Prevention of Infections During Primary Immunodeficiency
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IDF Patient & Family Handbook
Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficiency Diseases This book contains general medical information which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this book should not be used as a substitute for professional medical advice. FIFTH EDITION COPYRIGHT 1987, 1993, 2001, 2007, 2013 IMMUNE DEFICIENCY FOUNDATION Copyright 2013 by Immune Deficiency Foundation, USA. REPRINT 2015 Readers may redistribute this article to other individuals for non-commercial use, provided that the text, html codes, and this notice remain intact and unaltered in any way. The Immune Deficiency Foundation Patient & Family Handbook may not be resold, reprinted or redistributed for compensation of any kind without prior written permission from the Immune Deficiency Foundation. If you have any questions about permission, please contact: Immune Deficiency Foundation, 110 West Road, Suite 300, Towson, MD 21204, USA; or by telephone at 800-296-4433. Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficency Diseases 5th Edition This publication has been made possible through a generous grant from Baxalta Incorporated Immune Deficiency Foundation 110 West Road, Suite 300 Towson, MD 21204 800-296-4433 www.primaryimmune.org [email protected] EDITORS R. Michael Blaese, MD, Executive Editor Francisco A. Bonilla, MD, PhD Immune Deficiency Foundation Boston Children’s Hospital Towson, MD Boston, MA E. Richard Stiehm, MD M. Elizabeth Younger, CPNP, PhD University of California Los Angeles Johns Hopkins Los Angeles, CA Baltimore, MD CONTRIBUTORS Mark Ballow, MD Joseph Bellanti, MD R. Michael Blaese, MD William Blouin, MSN, ARNP, CPNP State University of New York Georgetown University Hospital Immune Deficiency Foundation Miami Children’s Hospital Buffalo, NY Washington, DC Towson, MD Miami, FL Francisco A. -
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. -
Repercussions of Inborn Errors of Immunity on Growth☆ Jornal De Pediatria, Vol
Jornal de Pediatria ISSN: 0021-7557 ISSN: 1678-4782 Sociedade Brasileira de Pediatria Goudouris, Ekaterini Simões; Segundo, Gesmar Rodrigues Silva; Poli, Cecilia Repercussions of inborn errors of immunity on growth☆ Jornal de Pediatria, vol. 95, no. 1, Suppl., 2019, pp. S49-S58 Sociedade Brasileira de Pediatria DOI: https://doi.org/10.1016/j.jped.2018.11.006 Available in: https://www.redalyc.org/articulo.oa?id=399759353007 How to cite Complete issue Scientific Information System Redalyc More information about this article Network of Scientific Journals from Latin America and the Caribbean, Spain and Journal's webpage in redalyc.org Portugal Project academic non-profit, developed under the open access initiative J Pediatr (Rio J). 2019;95(S1):S49---S58 www.jped.com.br REVIEW ARTICLE ଝ Repercussions of inborn errors of immunity on growth a,b,∗ c,d e Ekaterini Simões Goudouris , Gesmar Rodrigues Silva Segundo , Cecilia Poli a Universidade Federal do Rio de Janeiro (UFRJ), Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil b Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Curso de Especializac¸ão em Alergia e Imunologia Clínica, Rio de Janeiro, RJ, Brazil c Universidade Federal de Uberlândia (UFU), Faculdade de Medicina, Departamento de Pediatria, Uberlândia, MG, Brazil d Universidade Federal de Uberlândia (UFU), Hospital das Clínicas, Programa de Residência Médica em Alergia e Imunologia Pediátrica, Uberlândia, MG, Brazil e Universidad del Desarrollo, -
Which Antibiotic Prophylaxis Guidelines for Infective Endocarditis Should Canadian Dentists Follow?
