Case Reports in Immunology http://www.hindawi.com The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Hereditary Angioedema and Gastrointestinal Complications: An Extensive Review of the Literature Mon, 03 Aug 2015 13:23:21 +0000 http://www.hindawi.com/journals/crii/2015/925861/ 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 http://www.hindawi.com/journals/crii/2015/780824/ 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 http://www.hindawi.com/journals/crii/2015/137368/ 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 http://www.hindawi.com/journals/crii/2015/341898/ 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 http://www.hindawi.com/journals/crii/2015/875260/ 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 http://www.hindawi.com/journals/crii/2015/314217/ 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 http://www.hindawi.com/journals/crii/2015/816424/ 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. Successful Desensitization of a Patient with Rituximab Hypersensitivity Tue, 20 Jan 2015 09:06:20 +0000 http://www.hindawi.com/journals/crii/2015/524507/ Rituximab is a monoclonal antibody which targets CD20 in B cells that is used for the treatment of CD20 positive oncologic and hematologic malignancies. Rituximab causes hypersensitivity reactions during infusions. The delay of treatment or loss of a highly efficient drug can be prevented by rapid drug desensitization method in patients who are allergic to rituximab. We report a low grade B cell non-Hodgkin lymphoma patient with rituximab hypersensitivity successfully treated with rapid drug desensitization. In experienced centers, drug desensitization is a novel modality to break through in case of hypersensitivity that should be considered. Pinar Ataca, Erden Atilla, Resat Kendir, Sevim Bavbek, and Muhit Ozcan Copyright © 2015 Pinar Ataca et al. All rights reserved. Lepra Reaction with Lucio Phenomenon Mimicking Cutaneous Vasculitis Wed, 17 Dec 2014 00:10:08 +0000 http://www.hindawi.com/journals/crii/2014/641989/ Leprosy is a disease typically found in the tropics. Patients with leprosy can have varying presentation with constitutional symptoms, joint pains, skin nodules, and rarely a vasculitis-like picture with skin ulcers and neuropathy. We present a young lady who presented with the rare manifestation of skin infarcts mimicking cutaneous vasculitis, diagnosed on histopathology to have Lucio phenomenon on a background of lepromatous leprosy. With increasing migration and widespread use of biologic response modifiers, clinicians all over the world need to be aware of various presentations of leprosy as well as needing to keep an open mind while considering the differential diagnoses of vasculitis. Durga Prasanna Misra, Jyoti Ranjan Parida, Abhra Chandra Chowdhury, Krushna Chandra Pani, Niraj Kumari, Narendra Krishnani, and Vikas Agarwal Copyright © 2014 Durga Prasanna Misra et al. All rights reserved. Periodic Fever and Neutrophilic Dermatosis: Is It Sweet’s Syndrome? Thu, 04 Dec 2014 11:38:13 +0000 http://www.hindawi.com/journals/crii/2014/320920/ A 7-year-old boy with high grade fever (39°C) and warm, erythematous, and indurated plaque above the left knee was referred. According to the previous records of this patient, these indurated plaques had been changed toward abscesses formation and then spontaneous drainage had occurred after about 6 to 7 days, and finally these lesions healed with scars. In multiple previous admissions, high grade fever, leukocytosis, and a noticeable increase in erythrocyte sedimentation rate and C-reactive protein were noted. After that, until 7th year of age, he had shoulder, gluteal, splenic, kidney, and left thigh lesions and pneumonia. The methylprednisolone pulse (30 mg/kg) was initiated with the diagnosis of Sweet’s syndrome. After about 10–14 days, almost all of the laboratory data regressed to nearly normal limits. After about 5 months, he was admitted again with tachypnea and high grade fever and leukocytosis. After infusion of one methylprednisolone pulse, the fever and tachypnea resolved rapidly in about 24 hours. In this