http://www.hindawi.com The latest articles from Hindawi Publishing Corporation © 2013 , Hindawi Publishing Corporation . All rights reserved. Mon, 28 Jan 2013 13:59:35 +0000 http://www.hindawi.com/crim/immunology/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. Sun, 27 Jan 2013 13:26:57 +0000 http://www.hindawi.com/crim/immunology/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. Thu, 10 Jan 2013 10:24:11 +0000 http://www.hindawi.com/crim/immunology/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. Tue, 11 Dec 2012 13:25:11 +0000 http://www.hindawi.com/crim/immunology/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. Tue, 27 Nov 2012 08:47:20 +0000 http://www.hindawi.com/crim/immunology/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. Thu, 22 Nov 2012 13:31:24 +0000 http://www.hindawi.com/crim/immunology/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. Wed, 21 Nov 2012 13:21:01 +0000 http://www.hindawi.com/crim/immunology/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. Wed, 21 Nov 2012 11:46:00 +0000 http://www.hindawi.com/crim/immunology/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. Tue, 20 Nov 2012 16:38:17 +0000 http://www.hindawi.com/crim/immunology/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. Mon, 12 Nov 2012 14:51:21 +0000 http://www.hindawi.com/crim/immunology/2012/158208/ A 28-year-old healthy female presented to her primary care physician with lymphadenopathy, fatigue, malaise, and night sweats. Symptoms persisted despite conservative treatment and eventually the patient underwent multiple lymph node resections and a bone marrow biopsy before a diagnosis of IgG4-related disease (IgG4-RD) was made. IgG4-RD is a relatively new disorder first histopathologically recognized within the last decade. As the disease can affect a single organ or multiple organs, symptoms can vary greatly among patients. With symptoms ranging from mild, such as lower extremity edema, to severe, such as spinal cord compression, IgG4-RD must be considered in appropriate patients. Diagnostic criteria have been proposed based on organ involvement, serum IgG4 levels, and histopathological criteria. Diagnosis can be difficult to make with many studies suggesting different values for diagnostic criteria, such as the level of tissue IgG4+/IgG+ cell ratio to delineate IgG4-RD. Treatment consists of high dose glucocorticoids as a first line therapy with some patients choosing instead to simply undergo observation. This case illustrates the difficulty in diagnosis and the need for increased awareness among medical professionals. Benjamin Smith and Matthew B. Carroll Copyright © 2012 Benjamin Smith and Matthew B. Carroll. All rights reserved. Mon, 22 Oct 2012 14:18:37 +0000 http://www.hindawi.com/crim/immunology/2012/272303/ Rheumatoid arthritis- (RA-) associated interstitial lung disease (RA-ILD) is the extra-articular complication with most adverse impact on the quality of life and survival in RA patients. However, treatment options are limited and controlled studies are lacking. Here, we present the case of a 66-year-old patient suffering from severe RA-ILD, which has been successfully treated with Rituximab (RTX). After failure of conventional DMARD therapy, our patient showed sustained improvement of clinical pulmonary parameters as well as joint inflammation following B-cell depletion with RTX. The six-minute-walk test improved from 380 meters to 536 meters and the forced vital capacity from 2.49 liters to 3.49. The disease activity score could be reduced from 7.7 to 2.8. Therefore, RTX might be considered as an alternative treatment for RA-ILD in patients not responding to conventional DMARD therapy. Wolfgang Hartung, Judith Maier, Michael Pfeifer, and Martin Fleck Copyright © 2012 Wolfgang Hartung et al. All rights reserved. Thu, 11 Oct 2012 13:38:35 +0000 http://www.hindawi.com/crim/immunology/2012/978479/ Myelomatous pleural effusion (MPE) is an extremely rare manifestation of multiple myeloma (MM). We present a case of MPE in a patient with IgG-κ MM treated with intrapleural bortezomib with systemic bortezomib-based therapy. Although we observed good local response, the patient succumbed due to systemic myeloma progression. Magdalena Klanova, Pavel Klener, Marek Trneny, Jan Straub, and Ivan Spicka Copyright © 2012 Magdalena Klanova et al. All rights reserved. Sun, 23 Sep 2012 09:29:17 +0000 http://www.hindawi.com/crim/immunology/2012/358271/ Up to now the exposures to hair and skin derivatives of animals have not yet been the subject of systematic studies. The observation of a clinical case has provided the opportunity for a review of the literature. The inpatient was a 49-year-old man, a carder in a textile factory, exposed to angora wool. He noticed the appearance of dyspnea during working hours. There was no eosinophilia in blood, and the results of pulmonary function tests were normal. The nonspecific bronchial provocation test with methacholine demonstrated an abnormal bronchial reactivity. The challenge test with angora wool was positive (decrease in FEV1 of more than 40%) as well as total IGE and specific IgE to rabbit epithelium (433 KU/l and 12.1 KUA/l, resp.). Several sources of allergens were found in the rabbit, and the main allergen was represented by proteins from epithelia, urine, and saliva. Most of these proteins belong to the family of lipocalin, they function as carriers for small hydrophobic molecules (vitamins and pheromones). If