Case Reports in Immunology The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Concomitant Transverse Myelitis and Acute Axonal Sensory-Motor Neuropathy in an Elderly Patient Thu, 13 Jul 2017 06:31:43 +0000 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. Concomitant AMSAN and TM have not been previously reported in the elderly. Comorbid TM and other GBS variants have been previously reported. Intravenous methylprednisolone, plasma exchange, cyclophosphamide, or combination therapies are usually used, although there are no randomized controlled studies regarding treatment choices. L. M. Oliveira, R. G. Cury, L. H. Castro, and R. Nitrini Copyright © 2017 L. M. Oliveira et al. All rights reserved. Corrigendum to “Docetaxel-Induced Systemic Sclerosis with Internal Organ Involvement Masquerading as Congestive Heart Failure” Thu, 29 Jun 2017 00:00:00 +0000 Bumsoo Park, Raghavendra C. Vemulapalli, Amit Gupta, Maria E. Shreve, and Della A. Rees Copyright © 2017 Bumsoo Park et al. All rights reserved. Beer, Cider, and Wine Allergy Wed, 15 Mar 2017 07:27:41 +0000 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. Diagnosis of allergy to yeast was confirmed by specific IgE testing as well as that to relevant foods and beverages. The patient’s ongoing management included advice to avoid beer, wine, and other food groups containing specific yeasts, in addition to carrying a short acting nonsedating antihistamine as well as an adrenaline autoinjector. Conclusions. Cases of yeast allergy are extremely rare in medical literature but may be underrecognised and should be considered in patients presenting with reactions to alcoholic beverages and other yeast-containing products. Rhea A. Bansal, Susan Tadros, and Amolak S. Bansal Copyright © 2017 Rhea A. Bansal et al. All rights reserved. Docetaxel-Induced Systemic Sclerosis with Internal Organ Involvement Masquerading as Congestive Heart Failure Mon, 06 Feb 2017 00:00:00 +0000 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. However, those reports demonstrated the association between docetaxel and scleroderma-like skin changes without internal organ involvement. Here, we report a case of systemic sclerosis with pulmonary arterial hypertension and a microangiopathic kidney involvement induced by docetaxel chemotherapy. After an exhaustive literature review, this could be the first case of docetaxel-induced systemic sclerosis involving internal organs. Bumsoo Park, Raghavendra C. Vemulapalli, Amit Gupta, Maria E. Shreve, and Della A. Rees Copyright © 2017 Bumsoo Park et al. All rights reserved. Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes Tue, 10 Jan 2017 13:06:27 +0000 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 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 protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD. 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, and Necil Kutukculer Copyright © 2017 Sanem Eren Akarcan et al. All rights reserved. Pure Cold-Induced Cholinergic Urticaria in a Pediatric Patient Tue, 29 Nov 2016 08:10:20 +0000 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. Tina Abraham, David P. McGarry, John Frith, Jason Casselman, Haig Tcheurekdjian, and Robert Hostoffer Copyright © 2016 Tina Abraham et al. All rights reserved. Successful Pregnancy Outcome in Women with Recurrent IVF Failure and Anti-hCG Autoimmunity: A Report of Three Cases Thu, 24 Nov 2016 16:24:08 +0000 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. Valeria Muller, Ksenia Ob’edkova, Inna Krikheli, Igor Kogan, Irina Fedorova, Elena Lesik, Evgenia Komarova, and Alexandr Gzgzyan Copyright © 2016 Valeria Muller et al. All rights reserved. Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease Wed, 16 Nov 2016 09:33:48 +0000 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. Impaired IFN-γ responses to IL-12 + BCG seem to be a poor prognostic indicator in PNTM disease and in these cases were not improved by adjuvant IFN-γ. William Rae, Yifang Gao, Efrem Eren, Rainer Döffinger, Ben Marshall, and Anthony P. Williams Copyright © 2016 William Rae et al. All rights reserved. Tranexamic Acid: An Exceedingly Rare Cause of Anaphylaxis during Anaesthesia Mon, 31 Oct 2016 12:16:39 +0000 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. R. A. Bansal, A. Nicholas, and A. S. Bansal Copyright © 2016 R. A. Bansal et al. All rights reserved. Giant Condyloma Acuminata in Indonesian Females with SLE under Immunosuppressant and Steroid Therapy Mon, 24 