Debate & O P I N I O N Which Antibiotic Prophylaxis Guidelines for Infective Endocarditis Should Canadian Dentists Follow? Contact Author Herve Y. Sroussi, DMD, PhD; Ashwin R. Prabhu, BDS; Dr. Epstein Joel B. Epstein, DMD, MSD, FRCD(C) Email: [email protected] For citation purposes, the electronic version is the definitive version of this article: www.cda-adc.ca/jcda/vol-73/issue-5/401.html ental providers must keep up to date 2 weeks following a procedure, dental proced- with antibiotic prophylaxis guidelines ures conducted even months earlier may be Dfor infectious endocarditis (IE) as these questioned as causative of IE.4 Furthermore, guidelines represent standards of care and periodontal and dental disease increase the determine medicolegal standards. A survey risk of bacteremia with activities of daily of Canadian dentists revealed that practi- living and may more commonly cause bac- tioners tend to employ antibiotic prophylaxis teremia; therefore, good oral care is of para- according to the guidelines in place at the mount importance in patients with conditions time of their graduation from dental school that place them at risk for IE. — guidelines that often do not meet the cur- To reduce the risk of IE following dental rent standards,1 as both the American Heart procedures, prophylactic measures have Association (AHA)2 and the British Society been developed by experts in the fields of for Antimicrobial Chemotherapy (BSAC)3 have microbiology, epidemiology, cardiology and currently updated their recommendations. dentistry. The principle preventive measure Host factors that increase the risk of IE recommended is the use of prophylactic anti- include specific cardiac abnormalities, a biotics before certain dental procedures in pa- previous episode of IE and the extent of the tients identified as at risk. -
Retrospective Diagnosis of X-Linked Hyper-Igm Syndrome in a Family With
Letters to the Editor ical malignancies. One of the proband’s brothers (Patient Retrospective diagnosis of X-linked hyper-IgM III.4) was hospitalized 6-7 times a year with recurrent, syndrome in a family with multiple deaths of affected males severe bacterial infections of the gastrointestinal and res - piratory tracts until his death at age 10. Laboratory eval - uations between 1971 and 1977 demonstrated severe hypo-gammaglobulinemia with normal or elevated IgM All males in two generations of a Hungarian fam - levels (IgG, 0.85-2.95 g/L; IgA, 0.10-0.87 g/L; IgM, 1.37- ily died of interstitial pneumonia. History and 3.72 g/L). These data together with the family history records suggested X-linked hyper-IgM syndrome suggested X-HIG. 1-2 (X-HIGM). DNA sequencing of a female carrier We performed mutational analysis of the CD40L of the revealed a c. 654C →A transversion of the CD40L proband and her mother. The proband’s aunt (II.4) who gene that predicts premature termination of CD40L died at 70 years of age, and had no children, was not synthesis. This report points to the importance of available for genetic testing. Genomic DNA was isolated early carrier detection and genetic counseling in from whole blood samples. Exons 1 to 5 of the CD40L, families with X-linked primary immunodeficiency and the flanking intron regions were amplified by PCR. 3 diseases. We propose that the c.654C →A sequence The PCR products were sequenced with the BigDye variant may associate with severe X-HIGM pheno - Terminator Cycle sequencing kit (Applied Biosystems). -
Antibiotic Prophylaxis for Surgical Procedures
Summary and Conclusions Antibiotic Prophylaxis for Surgical Procedures A Systematic Review Swedish Council on Health Technology Assessment SBU Board of Directors and Scientific Advisory Committee Secretariat MÅNS ROSÉN Executive Director, SBU Board of Directors NINA REHNQVIST BJÖRN KLINGE MARGARETA TROEIN Karolinska Institute, Solna Karolinska Institute, TÖLLBORN (Chair) Solna The Swedish Society of Medicine EVA NILSSON BÅGENHOLM MÅNS ROSÉN The Swedish Medical SBU MATS ULFENDAHL Association The Swedish Research KARIN STRANDBERG NÖJD Council HÅKAN CEDER The Swedish Association The National Board of Local Authorities and SABINA WIKGREN ORSTAM of Health and Welfare Regions The Swedish Association ANNA-KARIN EKLUND HÅKAN SÖRMAN of Local Authorities and Swedish Association The Swedish Association Regions of Health Professionals of Local Authorities and Regions Scientific Advisory Committee DAVID BERGQVIST MATS G HANSSON ULF NÄSLUND Uppsala University Uppsala University Norrland University Hospital (Chair) Hospital, Umeå MIKAEL HELLSTRÖM BJÖRN BEERMANN Sahlgrenska Hospital, JOAKIM RAMSBERG Medical Products Agency, Gothenburg i3 Innovus, Stockholm Uppsala MARGARETA MÖLLER BO RUNESON CHRISTINA BERGH University Hospital, Karolinska Institute, Sahlgrenska Hospital, Örebro Solna Gothenburg JÖRGEN NORDENSTRÖM GUNNEL SVENSÄTER CECILIA BJÖRKELUND Karolinska University Malmö University Gothenburg University Hospital, Solna ANIA WILLMAN 2 SBU'S SUMMARY AND CONCLUSIONS SÖLVE ELMSTÅHL OLOF NYRÉN Blekinge Institute of University Hospital, Karolinska Institute, -
