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congenital immunodeficiency

Pedro Pallangyo, Isaac Mawenya, Paulina Nicholaus, Henry Mayala, Amida Kalombola, Godwin Sharau, Naiz Majani, Mohamed Janabi
BACKGROUND: Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increases the risk of delivering a child with congenital complete heart block, however, less than a half of all women with such antibodies are symptomatic even after delivery. Mortality rate is highest during the neonatal period (45 %) and about two-thirds of all cases will require permanent pacing at some point in their lives...
October 19, 2016: Journal of Medical Case Reports
A G Borisov, A A Savchenko, D V Cherdantsev, D E Zdzitovetsky, O V Pervova, I V Kudryavtsev, V D Belenyuk, V A Shapkina
AIM: to assess types of immune response in patients with advanced suppurative peritonitis and course of disease. MATERIAL AND METHODS: We examined 79 patients with acute surgical abdominal diseases and injuries complicated by advanced suppurative peritonitis. Blood immunological parameters were estimated using flowing cytometry and enzyme immunoassay. RESULTS: It was concluded that functional parameters of immune system are very various in patients with advanced suppurative peritonitis...
2016: Khirurgiia
Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, Necil Kutukculer
Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies...
2016: Case Reports in Immunology
Leticia Yañez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, Maria Angélica Marinovic
: Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit...
September 27, 2016: Revista Chilena de Pediatría
Janelle Geist, Aikaterini Kontrogianni-Konstantopoulos
Myosin Binding Protein-C (MyBP-C) comprises a family of accessory proteins that includes the cardiac, slow skeletal, and fast skeletal isoforms. The three isoforms share structural and sequence homology, and localize at the C-zone of the sarcomeric A-band where they interact with thick and thin filaments to regulate the cycling of actomyosin crossbridges. The cardiac isoform, encoded by MYBPC3, has been extensively studied over the last several decades due to its high mutational rate in congenital hypertrophic and dilated cardiomyopathy...
2016: Frontiers in Physiology
William J Muller
Viral infections in the fetus or newborn often involve the central nervous system (CNS) and can lead to significant morbidity and mortality. Substantial progress has been made in identifying interventions decreasing adverse neurodevelopmental outcomes in this population. This review highlights progress in treatment of important viruses affecting the CNS in these susceptible hosts, focusing on herpes simplex (HSV), cytomegalovirus (CMV), human immunodeficiency virus (HIV), and enteroviruses. The observation that high-dose acyclovir improves mortality in neonatal HSV disease culminated decades of antiviral research for this disease...
September 27, 2016: Pediatric Research
Belal Armand, Kavous Solhjoo, Manoochehr Shabani-Kordshooli, Mohammad Hasan Davami, Mehdi Sadeghi
AIM: Toxoplasma gondii has a clinical and veterinary importance as it is known to cause congenital disease and abortion both in humans and livestock. Since the contaminated lamb is one of the sources of human infection, this study was performed to determine the prevalence of T. gondii in sheep in south of Iran. MATERIALS AND METHODS: Sera and tissue samples (diaphragm and heart) were collected from 370 sheep from slaughterhouse of Jahrom. The samples were taken from both sexes and from 6 to 60 months age...
August 2016: Veterinary World
Majid Naderi, Mehran Karimi, Maryam Sadat Hosseini, Es Hagh Moradi, Morteza Shamsizadeh, Akbar Dorgalaleh
Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with a prevalence of 1/3-5 million. Management of disease is performed by fresh frozen plasma (FFP), Cryoprecipitate (CP) or FXIII concentrate (Fibrogammin P®). Our objective was to assess safety and effectiveness of Fibrogammin P® in patients with FXIIID. For this purpose we designed this long-term follow up study on a large group of patients with FXIIID. This prospective study was conducted on 213 patients with FXIIID since 2009 to 2013...
2016: Iranian Journal of Pharmaceutical Research: IJPR
T V Latysheva, E A Latysheva, I A Martynova, G E Aminova
Primary immunodeficiencies (PIDs) are a group of congenital diseases of the immune system, which numbers more than 230 nosological entities associated with lost, decreased, or wrong function of its one or several components. Due to the common misconception that these are extremely rare diseases that occur only in children and lead to their death at an early age, PIDs are frequently ruled out by physicians of related specialties from the range of differential diagnosis. The most common forms of PIDs, such as humoral immunity defects, common variable immune deficiency, X-linked agammaglobulinemia, selective IgA deficiency, etc...
2016: Terapevticheskiĭ Arkhiv
Zhiye Li, Ruikai Ba, Zhifa Wang, Jianhua Wei, Yimin Zhao, Wei Wu
: : Craniofacial deformities caused by congenital defects or trauma remain challenges for clinicians, whereas current surgical interventions present limited therapeutic outcomes. Injection of bone marrow-derived mesenchymal stem cells (BMSCs) into the defect is highly desirable because such a procedure is microinvasive and grafts are more flexible to fill the lesions. However, preventing hypertrophic transition and morphological contraction remain significant challenges. We have developed an "all host derived" cell transplantation system composed of chondrocyte brick (CB)-enriched platelet-rich plasma (P) gel and BMSCs (B)...
September 14, 2016: Stem Cells Translational Medicine
Noriko Mitsuiki, Keita Tamanuki, Kenshi Sei, Jun Ito, Aiko Kishi, Kenji Kobayashi, Yoshiho Hatai, Masayuki Nagasawa
We report a neonate of severe cytomegalovirus (CMV) infection who presented vomiting, severe thrombocytopenia and thrombotic microangiopathy (TMA). He showed occasional vomiting at 3 weeks of age and visited us with systemic petechiae at 29 days old. Platelet was markedly decreased to 18,000/μL and fragmented red blood cells were increased in the peripheral blood. Intravenous ganciclovir (GCV) administration was started at 35 days old after detection of CMV in the peripheral blood. His normal values of T-cell receptor excision circles (TREC) and signal joint kappa-deleting recombination excision circles (sjKREC) excluded the possibility of severe immunodeficiency...