Oct 2016 13:34:27 +0000 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. Type 6 and 11 HPVs were identified in vulva, vagina, and cervix. Methods. PubMed, EBSCO, and Cochrane Library literature were searched from inception to July 2015. Authors screened all titles and abstracts and read full text article, and two case-control studies were found relevant. Results. SLE patients in both studies were under immunosuppressive and steroid therapy. Condyloma acuminata was diagnosed at 108 months (latest) and 1 month (earliest) after SLE. Type 6, 11, 16, 42, and oncogenic group of HPV were identified. Conclusions. GCA is a type of HPV infection seldom observed in SLE patients. Therefore, their correlation is still unclear. Period of time since SLE was diagnosed and GCA varies from months to years. A more thorough physical and laboratory examination leading to HPV and other infectious disease is recommended. Andhika Rachman and Nabila Hasan Copyright © 2016 Andhika Rachman and Nabila Hasan. All rights reserved. Successful Use of Tocilizumab in a Patient with Coexisting Rheumatoid Arthritis and Ulcerative Colitis Wed, 12 Oct 2016 12:53:05 +0000 Tocilizumab is an interleukin-6 receptor inhibitor licensed for moderate to severe rheumatoid arthritis (RA). We report a case of Tocilizumab monotherapy for severe active RA in a patient with coexisting ulcerative colitis (UC). The patient was intolerant to multiple disease-modifying drugs, so Tocilizumab monotherapy was commenced. We found clinical improvement in both RA and UC. There was no major adverse event after 2 years. Manufacturer advised caution in using Tocilizumab in patient with gastrointestinal ulceration due to an increased risk of bowel perforation. However, alternative treatments such as glucocorticoid and nonsteroidal anti-inflammatory drugs may carry a higher bowel perforation risk. The presence of gastrointestinal ulceration therefore should not constitute an absolute contraindication for Tocilizumab therapy. Future studies of registry data will inform clinician of the Tocilizumab-related risk of gastrointestinal toxicity in “real-life” settings. Contrary to previous case report, we found Tocilizumab therapy to have a positive effect on UC. Laboratory studies supported a role for interleukin-6 in the pathophysiology of UC. Further clinical trial to evaluate the therapeutic role of Tocilizumab in UC would be warranted. Matthew Chak Hin Szeto, Metin Devrim Yalçın, Abdul Khan, and Andrzej Piotrowicz Copyright © 2016 Matthew Chak Hin Szeto et al. All rights reserved. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases Tue, 06 Sep 2016 17:35:29 +0000 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. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis. Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, and Necil Kutukculer Copyright © 2016 Neslihan Edeer Karaca et al. All rights reserved. Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome Mon, 08 Aug 2016 13:08:56 +0000 The term disappearing HDL syndrome refers to development of severe high density lipoprotein cholesterol (HDL-C) deficiency in noncritically ill patients with previously normal HDL-C and triglyceride levels. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of the immune system due to an inability to regulate lymphocyte homeostasis resulting in lymphadenopathy and hepatosplenomegaly. We describe a 17-year-old boy who was evaluated in the lipid clinic for history of undetectable or low HDL-C and low density lipoprotein cholesterol (LDL-C) levels. Past medical history was significant for ALPS IA diagnosed at 10 years of age when he presented with bilateral cervical adenopathy. He was known to have a missense mutation in one allele of the FAS protein extracellular domain consistent with ALPS type 1A. HDL-C and LDL-C levels had been undetectable on multiple occasions, though lipids had not been measured prior to the diagnosis of ALPS. He had been receiving sirolimus for immunosuppression. The HDL-C and LDL-C levels correlated with disease activity and improved to normal levels during times when the activity of ALPS was controlled. This case highlights the importance of considering ALPS as a cause of low HDL-C and LDL-C levels in a child with evidence of lymphoproliferation. Swetha Sriram, Avni Y. Joshi, Vilmarie Rodriguez, and Seema Kumar Copyright © 2016 Swetha Sriram et al. All rights reserved. Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta Tue, 14 Jun 2016 11:26:22 +0000 Severe combined immunodeficiency (SCID), a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T-) lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs) by real time quantitative PCR (RT-qPCR). This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and a massive perivillous fibrin deposition (MPFD) of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening. Stefan Kostadinov, Karen A. Robbins, and Anthony Hayward Copyright © 2016 Stefan Kostadinov et al. All rights reserved. Mycetoma Caused by Acremonium Species in a Patient with Chronic Granulomatous Disease Sun, 28 Feb 2016 09:44:26 +0000 Patients with chronic granulomatous disease are predisposed to fungal infections and are therefore routinely prescribed antifungal prophylaxis. We report a case where acremonium was responsible for causing a cutaneous infection (mycetoma) despite antifungal prophylaxis. Treatment with voriconazole was initiated and the infection gradually resolved. This case highlights the need for careful clinical follow-up and thorough investigation of patients who have a neutrophil immunodeficiency. Richard Antrobus, Gabriel Wong, Julie Jones, and Aarnoud Huissoon Copyright © 2016 Richard Antrobus et al. All rights reserved. Successful Use of Plasma Exchange in the Treatment of Corticosteroid-Refractory Eosinophilic Granulomatosis with Polyangiitis Associated with Gastrointestinal Manifestations Wed, 17 Feb 2016 09:01:25 +0000 We describe the case of a 33-year-old woman having corticosteroid-refractory eosinophilic granulomatosis with polyangiitis (EGPA) who presented with abdominal pain and responded dramatically to plasma exchange. Eosinophilia, asthma history, neuropathy, pulmonary infiltrates, and paranasal sinus abnormalities confirmed the diagnosis of EGPA. Treatment was initiated with 1 g/day of methylprednisolone pulse therapy for 3 days followed by 60 mg/day of intravenous prednisolone without relieving abdominal pain. Then, plasma exchange was performed thrice. Abdominal pain disappeared after the first plasma exchange. Indication of plasma exchange for EGPA remains controversial; however, it may represent a valid option in cases with gastrointestinal involvement. Kohei Tsujimoto, Masato Yagita, Masashi Taniguchi, and Masaaki Fujita Copyright © 2016 Kohei Tsujimoto et al. All rights reserved. Refractory Immunological Thrombocytopenia Purpura and Splenectomy in Pregnancy Mon, 21 Dec 2015 11:23:38 +0000 Thrombocytopenia is defined as a platelet count of less than 100,000 platelets per microlitre (mcL). Thrombocytopenia develops in approximately 6-7% of women during pregnancy and at least 3% of these cases are caused by immunological platelet destruction. Herein, we present a pregnant woman who develops at the first trimester autoimmune thrombocytopenia purpura associated with positive antiphospholipid antibodies. The disease was refractory to pharmacological treatments but had a favourable response to splenectomy. The patient carried the pregnancy to term without complication and gave birth to a healthy baby girl. Santiago Bernal-Macías, Laura-Marcela Fino-Velásquez, Felipe E. Vargas-Barato, Lucio Guerra-Galue, Benjamín Reyes-Beltrán, and Adriana Rojas-Villarraga Copyright © 2015 Santiago Bernal-Macías et al. All rights reserved. Systemic Sarcoidosis Presenting with Headache and Stroke-Like Episodes Tue, 29 Sep 2015 06:27:02 +0000 Sarcoidosis is a multisystem granulomatous disorder. Neurological manifestations as a presenting symptom are relatively rare. A 26-year-old male presented with a five-week history of headache suggestive of raised intracranial pressure. He subsequently developed transient episodes of mild right-sided hemiparesis and numbness. Magnetic resonance imaging (MRI) of brain revealed widespread inflammatory white matter lesions, an ischaemic focus in the left corona radiata, and widespread microhaemorrhages consistent with a more diffuse vasculopathy. Serum angiotensin-converting enzyme (ACE) level was normal. Lumbar puncture revealed an elevated opening pressure (36 cmH2O) and inflammatory cerebrospinal fluid (CSF). Computerised tomography (CT) of chest, abdomen, and pelvis revealed widespread lymphadenopathy and biopsy of axillary lymph nodes revealed the presence of noncaseating granulomata in keeping with systemic sarcoidosis. The patient responded well to corticosteroids. This case highlights the importance of considering sarcoidosis to be a rare but potentially treatable cause of stroke in younger