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Case Reports in Immunology

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https://www.readbyqxmd.com/read/30186644/a-novel-stat3-gene-mutation-related-hyper-ige-syndrome-misdiagnosed-as-hidradenitis-suppurativa
#1
Pragya Shrestha, Geetika Sabharwal, Gisoo Ghaffari
Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/30159183/severe-allergic-bronchopulmonary-mycosis-and-long-term-follow-up
#2
Hossein Esmaeilzadeh, Sara Kashef, Hamid Reza Hatami, Soheila Alyasin, Hesamodin Nabavizadeh, Elmira Esmaeilzadeh
Allergic bronchopulmonary aspergillosis (ABPA) is the most common immunologic reaction following fungal allergen exposure in asthmatic patients. A less frequent syndrome in response to other fungal species like candida is allergic bronchopulmonary mycosis (ABPM). This reaction is mostly associated with asthma exacerbation, changes in Immunoglobulin E levels, and nonspecific findings in high resolution computed tomography (HRCT). This study presents a 9-year-old girl, a known case of childhood asthma, resolved 4 years ago as a novel case of ABPM due to Candida albicans manifested by severe emphysema, bronchiectasis, and pneumothorax which consequently required long-term treatment to get relieved...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/30140474/omalizumab-for-idiopathic-nonhistaminergic-angioedema-evidence-for-efficacy-in-2-patients
#3
Enrico Brunetta, Dana Shiffer, Marco Folci, Maria I S Achenza, Francesca Puggioni, Enrico Heffler, Raffaello Furlan, Giorgio W Canonica
Presently, there is inconclusive evidence regarding the most effective treatment for idiopathic nonhistaminergic acquired angioedema (InH-AAE). Omalizumab may, however, prove to be a promising option. This case report describes two patients who presented with recurrent angioedema attacks, which was refractory to antihistamine therapy. Hence, they were treated with 300 mg omalizumab, every 4 weeks, for a period of 6 months. Both patients had shown a rapid response to the treatment and achieved complete resolution of symptoms without further AE attacks throughout the entire duration of the treatment period...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/30009063/efficacy-of-nivolumab-in-a-patient-with-metastatic-renal-cell-carcinoma-and-end-stage-renal-disease-on-dialysis-case-report-and-literature-review
#4
Jawaher Ansari, Muhammad Ali, Ashraf Farrag, Arwa M Ali, Abdulaziz Alhamad
Treatment of patients with metastatic renal cell carcinoma (mRCC) and end-stage renal disease (ESRD) on dialysis poses a therapeutic challenge, particularly as this patient group was excluded from the pivotal clinical trials. In addition, there is uncertainty regarding drug dosing/pharmacokinetics, lack of safety and efficacy data, and potential for increased toxicity when using targeted therapy or immunotherapy for the management of patients with mRCC on dialysis. Nivolumab, an anti-programmed death-1 immune checkpoint inhibitor antibody, is indicated for the treatment of patients with mRCC who have received prior antiangiogenic therapy...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29977631/ebv-infection-in-xlp1-manifested-solely-by-behavioral-aggression-and-effective-treatment-using-rituximab
#5
Michelle M Korah-Sedgwick, Luke A Wall
Patients with X-linked lymphoproliferative disease 1 (XLP1) are exquisitely susceptible to Epstein-Barr virus (EBV), with the first EBV infection often resulting in rapid death. In a manner not previously described, a 5-year-old patient with XLP1 presented solely with behavioral aggression, with no laboratory evidence of organ dysfunction or inflammation. Although EBV-IgM was negative, PCR confirmed the presence of EBV in both the blood and cerebrospinal fluid. MRI of the brain showed frontal lobe foci. After failure to eradicate his viremia with ganciclovir, rituximab was administered...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29888014/runaway-train-a-leaky-radiosensitive-scid-with-skin-lesions-and-multiple-lymphomas
#6
Børre Fevang, Unn Merete Fagerli, Hanne Sorte, Harald Aarset, Håkon Hov, Marit Langmyr, Thomas Morten Keil, Ellen Bjørge, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl
The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and a loss of expression or function will lead to a radiosensitive severe combined immunodeficiency with no functional T-cells or B-cells (T-B-SCID). Hypomorphic mutations in the Artemis gene can lead to a functional, but reduced, T-cell and B-cell repertoire with a more indolent clinical course called "leaky" SCID. Here, we present the case of a young man who had increasingly aggressive lymphoproliferative skin lesions from 2 years of age which developed into multiple EBV+ B-cell lymphomas, where a hypomorphic mutation in the Artemis gene was found in a diagnostic race against time using whole exome sequencing...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29796327/effective-immunotherapy-in-bone-marrow-metastatic-melanoma-presenting-with-disseminated-intravascular-coagulopathy
