Abstract: We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency–associated genes (FAS-ligand (FASL) gene (p.G167R); perforin-1 (PRF1 (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (BLM) gene and the Moesin (MSN) (p.A122T) gene). The heterozygous mutation in the FASL gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient’s immunodepression is discussed. This observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency. PubDate: Sat, 28 Dec 2019 17:05:00 +000
Abstract: Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation. PubDate: Sat, 28 Dec 2019 16:50:01 +000
Abstract: Introduction. Indolent T-lymphoblastic proliferation (iT-LBP) is a rare nonmalignant entity that presents as a proliferation of T-lymphoblasts. We report a first such case with a recurrent laryngeal obstruction presentation that was successfully controlled with Sirolimus. Case presentation. This is the case of a 29-year-old female who presented with a recurrent significant lymphoid hyperplasia in the adenoid and tongue base region as well as a right cervical lymph node. After repeated adenoidectomies and tonsillectomies, and based on pathological and clinical findings she was diagnosed with iT-LBP. Trials of radiotherapy and immunotherapy with cyclosporine and rituximab all failed to control the progression of the disease. Sirolimus was finally able to restrict the growth and improve her symptoms. Conclusion. While It-LBP does not usually require treatment, it is important to report cases in which treatment was crucial for the survival of the patient, and the effective role of Sirolimus in doing so, without any major adverse effects. PubDate: Mon, 16 Dec 2019 09:35:00 +000
Abstract: We present the case of a 19-year-old female with a mild form of Autosomal Dominant Hyper IgE syndrome (HIES) associated with a loss-of-function mutation in STAT3. Within the first years of life she developed multiple, Staphylococcus aureus associated abscesses in the neck and face requiring frequent incision and drainage. Respiratory tract infections were not a feature of the clinical phenotype and a high resolution thoracic CT scan was unremarkable. Retained dentition was noted but fungal nail disease and recurrent thrush were absent. The total IgE was 970 IU/L, Lymphocyte counts and immunoglobulin levels were normal (IgG borderline 18.5 gr/L). There was suboptimal response to test immunisation with Pneumovax II vaccine. Th17 cell phenotyping revealed low levels of IL-17 expressing cells (0.3% of total CD4 T Cells numbers). Genetic analysis identified a missense mutation, N567D, in a conserved region of the linker domain of STAT3. Functional studies in HEK293 cells reveal that this mutation potently inhibits STAT3 activity when compared to the wildtype protein. This is consistent with other reported mutations in STAT3 associated with HIES. However, surprisingly, the magnitude of inhibition was similar to another STAT3 mutation (V637M) which causes a much more severe form of the disease. PubDate: Sun, 13 Oct 2019 00:06:38 +000
Abstract: DIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, we reported a patient with a novel mutation in IL1RN with a healthy neonatal period, a late-onset of pustular dermatosis, inflammatory arthritis, and excellent response to canakinumab treatment. Herein, we are presenting a new case of late-onset DIRA syndrome, carrying a different mutation and showing different clinical findings. This patient is the first one in the literature with the inflammatory arthritis, nail psoriasis, and onychomycosis and with her remarkable response to monoclonal antibodies. The case responded well and fully recovered after treatment with adalimumab, but not with canakinumab. The DIRA disease can lead to death from multiple organ failures and if recognized early, the treatment with replacement of the deficient protein with biologic agents induces rapid and complete remission. Therefore, clinical symptoms should be learned exactly by the pediatricians, pediatric rheumatologists, and immunologists; and molecular analysis targeting this defect must be performed as early as possible. PubDate: Sun, 04 Aug 2019 08:05:06 +000