patients. J. Campbell, R. Kee, D. Bhattacharya, P. Flynn, M. McCarron, and A. Fulton Copyright © 2015 J. Campbell et al. All rights reserved. Nocardia Brain Abscess and CD4+ Lymphocytopenia in a Previously Healthy Individual Thu, 10 Sep 2015 09:13:11 +0000 Nocardia brain abscesses are a known occurrence in patients with immunocompromised conditions. Nocardial infection is commonly an unfortunate sequela to other complications which these patients are being followed up and treated for. The incidence of nocardial brain abscess in an otherwise healthy patient is extremely rare. We present a case of Nocardia brain abscess in a previously healthy individual, who, upon workup for vision and gait abnormalities, was shown to have multiple brain abscesses and a decreased absolute CD4+ lymphocyte count. Adding to the rarity of our case, the finding of lymphocytopenia in our patient was unrelated to any known predisposing condition or infectious state. Norair Adjamian, Adeline Kikam, Kathryn Ruda Wessell, Jason Casselman, Erin Toller-Artis, Olapeju Olasokan, and Robert W. Hostoffer Copyright © 2015 Norair Adjamian et al. All rights reserved. Behcet’s Disease with Intracardiac Thrombus Presenting with Fever of Unknown Etiology Thu, 03 Sep 2015 15:33:53 +0000 A young male was referred to us for evaluation of fever of unknown origin (FUO). He had history of recurrent painful oral ulcers for one year and moderate to high grade fever, pustulopapular rash, and recurrent genital ulcers for 6 months and hemoptysis for 3 days. He was detected to have intracardiac thrombi and pulmonary arterial thrombosis along with underlying Behcet’s disease (BD). Patient responded to high dose prednisolone (1 mg/Kg/day) along with monthly parenteral cyclophosphamide therapy. This case highlights the fact that BD is an important cause for pulmonary artery vasculitis with intracardiac thrombus formation, and such patients can present with FUO. Sajal Ajmani, Durga Prasanna Misra, Deep Chandh Raja, Namita Mohindra, and Vikas Agarwal Copyright © 2015 Sajal Ajmani et al. All rights reserved. Does the Maternal Serum IgG Level during Pregnancy in Primary Antibody Deficiency Influence the IgG Level in the Newborn? Thu, 27 Aug 2015 13:16:38 +0000 Purpose. To find out if the serum IgG level in the newborn baby was affected by low maternal serum IgG during pregnancy in two newly diagnosed primary antibody deficient patients. Method. Infant cord blood IgG level was compared with maternal IgG level in 2 mothers with newly diagnosed primary antibody deficiency, who declined replacement IgG treatment during pregnancy. Results. Both mothers delivered healthy babies with normal IgG levels at birth. Conclusions. The normal IgG levels and sound health in these 2 babies in spite of low maternal IgG throughout pregnancy raise interesting discussion points about maternofoetal immunoglobulin transport mechanisms in primary antibody deficiency. Vasantha Nagendran, Noel Emmanuel, and Amolak S. Bansal Copyright © 2015 Vasantha Nagendran et al. All rights reserved. CVID Associated with Systemic Amyloidosis Wed, 05 Aug 2015 05:55:40 +0000 Common variable immunodeficiency (CVID) is a frequent primary immune deficiency (PID), which consists of a heterogeneous group of disorders and can present with recurrent infections, chronic diarrhea, autoimmunity, chronic pulmonary and gastrointestinal diseases, and malignancy. Secondary amyloidosis is an uncommon complication of CVID. We report an unusual case of a 27-year-old male patient who presented with recurrent sinopulmonary infections, chronic diarrhea, and hypogammaglobulinemia and was diagnosed with CVID. The patient was treated with intravenous immunoglobulin (IVIg) therapy once every 21 days and daily trimethoprim-sulfamethoxazole for prophylaxis. Two years after initial diagnosis, the patient was found to have progressive decline in IgG levels (as low as 200–300 mg/dL) despite regular Ig infusions. The laboratory tests revealed massive proteinuria and his kidney biopsy showed accumulation of AA type amyloid. We believe that the delay in the diagnosis of CVID and initiation of Ig replacement therapy caused chronic inflammation due to recurrent infections in our patient and this led to an uncommon and life-threatening complication, amyloidosis. Patients with CVID require regular follow-up for the control of infections and assessment of adequacy of Ig replacement therapy. Amyloidosis should be kept in the differential diagnosis when managing patients with CVID. Saliha