#7
Bolanle Gbadamosi, Daniel Ezekwudo, Bhadresh Nayak, Zhou Yu, Sandra Gjorgova-Gjeorgjievski, Ming Xie, Colvin Robert, Ishmael Jaiyesimi, Marianne Huben
Malignant melanoma is responsible for the majority of skin cancer deaths and is increasing in prevalence. Bone marrow (BM) involvement by melanoma is rare in the absence of widespread visceral disease. Here, we report the case of a 30-year-old female who presented to the hospital with back pain, low-grade fever, and easy bruising. She was found to be bicytopenic and in disseminated intravascular coagulopathy (DIC). Surprisingly, BM biopsy showed extensive involvement by metastatic malignant melanoma in the absence of visceral or brain metastasis...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29666725/elevated-serum-igg4-levels-in-a-young-patient-with-polyserositis-and-necator-americanus-infection
#8
Giuseppe D Sanna, Roberto Manetti, Valentina de Filippo, Sergio Babudieri
IgG4-related disease is a fibroinflammatory systemic condition characterized by tumefactive lesions, lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, and elevated serum IgG4 concentrations. It has been described in virtually every organ system. Autoimmunity and infectious agents are potential immunologic triggers in IgG4-related disease. Herein, we describe a peculiar case of effusive-constrictive pericarditis in an 18-year-old boy with polyserositis and concomitant Necator americanus infection...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29666724/in-vitro-fertilization-using-luteinizing-hormone-releasing-hormone-injections-resulted-in-healthy-triplets-without-increased-attack-rates-in-a-hereditary-angioedema-case
#9
Ceyda Tunakan Dalgıç, Fatma Düşünür Günsen, Gökten Bulut, Emine Nihal Mete Gökmen, Aytül Zerrin Sin
Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, and breastfeeding period. In order to increase pregnancy rates, physicians use fertilization therapies increasing endogen levels of estrogens. Therefore, these techniques can provoke an increase in the number and severity of edema attacks in C1-INH-HAE...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29259832/gain-of-function-mutations-in-stat1-a-recently-defined-cause-for-chronic-mucocutaneous-candidiasis-disease-mimicking-combined-immunodeficiencies
#10
Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver...
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28785494/concomitant-transverse-myelitis-and-acute-axonal-sensory-motor-neuropathy-in-an-elderly-patient
#11
L M Oliveira, R G Cury, L H Castro, R Nitrini
Diagnosing concomitant transverse myelitis (TM) and Guillain-Barré syndrome (GBS) can be challenging. We report a case of an elderly patient presenting with acute sensory and motor disturbances in the four limbs, associated with urinary retention, ophthalmoparesis, facial weakness, and dysarthria. Electrodiagnostic studies were consistent with acute motor sensory axonal neuropathy (AMSAN), and imaging showed a longitudinally extensive tumefactive contrast-enhancing hyperintense spinal cord lesion extending from T6 to the cone...
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28690907/corrigendum-to-docetaxel-induced-systemic-sclerosis-with-internal-organ-involvement-masquerading-as-congestive-heart-failure
#12
Bumsoo Park, Raghavendra C Vemulapalli, Amit Gupta, Maria E Shreve, Della A Rees
[This corrects the article DOI: 10.1155/2017/4249157.].
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28396809/beer-cider-and-wine-allergy
#13
Rhea A Bansal, Susan Tadros, Amolak S Bansal
Background . Allergy to beer is often due to specific proteins in barley and sometimes to lipid transfer protein. Allergy to wine is frequently due to a sensitivity to grape proteins. We present a rare case of allergy to beer, wine, and cider resulting from IgE reactivity to yeasts and moulds which also explained the patient's additional sensitivity to yeast extracts and blue cheese. Case Presentation . The patient's symptoms included throat and facial itching accompanied by mild wheeze and severe urticaria...
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28265474/docetaxel-induced-systemic-sclerosis-with-internal-organ-involvement-masquerading-as-congestive-heart-failure
#14
Bumsoo Park, Raghavendra C Vemulapalli, Amit Gupta, Maria E Shreve, Della A Rees
Systemic sclerosis, or scleroderma, is a complex medical disorder characterized by limited or diffuse skin thickening with frequent involvement of internal organs such as lungs, gastrointestinal tract, or kidneys. Docetaxel is a chemotherapeutic agent which has been associated with cutaneous side effects. An uncommon cutaneous side effect of docetaxel is scleroderma-like skin changes that extend from limited to diffuse cutaneous systemic sclerosis. Several case reports have been published regarding the association of docetaxel and systemic sclerosis...