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. -
X Inactivation and Immunocompetence in Female Carriers of the X-Linked Hyper-Igm Syndrome
X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome. T J Kipps J Clin Invest. 1994;94(2):469-469. https://doi.org/10.1172/JCI117355. Editorial Find the latest version: https://jci.me/117355/pdf X Inactivation and Immunocompetence in Female Carriers of the X-linked Hyper-lgM Syndrome Editorial Immunocompetence requires cognate cell-cell communication severe combined immune deficiency, in which carriers predomi- that is mediated through cell surface ligand-receptor interac- nately generate mature lymphocytes that express the normal tions (1). An important player in such interactions is CD40, a allele. type I membrane glycoprotein that is expressed by a variety of Cases of extreme Lyonization can result in phenotype ex- cells, including B cells, monocytes, dendritic cells, and thymic pression of an X-linked disease in the female carrier, as has epithelial cells. Crosslinking this surface molecule can induce been noted in cases of Wiskott-Aldrich syndrome, hemophilia maturation, activation, and/or proliferation of CD40-bearing A, or Duchenne muscular dystrophy. However, with regard to cells. This is mediated by the CD40-ligand (otherwise called the relative number of T cells that can express a functional gp39 or TRAP), a type II membrane glycoprotein that is ex- CD40-ligand, it seems that a little can go a long way. This may pressed on the surface of T cells 6-8 h after their immune reflect the presence of signaling pathways other than that of the activation (2). CD40-CD40-ligand, that, once primed by a relatively small The importance of the CD40-CD40-ligand interaction is number of CD40-ligand-expressing T cells, can perpetuate the underscored by the X-linked hyper-IgM syndrome. -
A Curated Gene List for Reporting Results of Newborn Genomic Sequencing
© American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE A curated gene list for reporting results of newborn genomic sequencing Ozge Ceyhan-Birsoy, PhD1,2,3, Kalotina Machini, PhD1,2,3, Matthew S. Lebo, PhD1,2,3, Tim W. Yu, MD3,4,5, Pankaj B. Agrawal, MD, MMSC3,4,6, Richard B. Parad, MD, MPH3,7, Ingrid A. Holm, MD, MPH3,4, Amy McGuire, PhD8, Robert C. Green, MD, MPH3,9,10, Alan H. Beggs, PhD3,4, Heidi L. Rehm, PhD1,2,3,10; for the BabySeq Project Purpose: Genomic sequencing (GS) for newborns may enable detec- of newborn GS (nGS), and used our curated list for the first 15 new- tion of conditions for which early knowledge can improve health out- borns sequenced in this project. comes. One of the major challenges hindering its broader application Results: Here, we present our curated list for 1,514 gene–disease is the time it takes to assess the clinical relevance of detected variants associations. Overall, 954 genes met our criteria for return in nGS. and the genes they impact so that disease risk is reported appropri- This reference list eliminated manual assessment for 41% of rare vari- ately. ants identified in 15 newborns. Methods: To facilitate rapid interpretation of GS results in new- Conclusion: Our list provides a resource that can assist in guiding borns, we curated a catalog of genes with putative pediatric relevance the interpretive scope of clinical GS for newborns and potentially for their validity based on the ClinGen clinical validity classification other populations. framework criteria, age of onset, penetrance, and mode of inheri- tance through systematic evaluation of published evidence. -
Guideline on Antibiotic Prophylaxis for Dental Patients at Risk for Infection
american academy of pediatric dentistry Guideline on Antibiotic Prophylaxis for Dental Patients at Risk for Infection Originating Committee clinical affairs committee Review Council council on clinical affairs Adopted 1990 Revised 1991, 1997, 1999, 2002, 2005, 2007, 2008 Purpose may be at increased risk. If a patient reports a syndrome or The American Academy of Pediatric Dentistry (AAPD) recog- medical condition with which the practitioner is not familiar, nizes that numerous medical conditions predispose patients it is appropriate to contact the child’s physician to determine to bacteremia-induced infections. Because it is not possible to susceptibility to bacteremia-induced infections. predict when a susceptible patient will develop an infection, In 2007, the American Heart Association (AHA) released its prophylactic antibiotics are recommended when these