Abstract: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by elevated levels of immunoglobulin E (IgE), eczematous dermatitis, cold abscesses, and recurrent infections of the lung and skin caused by Staphylococcus aureus. The dominant form is characterized by nonimmunologic features including skeletal, connective tissue, and pulmonary abnormalities in addition to recurrent infections and eczema. Omalizumab is a humanized recombinant monoclonal antibody against IgE. Several studies reported clinical improvement with omalizumab in patients with severe atopic eczema with high serum IgE level. We present the case of a 37-year-old male with HIES and cutaneous manifestations, treated with humanized recombinant monoclonal antibodies efalizumab and omalizumab. After therapy for 4 years, we observed diminished eczema and serum IgE levels. PubDate: Thu, 04 Jul 2019 09:05:06 +000
Abstract: Immunoglobulin G4-related disease (IgG4-RD) is known for forming soft tissue mass lesions that may have compressive effects. It is an extremely rare disease that most frequently affects the pancreas causing autoimmune pancreatitis. It can also affect the gallbladder, salivary glands, and lacrimal glands causing respective organ-specific complications. In our report, we describe an IgG4-RD case that affected the spinal cord. A 60-year-old female presented with cervical spinal cord compression caused by IgG4-RD leading to several neurological deficits. Pathological examination of the excisional biopsy of the mass revealed dense lymphoplasmacytic cells infiltration and stromal fibrosis with IgG4 and plasma cells. The patient showed a dramatic response to the administration of systemic steroids with almost resolution of her neurological symptoms. This case highlights the first case in literature for IgG4-RD of the extradural tissue causing spinal compression. Hereby, we also demonstrate the dramatic response of IgG4-RD to the administration of systemic steroids as the patient had no recurrence after 5 years of close follow-up, the longest reported period of follow-up reported in the literature to date. PubDate: Tue, 18 Jun 2019 13:05:02 +000
Abstract: Immune checkpoint inhibitors targeting programmed cell death protein 1 and cytotoxic T-lymphocyte associated protein 4 have improved survival in patients with metastatic melanoma, especially in combination (i.e., ipilimumab-nivolumab). Postmarketing surveillance has identified rare but at times life-threatening adverse effects associated with these agents in combination and as monotherapy, which include myocarditis, myositis, myasthenia gravis (MG), and hepatotoxicity. Further evaluation of immune checkpoint therapy-induced MG identified the rapid clinical progression, prolonged treatment/supportive therapy course, and higher frequency of myasthenic crisis in these patients versus those with idiopathic MG. More rapid incorporation of aggressive treatment options (i.e., intravenous immunoglobulin, plasmapheresis) may be necessary in these cases. Anti-striational antibodies are often detected in individuals with myasthenia gravis and concurrent myositis and myocarditis. A high-index of suspicion is necessary to assist with rapid treatment initiation as these patients can rapidly deteriorate into respiratory compromise. A case of a 78-year-old woman with metastatic melanoma status after combination therapy with ipilimumab-nivolumab that developed transaminitis, myositis, myocarditis, and myasthenia gravis (with positive anti-striational antibodies) five days after the first cycle, is presented. Despite high dose intravenous methylprednisolone and intravenous immunoglobulin treatment, she ultimately entered hospice care eight days after hospital admission, 36 days after her first cycle. PubDate: Tue, 30 Apr 2019 09:05:05 +000
Abstract: Parry–Romberg syndrome (PRS) is a rare disorder characterized by unilateral facial atrophy. Currently, the pathogenesis of PRS is poorly understood and no definitive treatment is available. This article reports the case of a 51-year-old woman with progressive hemifacial atrophy following herpes zoster infection, who presented with a concomitant chronic history of heat-induced diplopia. Magnetic resonance imaging showed unilateral cerebral white matter, periventricular, and medial longitudinal fasciculus lesions. The patient’s diplopia resolved following treatment with valacyclovir. Infection has been previously considered as potential cause of PRS. However, herpes-induced PRS with ophthalmologic manifestations of Uhthoff’s phenomena has not previously been reported. The present case suggests that PRS may possibly have an autoimmune etiology resembling that of multiple sclerosis. PubDate: Thu, 18 Apr 2019 08:05:04 +000