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28168067/necrotizing-liver-granuloma-abscess-and-constrictive-aspergillosis-pericarditis-with-central-nervous-system-involvement-different-remarkable-phenotypes-in-different-chronic-granulomatous-disease-genotypes
#15
Sanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, Halil Bozkaya, Mehmet Fatih Ayik, Yasemin Ozdemir Sahan, Mehmet Arda Kilinc, Zafer Dokumcu, Cenk Eraslan, Emre Divarci, Hudaver Alper, Necil Kutukculer
Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus . In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement...
2017: Case Reports in Immunology
https://www.readbyqxmd.com/read/28025628/pure-cold-induced-cholinergic-urticaria-in-a-pediatric-patient
#16
Tina Abraham, David P McGarry, John Frith, Jason Casselman, Haig Tcheurekdjian, Robert Hostoffer
Cold urticaria and cholinergic urticaria are two distinct entities. The presentation of exclusive cold-induced cholinergic urticaria is very rare. The patient described herein had experienced urticaria in the exclusive setting of exercising in a cold environment. Urticarial testing including laboratory and in-office testing was all negative. The patient has prevented urticaria symptoms with oral antihistamine therapy. Pure cold-induced cholinergic urticaria is rarely described in literature. This form of urticaria has yet to be described in a pediatric patient...
2016: Case Reports in Immunology
https://www.readbyqxmd.com/read/28003919/successful-pregnancy-outcome-in-women-with-recurrent-ivf-failure-and-anti-hcg-autoimmunity-a-report-of-three-cases
#17
Valeria Muller, Ksenia Ob'edkova, Inna Krikheli, Igor Kogan, Irina Fedorova, Elena Lesik, Evgenia Komarova, Alexandr Gzgzyan
We report three cases of effective management of infertility in women with a history of repeated unsuccessful IVF attempts, who have developed antibodies to hCG. A novel approach to conservative treatment of immunologic reproductive failure, suggested for selected patients, included membrane plasmapheresis, combined prednisolone, and intravenous immunoglobulin therapy. No adverse side effects were observed; all cases resulted in pregnancy and subsequent life births. In order to be given an adequate efficient treatment, women with recurrent implantation failure should be suspected for autoimmune factor of infertility and its possible association with anti-hCG autoimmunity...
2016: Case Reports in Immunology
https://www.readbyqxmd.com/read/27974980/differential-impairment-of-interferon-%C3%AE-responses-in-two-cases-of-pulmonary-nontuberculous-mycobacterial-disease
#18
William Rae, Yifang Gao, Efrem Eren, Rainer Döffinger, Ben Marshall, Anthony P Williams
Nontuberculous mycobacteria (NTMs) are weakly virulent intracellular pathogens that are common in food and water supplies. The persistent culture of these organisms in the setting of clinical infection warrants investigation of immune function. In cases of isolated pulmonary NTM (PNTM) disease, underlying immune defects have not been clearly identified. We present two patients with isolated PNTM infection who demonstrated differentially impaired IFN-γ production across a range of stimuli. These cases show that cellular IFN-γ responses may be defective in a proportion of patient suffering PNTM disease and that when assessing responses, the stimulant used in the testing is important to delineate defective cell populations...
2016: Case Reports in Immunology
https://www.readbyqxmd.com/read/27872771/tranexamic-acid-an-exceedingly-rare-cause-of-anaphylaxis-during-anaesthesia
#19
R A Bansal, A Nicholas, A S Bansal
Tranexamic acid (TXA) allergy is extremely rare. An 80-year-old woman without prior exposure to TXA underwent elective knee replacement. Shortly after induction of anaesthesia and intravenous TXA, she developed hypotension, tachycardia, and facial erythema accompanied by a raised serum tryptase. Later, skin prick and intradermal testing confirmed positive responses to TXA in high dilution and with negative results to the other drugs used. While neuromuscular blocking agents, opiates, and antibiotics remain the most frequent cause of anaphylaxis during anaesthesia, allergy to TXA should always be borne in mind and requires skin testing for confirmation as there are presently no blood tests available...
2016: Case Reports in Immunology
https://www.readbyqxmd.com/read/27843658/giant-condyloma-acuminata-in-indonesian-females-with-sle-under-immunosuppressant-and-steroid-therapy
#20
Andhika Rachman, Nabila Hasan
Introduction. Immunosuppressant and steroid therapy in systemic lupus erythematosus (SLE) increases the risk of human papillomavirus (HPV) infections, one of which is giant condyloma acuminata (GCA). To our knowledge, there is no report evaluating the correlation between immunosuppressive and steroid therapy in patients with SLE and the prevalence of GCA. Case Report. A 42-year-old female was diagnosed with SLE a year ago and has been treated with steroids and immunosuppressive drugs. In the last few months she presented GCA involving the genital area recurring almost every two months...
2016: Case Reports in Immunology
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