Case Reports in Immunology The latest articles from Hindawi Publishing Corporation © 2016 , Hindawi Publishing Corporation . 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. Successful Desensitization of a Patient with Rituximab Hypersensitivity Tue, 20 Jan 2015 09:06:20 +0000 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 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 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 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 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 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 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 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 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 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.