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congenital immunodeficiency

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https://www.readbyqxmd.com/read/28491877/nodular-regenerative-hyperplasia-a-case-of-rare-prognosis
#1
Mindy Lee, Manhal Izzy, Ashwin Akki, Kathryn Tanaka, Harmit Kalia
Introduction: Nodular regenerative hyperplasia (NRH) is a known etiology of noncirrhotic portal hypertension. Cases of biopsy-proven NRH in human immunodeficiency virus (HIV)-positive patients have been described. While these patients often have normal synthetic liver function, several reports described disease progression to liver failure. Case: We here present a 26-year-old woman with history of congenital HIV on antiretroviral therapy complicated by Pneumocystis carinii pneumonia at age 14. CD4 counts have been >300 with undetectable viral load...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28488400/kaposi-sarcoma-oral-malformations-mitral-dysplasia-and-scoliosis-associated-with-7q34-q36-3-heterozygous-terminal-deletion
#2
Carolyn C Jackson, Alain Lefèvre-Utile, Anne Guimier, Valérie Malan, Julie Bruneau, Antoine Gessain, Olivier Cassar, Jeanne Amiel, Aurélie Cobat, Vimel Rattina, Laurent Abel, Jean-Laurent Casanova, Stéphane Blanche
Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar scoliosis, and mild mitral valve dysplasia...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28480529/acne-conglobata-in-a-long-term-survivor-with-trisomy-13-accompanied-by-selective-igm-deficiency
#3
Chiyoko N Inoue, Yoshiko Tanaka, Nobuko Tabata
Trisomy 13 (T13) is a congenital chromosomal disorder that is usually fatal within 2 years of birth, and only a few patients have been reported to reach adolescence. Here, we report a male long-term survivor of T13, currently 15 years of age, with a several-year history of extensive acne conglobata (AC) with abscesses on the face and neck. Methicillin-resistant Staphylococcus aureus was consistently isolated from the pustular lesions. Serum IgM levels were extremely low at 10 mg/dl. There were no abnormalities in neutrophil and total B cell number, or in serum IgA and IgG levels...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28480154/congenital-tracheobronchomegaly-mounier-kuhn-syndrome-in-a-woman-with-human-immunodeficiency-virus-a-case-report
#4
Amanda Fletcher, Justin Stowell, Socrates Jamoulis
Congenital tracheobronchomegaly (Mounier-Kuhn Syndrome, MKS) is a rare idiopathic disorder characterized by dilation of the central airways, including the trachea and first through fourth order bronchi. MKS disproportionately affects men and results in chronic respiratory tract infections. The diagnosis is made through the synthesis of clinical and radiological data. Here we report a unique case of MKS in a patient with human immunodeficiency virus (HIV) infection. A 45-year-old African American woman with a past medical history of HIV, tobacco and recreational drug abuse, chronic obstructive pulmonary disease, sleep apnea, and a 15-year history of recurrent respiratory infections presented with dyspnea, wheezing, a productive cough, increased yellow-green sputum production, and subjective fevers...
April 4, 2017: Curēus
https://www.readbyqxmd.com/read/28466095/survival-of-the-fetus-fetal-b-and-t-cell-receptor-repertoire-development
#5
REVIEW
Erez Rechavi, Raz Somech
A mature and diverse T and B cell receptor repertoire is a prerequisite for immunocompetence. In light of its increased susceptibility to infection, the human fetus has long been considered deficient in this regard. However, data accumulated since the 1990s and in earnest in the past couple of years paints a more complicated picture. As we describe in this review, mechanisms responsible for generating a diverse receptor repertoire, such as somatic recombination, class switch recombination, and somatic hypermutation, are all operational to surprising extents in the growing fetus...
May 2, 2017: Seminars in Immunopathology
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#6
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28418539/ophthalmic-manifestations-of-congenital-zika-syndrome-in-colombia-and-venezuela
#7
Juan B Yepez, Felipe A Murati, Michele Pettito, Carlos F Peñaranda, Jazmin de Yepez, Gladys Maestre, J Fernando Arevalo
Importance: The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed...