September 11, 2016: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
Forrest T Goodfellow, Blanka Tesla, Gregory Simchick, Qun Zhao, Thomas Hodge, Melinda A Brindley, Steven L Stice
The explosive spread of the Zika virus (ZIKV) through South and Central America has been linked to an increase in congenital birth defects, specifically microcephaly. Representative rodent models for investigating infections include direct central nervous system (CNS) injections late in pregnancy and transplacental transmission in immunodeficient mice. Microcephaly in humans may be the result of infection occurring early in pregnancy, therefore recapitulating that the human course of ZIKV infection should include normal embryo exposed to ZIKV during the first trimester...
October 17, 2016: Stem Cells and Development
Sudhakaran Prasanth, Velayudhan Cheruvallil Shaji, Chacko Lyla, Vasudevapanicker Jayalakshmi
Pneumococcal meningitis remains a life-threatening infection, with varied presentations. A 3 month-old-baby with pneumococcal meningitis presented with clusters of seizures evolving into refractory status epilepticus despite standard antibiotic and aggressive anticonvulsant therapy. Progressive illness despite antibiotic initially suggested possible antibiotic resistance and resulted in addition of another antibiotic. Nonresponse to standard treatment and previous history of abscess in the back of neck pointed to some underlying congenital immunodeficiency...
April 2016: Journal of Pediatric Neurosciences
Mark R Heckle, Raza Askari, Mohamed Morsy, Uzoma N Ibebuogu
Coronary artery ectasia also known as dilated coronopathy is a relatively rare finding that is most commonly associated with atherosclerosis. Several alternative reasons including congenital malformations and chronic inflammation have been identified as a cause of CAE. In this case, we discuss a 61-year-old male with postoperative chest pain who was found to have localized CAE in the absence of significant atherosclerosis. We also elucidate the recently proposed markers of chronic inflammation that might be associated with coronary artery ectasia...
July 2016: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
Glynis Frans, Leen Moens, Heidi Schaballie, Greet Wuyts, Adrian Liston, Koen Poesen, Ann Janssens, Gillian I Rice, Yanick J Crow, Isabelle Meyts, Xavier Bossuyt
We present a male patient with a clinical presentation of inflammatory bowel disease, dysmorphic features, bilateral congenital cataracts, and progressive B-cell immunodeficiency caused by homozygosity for the most N-terminal TRNT1 missense mutation described to date.
August 13, 2016: Journal of Allergy and Clinical Immunology
Xia-Fang Chen, Wei-Fan Wang, Yi-Dan Zhang, Wei Zhao, Jing Wu, Tong-Xin Chen
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene mutations and severity of clinical manifestations was also examined. Mutations were graded from mild to severe based on structural and functional prediction through bioinformatics analysis...
August 2016: Medicine (Baltimore)
Hikmet G Tanyildiz, Handan Dincaslan, Gulsan Yavuz, Emel Unal, Aydan Ikinciogulları, Figen Dogu, Nurdan Tacyildiz
The prevalence of lymphoma in primary immunodeficiency cases and autoimmune diseases, as well as on a background of immunodeficiency following organ transplants, is increasing. The lymphoma treatment success rate is known to be a low prognosis. Our study aimed to emphasize the low survival rates in immunodeficient vs. immunocompetent lymphoma patients and also to investigate the effect of rituximab in patients with ataxia telangiectasia and other immunodeficiencies. We summarized the clinical characteristics and treatment results of 17 cases with primary immunodeficiency that developed non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) retrospectively...
October 2016: Journal of Clinical Immunology
Khakhu Tshilidzi Mathivha, Sithembiso Velaphi
BACKGROUND: Although the clinical features of infants with congenital tuberculosis (TB) are well established, the features of infants exposed to TB in utero including those who are non-infected, are not well reported. TB-exposed infants are at risk of developing TB post-delivery, and chemoprophylaxis, usually isoniazid, is therefore recommended. Isoniazid/rifampicin combined is an alternative, but little is known about its effectiveness. OBJECTIVE: To determine the clinical features of infants exposed to TB in utero and the proportion who develop TB infection and disease despite chemoprophylaxis with a 3-month course of isoniazid/rifampicin...
July 26, 2016: Paediatrics and International Child Health
Jyoti Dekate, Runjan Chetty
Immunodeficient individuals are prone to develop a number of opportunistic infections and unique neoplasms. Epstein-Barr virus-associated smooth muscle tumor is an uncommon neoplasm associated with immunodeficiency. It has been described in patients infected with human immunodeficiency virus, in the posttransplant setting, and in those with congenital immunodeficiency. Different anatomic sites can be involved by Epstein-Barr virus-associated smooth muscle tumor, and even multiple locations can contain these unique lesions within the same patient...
July 2016: Archives of Pathology & Laboratory Medicine
Joseph Lykins, Kanix Wang, Kelsey Wheeler, Fatima Clouser, Ashtyn Dixon, Kamal El Bissati, Ying Zhou, Christopher Lyttle, Andrey Rzhetsky, Rima McLeod
BACKGROUND: Toxoplasma gondii infection causes substantial morbidity and mortality in the United States, and infects approximately one-third of persons globally. Clinical manifestations vary. Seropositivity is associated with neurologic diseases and malignancies. There are few objective data concerning US incidence and distribution of toxoplasmosis. METHODS: Truven Health MarketScan Database and International Classification of Diseases, Ninth Revision (ICD-9) codes, including treatment specific to toxoplasmosis, identified patients with this disease...
August 15, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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