admission, colchicine (1 mg/kg) was added to the oral prednisolone after discharge. In the periodic fever and neutrophilic dermatosis, the rheumatologist should search for sterile abscesses in other organs. Raheleh Assari, Vahid Ziaee, Nima Parvaneh, and Mohammad-Hassan Moradinejad Copyright © 2014 Raheleh Assari et al. All rights reserved. Systemic Lupus Erythematosus with Hepatosplenic Granuloma: A Rare Case Thu, 20 Nov 2014 06:55:11 +0000 http://www.hindawi.com/journals/crii/2014/737453/ Background. Systemic lupus erythematosus (SLE) is an autoimmune disease which is known to present with a wide variety of clinical manifestations. Case Report. A 15-year-old male presented with complaints of moderate grade fever and generalized body swelling. There was no history of cough, weight loss, joint pain, oral ulcerations, skin rash, photosensitivity, loss of hair, pain abdomen, jaundice, or any significant illness in the past. Contrast enhanced computerized tomography of the abdomen revealed hypodense lesions in both liver and spleen (without contrast enhancement), suggestive of granulomas along with few retroperitoneal and mesenteric lymph nodes. On the basis of immunological tests and renal biopsy report, SLE with hepatosplenic granulomatosis diagnosis was made. He was given pulse methylprednisolone 500 mg, for 3 days and he showed dramatic improvement clinically. Conclusion. Hepatic and splenic granulomas are not common in SLE, but this should be kept in differential diagnosis. Anju Bharti and Lalit Prashant Meena Copyright © 2014 Anju Bharti and Lalit Prashant Meena. All rights reserved. Successful Management of Insulin Allergy and Autoimmune Polyendocrine Syndrome Type 4 with Desensitization Therapy and Glucocorticoid Treatment: A Case Report and Review of the Literature Wed, 19 Nov 2014 08:55:34 +0000 http://www.hindawi.com/journals/crii/2014/394754/ Introduction. Insulin allergy is a rare complication of insulin therapy, especially in type 1 diabetes mellitus (T1DM). Key manifestations are hypersensitivity-related symptoms and poor metabolic control. T1DM, as well as insulin allergy, may develop in the context of autoimmune polyendocrine syndrome (APS), further complicating management. Case Report. A 17-year-old male patient, diagnosed with T1DM, was treated with various insulin therapy schemes over several months, which resulted in recurrent anaphylactoid reactions and poor glycemic control, after which he was referred to our Endocrinology and Immunology Department. A prick test was carried out for all commercially available insulin presentations and another insulin scheme was designed but proved unsuccessful. A desensitization protocol was started with Glargine alongside administration of Prednisone, which successfully induced tolerance. Observation of skin lesions typical of vitiligo prompted laboratory workup for other autoimmune disorders, which returned positive for autoimmune gastritis/pernicious anemia. These findings are compatible with APS type 4. Discussion. To our knowledge, this is the first documented case of insulin allergy in type 4 APS, as well as this particular combination in APS. Etiopathogenic components shared by insulin allergy and APS beg for further research in immunogenetics to further comprehend pathophysiologic aspects of these diseases. Joselyn Rojas, Marjorie Villalobos, María Sofía Martínez, Mervin Chávez-Castillo, Wheeler Torres, José Carlos Mejías, Edgar Miquilena, and Valmore Bermúdez Copyright © 2014 Joselyn Rojas et al. All rights reserved. Bilateral Lung Transplantation in a Patient with Humoral Immune Deficiency: A Case Report with Review of the Literature Wed, 15 Oct 2014 00:00:00 +0000 http://www.hindawi.com/journals/crii/2014/910215/ Humoral immune deficiencies have been associated with noninfectious disease complications including autoimmune cytopenias and pulmonary disease. Herein we present a patient who underwent splenectomy for autoimmune cytopenias and subsequently was diagnosed with humoral immune deficiency in the context of recurrent infections. Immunoglobulin analysis prior to initiation of intravenous