May 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28414192/congenital-erythroderma-should-be-considered-as-an-urgent-warning-sign-of-immunodeficiency-a-case-of-omenn-syndrome
#8
Edwin Cuperus, Joris M VAN Montfrans, Mariëlle E VAN Gijn, Maarten T Bastiaens, Mirjam Ma DE Willigen, Roos J Leguit, Lucas Pjf Frijns, Carla Afm Brijnzeel-Koomen, Ingrid Mb RusseL, Suzanne Gma Pasmans
No abstract text is available yet for this article.
April 17, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28395106/primary-congenital-immunodeficiency-2015-sh-eahp-workshop-report-part-5
#9
Dita Gratzinger, Elaine S Jaffe, Amy Chadburn, John K C Chan, Daphne de Jong, John R Goodlad, Jonathan Said, Yasodha Natkunam
Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis...
February 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28371864/a-multicentre-study-of-patients-with-timothy-syndrome
#10
Mark A Walsh, Christian Turner, Katherine W Timothy, Neil Seller, Dominic L Hares, Andrew F James, Jules C Hancox, Orhan Uzun, Dean Boyce, Alan G Stuart, Paul Brennan, Caroline Sarton, Karen McGuire, Ruth A Newbury-Ecob, Karen Mcleod
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study...
March 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28337699/lung-ultrasound-is-comparable-with-chest-roentgenogram-for-diagnosis-of-community-acquired-pneumonia-in-hospitalised-children
#11
Krishna Kumar Yadav, Shally Awasthi, Anit Parihar
OBJECTIVE: To evaluate the accuracy of lung ultrasound (LUS) in comparison to chest roentgenogram (CXR) in hospitalised children with community-acquired pneumonia (CAP). METHODS: This study was a hospital based prospective observational study, conducted between January 2014 and December 2014. Hospitalised children aged 2 to 59 mo with community-acquired pneumonia were included in the study. The informed written consent was taken from parents (or legal guardian) before recruitment...
March 24, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28331055/reticular-dysgenesis-international-survey-on-clinical-presentation-transplantation-and-outcome
#12
Manfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, Luigi D Notarangelo, Fulvio Porta, Andrew R Gennery, Mary Slatter, Morton J Cowan, Polina Stepensky, Hamoud Al-Mousa, Daifulah Al-Zahrani, Sung-Yun Pai, Waleed Al Herz, Hubert B Gaspar, Paul Veys, Koichi Oshima, Kohsuke Imai, Hiromasa Yabe, Lenora M Noroski, Nico M Wulffraat, Karl-Walter Sykora, Pere Soler-Palacin, Hideki Muramatsu, Mariam Al Hilali, Despina Moshous, Klaus-Michael Debatin, Catharina Schuetz, Eva-Maria Jacobsen, Ansgar S Schulz, Klaus Schwarz, Alain Fischer, Wilhelm Friedrich, Marina Cavazzana
Reticular Dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis and sensorineural deafness. Mutations in the gene encoding Adenylate Kinase 2 (AK2) were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics and outcome of HSCT were collected from centers in Europe, Asia and North America for a total of 32 patients born between 1982 and 2011...
March 22, 2017: Blood
https://www.readbyqxmd.com/read/28298291/plasmablast-response-to-primary-rhesus-cytomegalovirus-cmv-infection-in-a-monkey-model-of-congenital-cmv-transmission
#13
Qihua Fan, Cody S Nelson, Kristy M Bialas, Flavia Chiuppesi, Joshua Amos, Thaddeus C Gurley, Dawn Jones Marshall, Joshua Eudailey, Holly Heimsath, Jonathon Himes, Ashlesha Deshpande, Mark R Walter, Felix Wussow, Don J Diamond, Peter A Barry, M Anthony Moody, Amitinder Kaur, Sallie R Permar
Human cytomegalovirus (HCMV) is the most common congenital infection worldwide and the leading infectious cause of neurologic deficits and hearing loss in newborns. Development of a maternal HCMV vaccine to prevent vertical virus transmission is a high priority, yet protective maternal immune responses following acute infection are poorly understood. To characterize the maternal humoral immune response to primary CMV infection, we investigated the plasmablast and early antibody repertoire using a nonhuman primate model with two acutely rhesus CMV (RhCMV)-infected animals-a CD4(+) T cell-depleted dam that experienced fetal loss shortly after vertical RhCMV transmission and an immunocompetent dam that did not transmit RhCMV to her infant...