patients newly revised guidelines for the prevention of IE and reducing undergo procedures most likely to produce bacteremia. This the risk for producing resistant strains of bacteria.3 The 2007 guideline is intended to help practitioners make appropriate revision was based on relevant literature and studies, in con- decisions regarding antibiotic prophylaxis for dental patients sultation with national and international experts. The AAPD, at risk. acknowledging the AHA’s expertise and efforts to produce evidenced-based recommendations, continues to endorse the Methods AHA guideline for antibiotic prophylaxis, now entitled “Pre- This guideline is based on a review of current dental and medical vention of Infective Endocarditis”. literature pertaining to postprocedural bacteremia-induced The primary reasons for the revision include: infections. A MEDLINE search was performed using the key- • “IE is much more likely to result from frequent exposure words “infective endocarditis” (IE), “bacteremia”, “antibiotic to random bacteremias associated with daily activities than prophylaxis”, and “dental infection”. -
Antibiotic Prophylaxis for GI Endoscopy
GUIDELINE Antibiotic prophylaxis for GI endoscopy This is one of a series of statements discussing the use of procedure. Endoscopy-related bacteremia carries a small GI endoscopy in common clinical situations. The Stan- risk of localization of infection in remote tissues (ie, infec- dards of Practice Committee of the American Society for tive endocarditis [IE]). Endoscopy also may result in local Gastrointestinal Endoscopy (ASGE) prepared this docu- infections in which a typically sterile space or tissue is ment, and it updates a previously issued document on breached and contaminated by an endoscopic accessory this topic.1 In preparing this guideline, MEDLINE and or by contrast material injection. This document is an up- PubMed databases were used to search for publications date of the prior ASGE document on antibiotic prophylaxis between January 1975 and December 2013 pertaining for GI endoscopy,1 discusses infectious adverse events to this topic. The search was supplemented by accessing related to endoscopy, and provides recommendations for the “related articles” feature of PubMed, with articles periprocedural antibiotic therapy. identified on MEDLINE and PubMed as the references. Additional references were obtained from the bibliogra- phies of the identified articles and from recommenda- BACTEREMIA ASSOCIATED WITH tions of expert consultants. When few or no data were ENDOSCOPIC PROCEDURES available from well-designed prospective trials, emphasis was given to results from large series and reports from Bacteremia can occur after endoscopic procedures and has been advocated as a surrogate marker for IE risk. How- recognized experts. Weaker recommendations are indi- fi cated by phrases such as “We suggest.” whereas stronger ever, clinically signi cant infections are extremely rare. -
Antibiotic Prophylaxis for Surgical Procedures: a Scoping Review
01 Pan American Journal Review of Public Health 02 03 04 05 06 Antibiotic prophylaxis for surgical procedures: 07 08 a scoping review 09 10 11 1,2 2 1 2 2 Eva Brocard, Ludovic Reveiz, Jean-Philippe Régnaux, Veronica Abdala, Pilar Ramón-Pardo, 12 and Ana del Rio Bueno2 13 14 15 16 Suggested citation Brocard E, Reveiz L, Régnaux J-P, Abdala V, Ramón-Pardo P, del Rio Bueno A. Antibiotic prophylaxis for surgical procedures: 17 a scoping review. Rev Panam Salud Publica. 2021;45:e62. https://doi.org/10.26633/RPSP.2021.62 18 19 20 21 ABSTRACT Objectives. To map the current evidence on surgical antibiotic prophylaxis (SAP) administration and identify 22 knowledge gaps in the literature available in this field. 23 Methods. The PubMed, Cochrane Library, Epistemonikos, and Health Systems Evidence databases were 24 searched from January 2015 to March 2020 for systematic reviews published in English, French, Portuguese, 25 and Spanish. 26 Results. Eighty-three systematic reviews were included, the quality of the reviews was assessed using 27 AMSTAR 2, and data were extracted for all primary outcomes. Perioperative antibiotic administration, the use 28 of first generation cephalosporins, and surgical site infection (SSI) were the most commonly reported for timing 29 of antibiotic administration, drug class, and primary outcome, respectively. Findings showed that, overall, SAP 30 may reduce SSIs compared with a placebo or with no SAP. Results suggested that intraoperative SAP may 31 lower SSI, while postoperative SAP did not show a statistically significant difference. 32 Conclusions. Findings have confirmed the role of SAP in reducing postoperative SSI across various surgeries 33 and do not support the use of antibiotics after surgery to prevent infections.