immunoglobulin (IVIG) therapy was notable for low age-matched serum levels of IgA (11 mg/dL), IgG2 (14 mg/L), and IgG4 (5 mg/L) with a preserved total level of IgG. Flow cytometry was remarkable for B cell maturation arrest at the IgM+/IgD+ stage. Selective screening for known primary immune deficiency-causing genetic defects was negative. The disease course was uniquely complicated by the development of pulmonary arteriovenous malformations (AVMs), ultimately requiring bilateral lung transplantation in 2012. This is a patient with humoral immune deficiency that became apparent only after splenectomy, which argues for routine immunologic evaluation prior to vaccination and splenectomy. Lung transplantation is a rare therapeutic endpoint and to our knowledge has never before been described in a patient with humoral immune deficiency for the indication of pulmonary AVMs. Jocelyn R. Farmer, Caroline L. Sokol, Francisco A. Bonilla, Mandakolathur R. Murali, Richard L. Kradin, Todd L. Astor, and Jolan E. Walter Copyright © 2014 Jocelyn R. Farmer et al. All rights reserved. Increased IL-17, a Pathogenic Link between Hepatosplenic Schistosomiasis and Amyotrophic Lateral Sclerosis: A Hypothesis Wed, 23 Jul 2014 10:08:07 +0000 http://www.hindawi.com/journals/crii/2014/804761/ The immune system protects the organism from foreign invaders and foreign substances and is involved in physiological functions that range from tissue repair to neurocognition. However, an excessive or dysregulated immune response can cause immunopathology and disease. A 39-year-old man was affected by severe hepatosplenic schistosomiasis mansoni and by amyotrophic lateral sclerosis. One question that arose was, whether there was a relation between the parasitic and the neurodegenerative disease. IL-17, a proinflammatory cytokine, is produced mainly by T helper-17 CD4 cells, a recently discovered new lineage of effector CD4 T cells. Experimental mouse models of schistosomiasis have shown that IL-17 is a key player in the immunopathology of schistosomiasis. There are also reports that suggest that IL-17 might have an important role in the pathogenesis of amyotrophic lateral sclerosis. It is hypothesized that the factors that might have led to increased IL-17 in the hepatosplenic schistosomiasis mansoni might also have contributed to the development of amyotrophic lateral sclerosis in the described patient. A multitude of environmental factors, including infections, xenobiotic substances, intestinal microbiota, and vitamin D deficiency, that are able to induce a proinflammatory immune response polarization, might favor the development of amyotrophic lateral sclerosis in predisposed individuals. Oswald Moling, Alfonsina Di Summa, Loredana Capone, Josef Stuefer, Andrea Piccin, Alessandra Porzia, Antonella Capozzi, Maurizio Sorice, Raffaella Binazzi, Lathá Gandini, Giovanni Rimenti, and Peter Mian Copyright © 2014 Oswald Moling et al. All rights reserved. Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation Wed, 05 Mar 2014 15:41:12 +0000 http://www.hindawi.com/journals/crii/2014/136752/ Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple episodes of skin and lung infections (abscess) with Staphylococcus aureus throughout his adult life. He had multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth. The IgE was elevated (>5000 IU/mL). Genetic mutation analysis revealed a mutation affecting the transactivation domain of the STAT3 gene. Conclusion. The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL. Hyper IgE syndrome is a genetic disorder that is either autosomal dominant or recessive. A definite diagnosis can be made with genetic mutation analysis, and in this case, it revealed a very rare finding of the transactivation domain STAT3 mutation. Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis in suspected cases. Chad J. Cooper, Sarmad Said, and German T. Hernandez Copyright © 2014 Chad J. Cooper et al. All rights reserved. Infectious and Noninfectious Granulomatosis in Patient with Multiple Sclerosis: Diagnostic Dilemmas and Followup Mon, 17 Feb 2014 12:11:23 +0000 http://www.hindawi.com/journals/crii/2014/876525/ Patient was followed up over the course of 30 years. In 1978, after severe systemic infection followed by fever, pulmonary edema, and numerous neurological manifestations, patient was differentially diagnosed with apoplectic form of multiple sclerosis (MS), which was confirmed a year later via neurological and MRI findings. Approximately 20 years following the initial attack, sarcoidosis was diagnosed during the regular preoperative procedures required for cataract surgery. As consequence of lower immune system, infectious granulomatosis in form of pulmonary tuberculosis developed. Ophthalmological findings revealed bilateral retrobulbar neuritis (RBN) approximately six years after initial attack. This developed into total uveitis with retinal periphlebitis and anterior granulomatous uveitis—all of which are clinically similar in both MS and sarcoidosis. Jelena Paovic, Predrag Paovic, and Vojislav Sredovic Copyright © 2014 Jelena Paovic et al. All rights reserved. A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome Mon, 28 Oct 2013 12:44:54 +0000 http://www.hindawi.com/journals/crii/2013/296827/ Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and humoral arms has variable severity. Since the clinical presentation is extremely variable, a high clinical suspicion will allow an early diagnosis. Serum alpha-fetoprotein is elevated in 80–85% of patients and therefore could be used as a screening tool. Here, we present a case of a 5-year-old female infant who was admitted to our department at the age of 16 months because of gait disorders and febrile episodes that had begun at 5 months after the cessation of breastfeeding. Serum alfa-fetoprotein level was elevated. Other investigations showed leukocytopenia with lymphopenia, reduced IgG2 and IgA levels, and low titers of specific postimmunization antibodies against tetanus toxoid and Haemophilus B polysaccharide. Peripheral lymphocytes subsets showed reduction of T cells with a marked predominance of T cells with a memory phenotype and a corresponding reduction of naïve T cells; NK cells were very increased (41%) with normal activity. The characterization of the ATM gene mutations revealed 2 specific mutations (c.5692C > T/c.7630-2A > C) compatible with AT diagnosis. It was concluded that AT syndrome should be considered in children with precocious signs of cerebellar ataxia and recurrent fever episodes. Luigi Nespoli, Annapia Verri, Silvia Tajè, Francesco Paolo Pellegrini, and Maddalena Marinoni Copyright © 2013 Luigi Nespoli et al. All rights reserved. Autoimmune Lymphoproliferative Syndrome and Epstein-Barr Virus-Associated Lymphoma: An Adjunctive Diagnostic Role for Monitoring EBV Viremia? Thu, 25 Jul 2013 13:17:13 +0000 http://www.hindawi.com/journals/crii/2013/245893/ Background. Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to defects in FAS-mediated apoptosis. ALPS is characterized by childhood onset of chronic lymphadenopathy and splenomegaly, autoimmunity, an expanded population of double-negative T cells (DNTCs), and an increased risk of lymphoma. This propensity for lymphoma in ALPS is not well understood. It is possible that lymphomagenesis in some of these patients may result from Epstein-Barr virus (EBV) infection exploiting the defective T-cell surveillance resulting from impaired FAS-mediated apoptosis. Case Presentation. We report the first case, to our knowledge, of lymphoma in a patient with ALPS that was clinically heralded by progressively increasing EBV viremia. We discuss its practical implications and the possible immune pathways involved in the increased risk for EBV-associated lymphoproliferative disorders in ALPS patients. Conclusion. In patients with ALPS, distinguishing chronic lymphadenopathy from emerging lymphoma is difficult, with few practical recommendations available. This case illustrates that, at least for some patients, monitoring for progressively increasing EBV viremia may be useful. Romina Pace and Donald C. Vinh Copyright © 2013 Romina Pace and Donald C. Vinh. All rights reserved. Autoimmune Hepatitis with Anti Centromere Antibodies