May 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/28288525/acquired-immune-deficiency-syndrome-associated-kaposi-sarcoma-in-a-child-presenting-as-a-solitary-plantar-hyperkeratotic-plaque
#14
Pierre-Olivier Grenier, Isabelle Auger
BACKGROUND AND OBJECTIVE: Acquired immune deficiency syndrome (AIDS)-associated Kaposi sarcoma (KS) among the pediatric population is a rare entity in North America and Europe, and its cutaneous manifestations are not well defined in the literature. The investigators report the case of a boy with an AIDS-associated KS presenting as an infiltrated hyperkeratotic plaque of the plantar arch. METHODS AND RESULTS: An 11-year-old African boy with congenital human immunodeficiency virus (HIV) had a skin biopsy of the plantar lesion that was consistent with a KS...
March 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#15
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María 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. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28197808/age-related-alterations-of-the-cd19-complex-and-memory-b-cells-in-children-with-down-syndrome
#16
Ayse Nazli Seckin, Hulya Ozdemir, Ayca Ceylan, Hasibe Artac
Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Twenty-nine of the DS group had congenital cardiac disease...
February 14, 2017: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/28191761/angiogenic-potential-of-human-bone-marrow-derived-mesenchymal-stem-cells-in-chondrocyte-brick-enriched-constructs-promoted-stable-regeneration-of-craniofacial-cartilage
#17
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)...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28184323/congenital-tuberculosis-a-newborn-case-report-with-rare-manifestation
#18
Hadi Khorsand Zak, Shahin Mafinezhad, Ali Haghbin
INTRODUCTION: Congenital tuberculosis is an infrequently encountered condition and only 300 cases were reported in the literature till 1989. There are no specific signs and symptoms pathognomonic for congenital TB, and the devastating consequences in the absence of early therapy signify the importance of early diagnosis and treatment during the neonatal period. CASE PRESENTATION: In this paper we report on a case of congenital TB in a newborn who was admitted to our clinic with seizures and intraventricular hemorrhage (IVH) due to TB meningitis...
October 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28121955/childhood-recurrent-pneumonia-caused-by-endobronchial-sutures-a-case-report
#19
Yiheng Zan, Hanmin Liu, Lin Zhong, Li Qiu, Qingfen Tao, Lina Chen
BACKGROUND: Recurrent pneumonia is defined as more than two episodes of pneumonia in one year or three or more episodes anytime in life. Common clinical scenarios leading to recurrent pneumonia include anatomical abnormalities of respiratory tract, immunodeficiency, congenital heart diseases, primary ciliary dyskinesia, etc. CASE REPORT: A school-aged girl suffered from 1-2 episodes of pneumonia each year after trachea connection and lung repair operation resulted from an accident of car crash...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28089909/immunosuppression-via-loss-of-il2r%C3%AE-enhances-long-term-functional-integration-of-hesc-derived-photoreceptors-in-the-mouse-retina
#20
Jie Zhu, Helen Cifuentes, Joseph Reynolds, Deepak A Lamba
Loss of photoreceptors is a common endpoint in degenerative retinal diseases. Human pluripotent stem cells provide a potential source for photoreceptor replacement, but, even in mouse models, the efficiency and efficacy of transplantation-based repair remains poor. In this study, we examined the degree to which immune rejection contributes to these disappointing outcomes using an immunodeficient IL2 receptor γ (IL2rγ)-null mouse model. Our results show that prevention of cell rejection in the normal and degenerating retinal environment significantly improves long-term survival and integration of hESC-derived donor retinal cells...
December 29, 2016: Cell Stem Cell
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