the diagnosis of occupational asthma caused by animal hair and skin derivatives may be relatively easy by means of the challenge test, defining etiology is complicated because of the lack of in vitro tests. Pietro Sartorelli, Riccardo Romeo, Giuseppina Coppola, Roberta Nuti, and Valentina Paolucci Copyright © 2012 Pietro Sartorelli et al. All rights reserved. Wed, 22 Aug 2012 09:07:16 +0000 http://www.hindawi.com/crim/immunology/2012/523589/ Systemic lupus erythematosus (SLE) is a multisystem disorder characterised by B-cell hyperactivity with production of multiple autoantibodies. Fever in SLE may be caused by disease exacerbation or by infection. We report a patient of SLE that was later complicated by fever, pancytopenia, and massive splenomegaly. Corticosteroid therapy for SLE might have masked the underlying infection at earlier stage. Despite negative results of rk-39 test and bone marrow biopsy, a very high suspicion for visceral leishmaniasis (VL) led us to go for direct agglutination test (DAT) and polymerase chain reaction (PCR) for leishmanial antigen that revealed positive results. Moreover, significant improvement in clinical and biochemical parameters was noted on starting the patient on antileishmanial therapy. Sunny Garg, Mousumi Kundu, Amit Nandan Dhar Dwivedi, Lalit Prashant Meena, Neeraj Varyani, Asif Iqbal, and Kamlakar Tripathi Copyright © 2012 Sunny Garg et al. All rights reserved. Thu, 31 May 2012 09:53:42 +0000 http://www.hindawi.com/crim/immunology/2012/919241/ We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash. Avni Y. Joshi, Erin K. Ham, Neel B. Shah, Xiangyang Dong, Shakila P. Khan, and Roshini S. Abraham Copyright © 2012 Avni Y. Joshi et al. All rights reserved. Mon, 28 May 2012 11:14:22 +0000 http://www.hindawi.com/crim/immunology/2012/813629/ Antiphospholipid syndrome is a disorder presenting with arterial or venous thrombus and a history of fetal loss. Early diagnosis and adequate treatment is important to prevent multiple organ failures. Here, we described a woman with a two-year history of systemic lupus erythematosus with severe nephrotic syndrome, manifested multiple thrombi over the portal vein and the inferior vena cava, combined with acute renal infarction. The patient underwent splenectomy 10 months ago. Initially, she received anticoagulant treatment and low-dose glucocorticoid, but multiple organ failure progressed. After emergency plasma exchange followed by glucocorticoid pulse therapy, the patient recovered. Deng-Ho Yang Copyright © 2012 Deng-Ho Yang. All rights reserved. Thu, 19 Apr 2012 15:17:20 +0000 http://www.hindawi.com/crim/immunology/2012/931528/ Toxic epidermal necrolysis is the most severe form of drug-induced skin reaction and includes denudation of >30% of total body surface area. The mechanism of disease is not completely understood, but immunologic mechanisms, cytotoxic reactions, and delayed hypersensitivity seem to be involved. We report a case of cephazolin-induced toxic epidermal necrolysis treated with intravenous immunoglobulin and N-acetylcysteine with excellent response. Carlos Saavedra, Paola Cárdenas, Héctor Castellanos, Kateir Contreras, and J. R. Castro Copyright © 2012 Carlos Saavedra et al. All rights reserved. Mon, 26 Mar 2012 15:43:35 +0000 http://www.hindawi.com/crim/immunology/2012/390831/ Systemic lupus erythematosus (SLE) is a systemic autoimmune disorder with involvement of multiple organs. Various forms of serositis, including pleural effusion, pericardial effusion, and ascites, may be found during the course of SLE. Peritoneal involvement by ascites is common in the initial presentation of SLE. However, chylous ascites is uncommon in SLE patients. Here, we describe a 93-year-old female with initial presentation of chylous ascites during SLE flares. Marked distention and an ovoid shape of the abdomen were observed. Shifting dullness and central tympanic sounds were found on percussion. Rales were heard in bilateral breathing sounds, multiple oral ulcers appeared in the oral cavity, and chest images showed bilateral pleural effusion. Abdominal sonography revealed moderate ascites and pleural effusion. Neither organisms nor malignant cells were revealed in the culture or cytology of ascites and pleural effusion. The diagnosis of SLE was arrived at by positive antinuclear antibody (ANA), discoid rash, oral ulcers, serositis (pleural effusion and ascites), and proteinuria. The patient received intravenous methylprednisolone 250 mg/day for three days. The pleural effusion resolved dramatically after steroid therapy and abdominal distention related to ascites formation subsided obviously. Guan-Liang Chen, Deng-Ho Yang, and Wen-Hsiu Hsu Copyright © 2012 Guan-Liang Chen et al. All rights reserved. Tue, 19 Jul 2011 11:06:32 +0000 http://www.hindawi.com/crim/immunology/2011/236079/ Küttner tumor is a chronic inflammatory disease that presents with a firm swelling of the submandibular gland and often mimics a neoplasm. Recently evidence suggests that Küttner tumor may be a type of disorder characterized by IgG4-related inflammations. Herein, we report 3 cases of submandibular gland swellings with severe fibrosis, inflammation with marked lymphoplasmacytic infiltration; this pathology mimics clinical manifestation of a malignant tumor in 18-fluorodeoxyglucose positron emission tomography (FDG-PET) findings. Masayuki Ishida, Hiroaki Fushiki, and Yukio Watanabe Copyright © 2011 Masayuki Ishida et al. All rights reserved.