Wed, 24 Jul 2013 09:35:56 +0000 http://www.hindawi.com/journals/crii/2013/742080/ We present the case report of a 49-year-old type 2 diabetes mellitus patient presenting with abdominal pain and black stool for 15 days. A proper workup of laboratory investigations helped us diagnose autoimmune hepatitis with anticentromere antibodies. The authors would like to highlight that screening AIH patients for anticentromere antibody is not mandatory but can be considered, especially in the presence of disease-related symptomatology for quicker, more accurate diagnosis and optimum management. Moushumi Lodh, Debkant Pradhan, and Ashok Parida Copyright © 2013 Moushumi Lodh et al. All rights reserved. Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant Sun, 21 Jul 2013 11:46:48 +0000 http://www.hindawi.com/journals/crii/2013/323614/ Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of Burkholderia cepacia from his lung, together with a marginally low nitroblue tetrazolium reduction assay (NBT), made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91phox expression. In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained. Saul Oswaldo Lugo Reyes, Nizar Mahlaoui, Carolina Prando, Lizbeth Blancas Galicia, Marjorie Hubeau, Stéphane Blanche, Capucine Picard, Jean-Laurent Casanova, and Jacinta Bustamante Copyright © 2013 Saul Oswaldo Lugo Reyes et al. All rights reserved. Rare Cause of Seizures, Renal Failure, and Gangrene in an 83-Year-Old Diabetic Male Sun, 23 Jun 2013 15:02:51 +0000 http://www.hindawi.com/journals/crii/2013/523865/ We report an 83-year-old diabetic male who presented with acute-onset renal failure, seizures, psychosis, pneumonia, and right foot gangrene. Investigations revealed thrombocytopenia, CSF lymphocytosis, ANA and dsDNA positivity, hypocomplementemia, and pneumonitis following which he was treated with pulse methylprednisolone. He was treated for Pseudomonas-related ventilator-associated pneumonia, candiduria, and E. coli-related bedsore infection prior to discharge. He was discharged at request and died 17 days later due to a respiratory infection. Stalin Viswanathan and Kandan Balamurugesan Copyright © 2013 Stalin Viswanathan and Kandan Balamurugesan. All rights reserved. Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child Mon, 28 Jan 2013 13:59:35 +0000 http://www.hindawi.com/journals/crii/2013/927897/ Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children. J. F. Moreau, John A. Ozolek, P. Ling Lin, Todd D. Green, Elaine A. Cassidy, Veena L. Venkat, and Andrew R. Buchert Copyright © 2013 J. F. Moreau et al. All rights reserved. Differentiation between Celiac Disease, Nonceliac Gluten Sensitivity, and Their Overlapping with Crohn’s Disease: A Case Series Sun, 27 Jan 2013 13:26:57 +0000 http://www.hindawi.com/journals/crii/2013/248482/ Celiac disease (CD) and nonceliac gluten sensitivity (NCGS) are two distinct conditions triggered by the ingestion of gliadin. Although symptoms of nonceliac gluten sensitivity may resemble those of celiac disease, due to the lack of objective diagnostic tests, NCGS is associated with overlapping symptomatologies of autoimmunities and Crohn’s disease. Furthermore, a gluten-free diet is only recommended for those who meet the criteria for a diagnosis of CD. Unfortunately, that leaves many nonceliac gluten-sensitive people suffering unnecessarily from very serious symptoms that put them at risk for complications of autoimmune disorders that might be resolved with a gluten-free diet. Thus, a new paradigm is needed for aid in diagnosing and distinguishing among various gut-related diseases, including CD, NCGS (also known as silent celiac disease), and gut-related autoimmunities. Herein, we report three different cases: the first, an elderly patient with celiac disease which was diagnosed based on signs and symptoms of malabsorption and by a proper lab test; second, a case of NCGS which was initially misdiagnosed as lupus but was detected as NCGS by a proper lab test with its associated autoimmunities, including gluten ataxia and neuromyelitis optica; third, a patient with NCGS overlapping with