Abstract: We present a unique case of vancomycin-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome masquerading as elusive endocarditis. A 37-year-old female actively using intravenous drugs presented with worsening right upper extremity pain, fever, and chills. Workup revealed methicillin-resistant staphylococcus aureus (MRSA) bacteremia and multiple right-sided septic pulmonary emboli. Echocardiogram was negative for vegetation. Vancomycin was initiated for bacteremia management suspected secondary to right upper extremity abscesses. However, despite resolution of abscesses, fevers persisted, raising suspicion for endocarditis not detected by echocardiogram. On hospital day 25, the patient began showing signs of DRESS syndrome, ultimately manifesting as transaminitis, eosinophilia, and a diffuse, maculopapular rash. Vancomycin was switched to Linezolid and she improved on high dose steroids. The persistent fevers throughout this hospital course were thought to be an elusive endocarditis before DRESS syndrome fully manifested. Although Vancomycin-induced DRESS is uncommon, this case highlights the importance of identifying early signs of significant adverse effects. PubDate: Wed, 10 Apr 2019 08:05:03 +000
Abstract: Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is the most common form of autoimmune encephalitis, caused by the interaction between an antibody and its target, located on glutamate receptor type N-methyl-D-aspartate (NMDA) of neuronal surface. There is a wide spectrum of clinical features starting by a viral-like prodrome, followed by symptoms such as psychosis, aggressive behaviour, memory loss, seizures, movement disorders, and autonomic instability. Up to 50% of the affected young female patients have germ-cells tumours as ovarian teratoma, making it essential to establish an early diagnosis through detection of specific antibodies in serum and cerebrospinal fluid (CSF). This retrospective observational study was performed in patients whom positive anti-NMDA receptor antibodies have been tested, associated with clinical manifestations that suggest autoimmune encephalitis and a germ-cell tumour confirmed by pathology. Six patients have tested positive for anti-NMDA receptor antibodies associated with a germ-cell tumour and clinical manifestations of autoimmune encephalitis. Management includes aggressive immunosuppression and surgical removal. PubDate: Sun, 10 Mar 2019 10:05:03 +000
Abstract: Common variable immunodeficiency (CVID) is a primary immunodeficiency due to a disorder of the adaptive immune system which causes hypogammaglobulinemia and therefore an increased susceptibility to infection; noninfectious, inflammatory conditions including systemic autoimmunity and lymphoproliferative complications are also commonly associated with CVID. Castleman disease (CD) is a systemic disease clinically characterized by diffuse lymphadenopathy, splenomegaly, anemia, and systemic inflammatory symptoms. This makes CD a great mimicker of more common benign and malignant masses in the neck, chest, abdomen, and pelvis. A novel case of primary immunodeficiency (CVID) in a middle-aged woman, who developed multicentric CD (MDC) with splenomegaly, is described. The authors suggest that the onset of MCD and of the correlated splenomegaly was due to incorrect management of the hypogammaglobulinemia as immunoglobulin G (IgG) levels were not kept within normal ranges. Correct management of the hypogammaglobulinemia allowed splenectomy to be performed without any infectious surgical complications. MCD is reported for the first time in association with an adult case of CVID. The above reported case highlights the need for a timely correct diagnosis and treatment of CVID to avoid complications, which could cause recourse to splenectomy, such as in our case or development of malignancies. PubDate: Thu, 14 Feb 2019 09:05:01 +000
Abstract: Angiotensin converting enzyme inhibitors (ACEi) are the most commonly used antihypertensives. Therefore, ACEI induced angioedema (ACEi-AE) is not uncommon. Physicians tend to miss the diagnosis whenever a patient is taking the drug for years due to misbelief of “a drug that was taken for years may not be the cause for an allergic reaction or an angioedema”. But ACEi can induce angioedema after many years of usage as well as sometimes after stopping the drug even. Most of the emergency physicians and centers are not aware of clinical diagnosis and diagnostic criteria including available diagnostic tests and more importantly the treatment options of ACEi-AE. Therefore not only the diagnosis is delayed or missing but also proper treatment options are not practiced at many emergency rooms and at wards. PubDate: Wed, 02 Jan 2019 00:00:00 +000
Open Access journal
[343 journals]
