimethoprim-sulfamethoxazole. Vision did not return; however, the published infection did not spread to involve other sites.
    [Show full text]
  • (WHIM) Syndrome Blaine Cloud, Phd, Clinical SCORE, LLC, Marnie Hoolahan, MBA, the Nemetzgroup LLC X4 Pharmaceuticals, Inc., Cambridge, MA, USA
    Emerging Picture of Morbidity in Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome Blaine Cloud, PhD, Clinical SCORE, LLC, Marnie Hoolahan, MBA, The NemetzGroup LLC X4 Pharmaceuticals, Inc., Cambridge, MA, USA Research Summary Results: Patient Histories Conclusions We reviewed existing published knowledge on WHIM as well as interviewed three patients about their experiences, Participants: WHIM patients were each in a different decade of life: 20s, 30s, and 60s. Given WHIM is a relatively newly identified WHIM syndrome’s infrequency and heterogeneous phenotypes have prevented physicians from appreciating the full to better understand how patients with WHIM syndrome present clinically and psychologically, showing a common medical history of some patients. Three (3) female patients diagnosed with WHIM were genetically confirmed to carry theCXCR4 mutation. condition, the oldest patient wasn’t diagnosed until her 60s. picture of its symptoms and prognosis. WHIM was only recently characterized as a named genetic syndrome; in fact only 109 patients have been identified in published literature to date. Many of the 109 cases provide insights into the Introduction Patient 1 Upper respiratory tract infections, with chronic cough throughout childhood and adulthood Patients had psychological commonalities: morbidity and mortality of the syndrome but none provide the psychosocial and emotional insights gleaned through Diagnosed late in life, this small patient research. WHIM syndrome is a rare, autosomal dominant primary immunodeficiency • Patients miss important personal events due to sickness and hospitalizations this 60+ yo WHIM patient Infection from insect bite becomes severe, painful abscess; misses Fewer infections. Genetically 1 This research suggests there are emotional and psychosocial manifestations of WHIM stemming from its broad disease caused by a mutation in the CXCR4 gene.
    [Show full text]
  • WHIM Syndrome
    Trends in Medicine Case Report ISSN: 1594-2848 A case report of a congenital immune deficiency disease – WHIM syndrome Sohrab Aghabeigi1*, Mitra Ranjbar2, Fatemah Tahanian1 and Ahmad Hezarjaribi1 1Department of Internal Medicine, Iran University of Medical Sciences, Tehran, Iran 2Department of Infectious Diseases, Iran University of Medical Sciences, Tehran, Iran Abstract Background: WHIM syndrome is a rare primary immunodeficiency disorder. WHIM is an acronym for some of the characteristic symptoms of the disorder; warts, hypogammaglobulinemia, infections, and myelokathexis. Case-report: A 23-year-old male with a history of recurrent cutaneous and respiratory tract infections -since early childhood- was presented with chronic productive cough, fever, pleuritic chest pain, chills and sweating. Preclinical investigation showed leukopenia, neutropenia, myelokathexis and hypogammaglobulinemia. Patient was diagnosed for WHIM syndrome he also had a positive HBs Ag with normal LFT tests. He was treated with Ciprofloxacin, Vancomycin and IVIG but due to withdrawing the next sessions of IVIG; he was admitted 2 more times with respiratory tract infection and pneumonia that was treated with antibiotics and IVIG again and was discharged with good condition. He is on monthly IVIG and tenofovir because of being HBs Ag positive. Conclusion: This case report provides data of a patient with recurrent respiratory and cutaneous infection who was diagnosed with WHIM syndrome and had a positive Hbs Ag However, his liver function test was normal. Abbreviations: WHIM: Warts, hypogammaglobulinemia, vary greatly from one individual to another. Some patients may have infections and myelokathexis; HPV: Human papilloma virus; HBV: mild expression of the disorder; others may develop potentially life- Hepatitis B virus.
    [Show full text]
  • A Aarskog–Scott Syndrome, 1876 Abbie's Syndrome, 2266 Abdomen
    Index A ABO immune disease, 1159–1160 Aarskog–Scott syndrome, 1876 ABO blood group heterospecificity, 1159 Abbie’s syndrome, 2266 ABO incompatibility, 1160 Abdomen carboxyhemoglobin, 1159 circumference, 151 clinical manifestations of, 1160 distension, 884 DAT-positive newborns, 1160 endocrine diseases, 1857, 1866 IVIG therapy, 1160 gastroenteritis, 1360 UGT1A1 gene, 1160 gastrointestinal malformations, 1296, 1307, 1310, Abortion 1311, 1318 ethical problems, 88 hemorrhage, 1505 genetic causes, 52 neonatal infection, 1740 hemolytic conditions, 1157 neonatal malignancies, 1656 prenatal hemorrhage, 1500–1504 pneumoperitoneum, 884 smoke, 711–712 renal diseases, 1964, 1970 spontaneous, 132 surgical emergencies, 1335 Abruptio placentae, 711, 1116 ventilation techniques, 986, 990 Abscess examination, 465 bacterial and fungal infections imaging studies bone, 1747 defects of the abdominal wall, 1298–1301 cerebral, 1730, 1731, 1741, 1752 duct, 1312 renal, 1745 duodenal obstructions, 1304 skin, 1751 duplication of the alimentary tract, 1316 liver, 1248 esophageal atresia, 1285, 1286 Absolute neutrophil count (ANC), 870, 1550, 1551, 1562 Hirschsprung’s disease, 1347 Absorption, 515–521, 698 intestinal malrotation, 1319 fat, 515–517 intestinal obstructions, 1305–1311 glucose, 518 meconium plug syndrome, 1341 micronutrient, 519–521 necrotizing enterocolitis, 1383 protein, 517–518 persistence of the omphalo-mesenteric duct, 1312 Absorptive enterocytes, 506 pylorus, 1301 Acardia, 141–142 palpation, 459 ACA stroke, 2265 Abdominal Acceleration mass, 748
    [Show full text]