Crohn’s disease. The symptomatologies of all three patients improved significantly after 12 months of gluten-free diet plus other modalities. Aristo Vojdani and David Perlmutter Copyright © 2013 Aristo Vojdani and David Perlmutter. All rights reserved. Scalp Necrosis as a Late Sign of Giant-Cell Arteritis Thu, 10 Jan 2013 10:24:11 +0000 http://www.hindawi.com/journals/crii/2013/231565/ Retinal infarction and scalp necrosis are described as unusual but devastating complications of giant-cell arteritis. We report a patient with this rare complication and emphasize the importance of timely diagnosis and treatment of giant-cell arteritis. Mohammad Alimohammadi and Ann Knight Copyright © 2013 Mohammad Alimohammadi and Ann Knight. All rights reserved. The Efficacy of Mizoribine (Inosine Monophosphate Dehydrogenase Inhibitor) for ANCA-Associated Vasculitis with Hepatitis B Virus Carrier Tue, 11 Dec 2012 13:25:11 +0000 http://www.hindawi.com/journals/crii/2012/929318/ A 42-year-old female who was an asymptomatic carrier of hepatitis B virus (HBV) was diagnosed with antineutrophil cytoplasm antibody- (ANCA-) associated vasculitis and was induced to remission with 30 mg/day prednisolone nine years ago. Four years ago, she suffered recurrence of ANCA-associated vasculitis and with 30 mg/day prednisolone was induced to remission. This time, laboratory data showed 3-fold increase in myeloperoxidase antineutrophil cytoplasmic antibody (MPO-ANCA) levels. Administration of 30 mg/day prednisolone was started. Three days later, she was admitted to our hospital suffering from fatigue. After admission, urinalysis showed glomerular hematuria. Despite administration of 30 mg/day prednisolone, MPO-ANCA titer had been of high level, ranging from 42 to 83 EU for 2.5 months. Furthermore, the adverse effects of steroid were seen. We decided the tapering of prednisolone (25 mg/day) and the start of mizoribine (4-carbamoyl-1-β-D-ribofuranosyl imidazolium-5-olate) administration. After mizoribine treatment, MPO-ANCA titer was decreased without any mizoribine-related adverse effects. Six months later, MPO-ANCA titer was decreased to normal levels and she was induced to clinical remission without reactivation of HBV. We describe the effectiveness of mizoribine for the ANCA-associated vasculitis complicated with HBV-carrier. Jun Muratsu, Atsuyuki Morishima, Masayoshi Kukida, Anzu Tanaka, Shigeki Fujita, and Katsuhiko Sakaguchi Copyright © 2012 Jun Muratsu et al. All rights reserved. Symptomatic Secondary Selective IgM Immunodeficiency in Adult Man with Undiagnosed Celiac Disease Tue, 27 Nov 2012 08:47:20 +0000 http://www.hindawi.com/journals/crii/2012/684247/ Selective IgM immunodeficiency (SIgMID) is a heterogeneous disorder with no known genetic background and may occur as a primary or a secondary condition. Celiac disease has been reported in association with several humeral immunodeficiencies, including isolated severe selective IgA deficiency, panhypogammaglobulinemia, and isolated combined IgA and IgM deficiency. There are only few reported cases of pediatric and adult patients with SIgMID and celiac disease. In this paper, we describe an adult patient with a symptomatic secondary SIgMID associated with undiagnosed celiac disease, with a resolution of clinical symptoms of immunodeficiency and serum IgM normalization following a gluten-free diet. Eli Magen, Viktor Feldman, Mishal Joseph, and Hadari Israel Copyright © 2012 Eli Magen et al. All rights reserved. Intravenous Immunoglobulin and Mycophenolate Mofetil for Long-Standing Sensory Neuronopathy in Sjögren's Syndrome Thu, 22 Nov 2012 13:31:24 +0000 http://www.hindawi.com/journals/crii/2012/186320/ Sensory neuronopathy is described in association with the Sjögren's syndrome (SS). We studied a 55-year-old woman with a 4-year history of progressive asymmetric numbness, distal tingling, and burning sensation in upper and lower limbs. In a few months, she developed ataxia with increased hypoanaesthesia. Electrodiagnostic tests revealed undetectable distal and proximal sensory nerve action potential in upper and lower limbs. Cervical spine