Esenboga, Deniz Çagdas Ayvaz, Arzu Saglam Ayhan, Banu Peynircioglu, Ozden Sanal, and Ilhan Tezcan Copyright © 2015 Saliha Esenboga et al. All rights reserved. A Case Report of Allergic Contact Dermatitis due to Mandragora Radix Tue, 04 Aug 2015 11:36:16 +0000 An 82-year-old male presented with rash, burning, and itching on his knees that had started 4 days after the local application of Mandragora Radix sap for 3 consecutive days. A dermatological examination revealed erythematous, edematous, and scaly plaque lesions on the patient’s knees. An open application test with M. Radix was performed, and the patient was diagnosed with allergic contact dermatitis due to M. Radix. Mandragora species, which belong to the Solanaceae family, have sedative, aphrodisiac, emetic, analgesic, and anesthetic properties. To the best of our knowledge, only one case of M. Radix-induced allergic contact dermatitis has been previously reported. Sevim Baysak, Müzeyyen Gönül, Damla Atacan, and Can Ergin Copyright © 2015 Sevim Baysak et al. All rights reserved. Hereditary Angioedema and Gastrointestinal Complications: An Extensive Review of the Literature Mon, 03 Aug 2015 13:23:21 +0000 Hereditary Angioedema (HAE) is a rare autosomal dominant (AD) disease characterized by deficient (type 1) or nonfunctional (type 2) C1 inhibitor protein. The disorder is associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. The angioedema is caused by the activation of the kallikrein-kinin system that leads to the release of vasoactive peptides, followed by edema, which in severe cases can be life threatening. The disease is usually not diagnosed until late adolescence and patients tend to have frequent episodes that can be severely impairing and have a high incidence of morbidity. Gastrointestinal involvement represents up to 80% of clinical presentations that are commonly confused with other gastrointestinal disorders such as appendicitis, cholecystitis, pancreatitis, and ischemic bower. We present a case of an HAE attack presenting as colonic intussusception managed conservatively with a C1 esterase inhibitor. Very few cases have been reported in the literature of HAE presentation in this manner, and there are no reports of any nonsurgical management of these cases. Napoleon Patel, Lisbet D. Suarez, Sakshi Kapur, and Leonard Bielory Copyright © 2015 Napoleon Patel et al. All rights reserved. Life Threatening Idiopathic Recurrent Angioedema Responding to Cannabis Thu, 16 Jul 2015 06:47:51 +0000 We present a case of a 27-year-old man with recurrent episodes of angioedema since he was 19, who responded well to treatment with medical grade cannabis. Initially, he responded to steroids and antihistamines, but several attempts to withdraw treatment resulted in recurrence. In the last few months before prescribing cannabis, the frequency and severity of the attacks worsened and included several presyncope events, associated with scrotal and neck swelling. No predisposing factors were identified, and extensive workup was negative. The patient reported that he was periodically using cannabis socially and that during these periods he was free of attacks. Recent data suggest that cannabis derivatives are involved in the control of mast cell activation. Consequently, we decided to try a course of inhaled cannabis as modulators of immune cell functions. The use of inhaled cannabis resulted in a complete response, and he has been free of symptoms for 2 years. An attempt to withhold the inhaled cannabis led to a recurrent attack within a week, and resuming cannabis maintained the remission, suggesting a cause and effect relationship. Amit Frenkel, Aviel Roy-Shapira, Brotfain Evgeni, Koyfman Leonid, Abraham Borer, and Moti Klein Copyright © 2015 Amit Frenkel et al. All rights reserved. Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature Wed, 06 May 2015 06:02:31 +0000 Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology. M. M. G. Vollebregt, A. Malfroot, M. De Raedemaecker, M. van der Burg, and J. E. van der Werff ten Bosch Copyright © 2015 M. M. G. Vollebregt et al. All rights reserved. Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome Tue, 28 Apr 2015 12:42:42 +0000 Hyper immunoglobulin-E (IgE) syndrome is an autosomal immune deficiency disease. It is characterized by an increase in IgE and eosinophil count with both T-cell and B-cell malfunction. Here, we report an 8-year-old boy whose disease started with an unusual skin manifestation. When 6 months old he developed generalized red, nontender nodules and pathologic report of the skin lesion was unremarkable (inflammatory). Then he developed a painless, cold abscess. At the age of 4 years, he developed a seronegative polyarticular arthritis. Another skin biopsy was taken which was in favor of Keratoacanthoma. Laboratory workup for immune deficiency showed high eosinophil count and high level of immunoglobulin-E, due to some diagnostic criteria (NIH sores: 41 in 9-year-olds), he was suggestive of hyper IgE syndrome. At the age of 8, the patient developed an abscess in the left inguinal region. While in hospital, the patient developed generalized tonic colonic convulsion and fever. Brain computed tomography scan revealed an abscess in the right frontal lobe. Subsequently magnetic resonance imaging (MRI) of the brain indicated expansion of the existing abscess to contralateral frontal lobe (left side). After evacuating the abscesses and administrating intravenous antibiotic, the patient’s condition improved dramatically and fever stopped. Soheyla Alyasin, Reza Amin, Alireza Teymoori, Hamidreza Houshmand, Gholamreza Houshmand, and Mohammad Bahadoram Copyright © 2015 Soheyla Alyasin et al. All rights reserved. Allergen Immunotherapy in an HIV+ Patient with Allergic Fungal Rhinosinusitis Tue, 14 Apr 2015 06:15:51 +0000 Patients with HIV/AIDS can present with multiple types of fungal rhinosinusitis, fungal balls, granulomatous invasive fungal rhinosinusitis, acute or chronic invasive fungal rhinosinusitis, or allergic fungal rhinosinusitis (AFRS). Given the variable spectrum of immune status and susceptibility to severe infection from opportunistic pathogens it is extremely important that clinicians distinguish aggressive fungal invasive fungal disease from the much milder forms such as AFRS. Here we describe a patient with HIV and AFRS to both remind providers of the importance of ruling out invasive fungal disease and outline the other unique features of fungal sinusitis treatment in the HIV-positive population. Additionally we discuss the evidence for and against use of allergen immunotherapy (AIT) for fungal disease in general, as well as the evidence for AIT in the HIV population. Ian A. Myles and Satyen Gada Copyright © 2015 Ian A. Myles and Satyen Gada. All rights reserved. Fever of Unknown Origin: An Unusual Presentation of Kikuchi-Fujimoto Disease Sun, 22 Mar 2015 12:45:50 +0000 Kikuchi-Fujimoto disease is a rare, benign, and self-limiting condition that mostly affects young females. Cervical lymphadenopathy with fever is the most common presentation of the disease. It may have unusual presentations that can lead to diagnostic dilemma and delay in diagnosis. We report a case of a 25-year-old female who presented with relapsing fever and cervical lymphadenopathy. Because of atypical presentation, there was a delay in diagnosis and increase in morbidity. High index of suspicion with collaboration between clinicians and pathologists is essential for early and accurate diagnosis of the disease. Piyush Ranjan, Manish Soneja, Nellai Krishnan Subramonian, Vivek Kumar, Shuvadeep Ganguly, Tarun Kumar, and Geetika Singh Copyright © 2015 Piyush Ranjan et al. All rights reserved. Combined Treatment with Antiviral Therapy and Rituximab in Patients with Mixed Cryoglobulinemia: Review of the Literature and Report of a Case Using Direct Antiviral Agents-Based Antihepatitis C Virus Therapy Sun, 01 Mar 2015 11:08:20 +0000 Mixed cryoglobulinemia (MC) is an autoimmune/B-cell lymphoproliferative disorder associated with Hepatitis C Virus (HCV) infection, manifesting as a systemic vasculitis. In the last decade, antiviral treatment (AT) with pegylated interferon (Peg-IFN) plus ribavirin (RBV) was considered the first therapeutic option for HCV-MC. In MC patients ineligible or not responsive to antivirals, the anti-CD20 monoclonal antibody rituximab (RTX) is effective. A combined AT plus RTX was also suggested. Since the introduction of direct acting antivirals (DAAs), few data were published about MC and no data about a combined schedule. Here, we report a complete remission of MC after a sustained virological response following a combined RTX/Peg-IFN+RBV+DAA (boceprevir) treatment and review the literature about the combined RTX/AT. Teresa Urraro, Laura Gragnani, Alessia Piluso, Alessio Fabbrizzi, Monica Monti, Elisa Fognani, Barbara Boldrini, Jessica Ranieri, and Anna Linda Zignego Copyright © 2015 Teresa Urraro et al. All rights reserved.