magnetic resonance showed a signal hyperintensity of posterior columns. Previous treatment with high-dose glucocorticoids and azathioprine was ineffective. A combined treatment with intravenous immunoglobulin and mycophenolate mofetil was followed by a progressive and persistent improvement. This case documented the efficacy and the safety of the coadministration of intravenous immunoglobulin and mycophenolate mofetil in sensory neuronopathy associated with SS refractory to conventional immunosuppressive therapy. Maria Giovanna Danieli, Lucia Pettinari, Ramona Morariu, Fernando Monteforte, and Francesco Logullo Copyright © 2012 Maria Giovanna Danieli et al. All rights reserved. A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections Wed, 21 Nov 2012 13:21:01 +0000 http://www.hindawi.com/journals/crii/2012/196417/ We describe a girl, now 9 years of age, with chronic idiopathic thrombocytopenic purpura, persistent nonmalignant lymphadenopathy, splenomegaly, recurrent infections, and autoimmune hemolytic anemia. Her symptoms partly fit the definitions of both autoimmune lymphoproliferative syndrome (ALPS) and common variable immunodeficiency disorders (CVIDs). Genetic analysis showed no abnormalities in the ALPS-genes FAS, FASLG, and CASP10. The CVID-associated TACI gene showed a homozygous polymorphism (Pro251Leu), which is found also in healthy controls. Marjolein A. C. Mattheij, Ellen J. H. Schatorjé, Eugenie F. A. Gemen, Lisette van de Corput, Peet T. G. A. Nooijen, Mirjam van der Burg, and Esther de Vries Copyright © 2012 Marjolein A. C. Mattheij et al. All rights reserved. A Rare Case of Prototheca Algaemia in a Patient with Systemic Lupus Erythematosus and Recent Belimumab Infusion Wed, 21 Nov 2012 11:46:00 +0000 http://www.hindawi.com/journals/crii/2012/754901/ Novel agents for the treatment of immune-mediated diseases such as systemic lupus erythematosus (SLE) have been increasingly used as an alternative to or in combination with conventional therapies. Belimumab, a human monoclonal antibody that inhibits B-cell activating factor (BAFF), has demonstrated efficacy in moderate-to-severe SLE with similar adverse effects when compared to other biologic agents and conventional SLE therapies. Here, we describe a woman with SLE and diabetes mellitus (DM) on immunosuppressive therapy for five years who was admitted to the hospital for pneumonia but had a complicated hospital course with multiple infections and, most notably, a nosocomial algaemia due to Prototheca wickerhamii, which was treated successfully with amphotericin B. She had recently received three belimumab infusions as an outpatient prior to admission to the hospital. To the best of our knowledge no cases of human protothecosis in patients receiving belimumab have been described in the English literature; however, unusual infections have to be considered in all patients undergoing immunosuppressive therapies who persist with fever despite conventional antimicrobials. Carolina Mejia-Otero, Shelley Singh, Luis Arias Urdaneta, Carlos Sesin, Anindita Chakrabarti, Nanci Mae Miller, and Claudio Tuda Copyright © 2012 Carolina Mejia-Otero et al. All rights reserved. Acute Spontaneously Resolving Pulmonary Vasculitis: A Case Report Tue, 20 Nov 2012 16:38:17 +0000 http://www.hindawi.com/journals/crii/2012/706838/ This is the first description that we are aware of describing the spontaneous resolution of an acute pulmonary vasculitis, possibly secondary to microscopic polyangiitis. Haemoptysis is a common symptom for patients presenting to primary and tertiary referral centres, and pulmonary vasculitis is one of a variety of aetiologies that should always be considered. The pulmonary vasculitides are difficult diagnostic and management problems. They are encumbered by a relative paucity of level 1 evidence addressing their diagnosis, classification, and treatment. This is therefore an important paper to publish because it adds to the global breadth of experience with this important clinical condition. James B. Geake and Graeme Maguire Copyright © 2012 James B. Geake and Graeme Maguire. All rights reserved.