Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a family with five of six siblings (including identical male twins) with a novel constellation of immunologic and neurologic impairments. Affected subjects experienced severe dermatitis starting around 9 months of age, Stevens-Johnson syndrome in early childhood, and extreme elevations of IgE (9,400-43,000 IU/ml). The oldest sibling died at age 27 of respiratory failure following recurrent, severe pneumonias. All four surviving affected siblings have had chronic sinusitis or otitis, cutaneous vasculitis, and recurrent bacterial pneumonias leading to bronchiectasis. Neurologic features in all five siblings included oral motor deficits, dysarthria, low average IQ (70-80), and essential myoclonus. Four had documented ataxia and/or mild sensory loss with increased patellar but diminished ankle reflexes. The nonconsanguineous parents and one sibling had none of the above findings, consistent with autosomal recessive inheritance. This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley-Liss, Inc.
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PMID:Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. 1498 14

In order to determine the clinical and laboratory features of X-linked agammaglobulinemia, the records of 33 male patients with XLA were reviewed during 22 years (1980-2002) in the Iranian referral center of primary immunodeficiency disorders. The patients' ages ranged from 20 to 360 months (median 113 months). The median age at the onset of the disease was 8 months and the median age of diagnosis was 48 months, with a median diagnosis delay of 33 months. Almost all of the patients presented common infectious diseases, which were: pneumonia, otitis, diarrhea, sinusitis, and arthritis. During the course of illness, infections in the respiratory tract, gastrointestinal tract, central nervous system, and musculoskeletal system were seen in 93.9%, 75.8%, 33.3%, and 21.2% of XLA patients, respectively. The most common complications of these patients were chronic infections in 75.8% of them, including: chronic otitis media, chronic sinusitis, chronic diarrhea, and bronchiectasis.
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PMID:X-linked agammaglobulinemia: a survey of 33 Iranian patients. 1501 35

Clinical practice guidelines for the management of acute sinusitis in children have been published by the American Academy of Pediatrics. Of note is that in this document, a brief discussion of chronic disease concluded that the pathogenesis and management are essentially unknown. Although there are insufficient data in the literature to develop evidence-based clinical guidelines, a careful review of the literature and clinical experience of experts who manage pediatric chronic sinusitis is presented in an effort to develop specific recommendations and to offer practical treatment options. Factors associated with chronic sinusitis should be addressed individually and include recurrent viral upper respiratory infections, allergic and nonallergic rhinitis, ciliary dyskinesia, cystic fibrosis, immunodeficiency, and anatomic abnormalities. Bacteriology includes the 3 pathogens associated with acute disease i.e., Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis but with chronic sinusitis also includes Staphylococcus aureus, anaerobic bacteria, and fungi. Medical interventions discussed include endoscopic sinus surgery, saline nasal irrigation, intranasal decongestant therapy, intranasal steroids, and oral antibiotics. Clinical ranking without regard to side effects and cost suggests that endoscopic sinus surgery and antral irrigation have the highest probability of substantial symptom improvement. Other issues discussed include identification and management of gastroesophageal reflux disease (GERD), allergy, and immune deficiency.
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PMID:Chronic sinusitis in children. 1601 92

Common variable immunodeficiency is characterized with B-cell and T-cell dysfunction and hypogammaglobulinemia. Recurrent bacterial infections, such as otitis media, chronic sinusitis and recurrent pneumonia due to diminished immunoglobulin (Ig) levels and impaired antibody production are frequently observed in common variable immunodeficiency. Almost half of the patients with common variable immunodeficiency have problems related to the gastrointestinal system. A 39-year-old woman was referred to our department with the complaint of chronic diarrhea. She had experienced diarrhea without mucus or blood in the last year and had lost 30 kg. In her medical history, she had suffered from recurrent upper and lower respiratory infections like sinusitis, otitis media and pneumonia since childhood. Serum immunoglobulin levels were low. There were no parasites or ova in her stool examinations. Esophagogastroduodenoscopy detected widespread macroscopic nodular appearance on duodenum, and biopsies from the duodenum revealed giardiasis invading the tissue. She was diagnosed as common variable immunodeficiency. After metronidazole therapy and intravenous immunoglobulin infusion was started, her diarrhea attacks ceased and she regained her normal weight. Common gastrointestinal system problems in patients with common variable immunodeficiency are lactose intolerance, lymphoid hyperplasia/diffuse lymphoid infiltration, loss of villi and infection, especially with Giardia lamblia. Giardiasis may lead to severe mucosal flattening and sometimes to lymphoid hyperplasia at the lamina propria of the duodenum. Medical history should be evaluated carefully regarding recurrent respiratory infections. In such cases with chronic diarrhea, common variable immunodeficiency should be kept in mind as a possible cause.
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PMID:Common variable immunodeficiency (CVID) presenting with malabsorption due to giardiasis. 1625 5

Clinical practice guidelines for the management of acute bacterial rhinosinusitis in children were published by the American Academy of Pediatrics in 2001. Changes in the antibiotic susceptibility patterns for the common pathogens causing both acute and chronic rhinosinusitis warrant a reevaluation and update of these recommendations. In addition, there was only a very brief discussion of chronic disease in this publication, with the conclusion that the pathogenesis and management of recurrent or prolonged infection were essentially unknown. Although there are still insufficient data in the literature to develop evidence-based clinical guidelines, a careful review of recent literature and the clinical experience of experts who manage pediatric chronic sinusitis are presented in an effort to provide some specific recommendations and to offer practical treatment options. Factors associated with chronic rhinosinusitis should be addressed individually and include environmental pollution, recurrent viral upper respiratory infections, allergic and nonallergic rhinitis, ciliary dyskinesia, cystic fibrosis, immunodeficiency, gastroesophageal reflux, and anatomic abnormalities.
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PMID:Rhinosinusitis in children. 1702 77

Chronic rhinosinusitis (CRS) is a surprisingly common, poorly defined, and notoriously difficult-to-treat disease. It has a complex pathophysiology that often, but not always, involves nasal or paranasal sinus infection. Anatomic variations that predispose the sinuses to obstruction may play a role, but are unusual sole causes of chronic disease. Other possible causative factors include allergic or nonallergic inflammation, mucociliary dysfunction, aspirin intolerance (Samter's triad), immunodeficiency, and cystic fibrosis. Although a majority of patients achieve long-term relief from CRS after successful endoscopic sinus surgery, a significant proportion do not, and are likely to benefit from sustained postsurgical medical therapy. Medical therapy for CRS may include treatment with corticosteroids, antibiotics, antifungal agents, antihistamines, leukotriene modifiers, nasal decongestants, mucolytics, and nasal irrigations. The selection of appropriate medical therapy is based on endoscopic evaluation, sinus cultures, and symptoms. Computed tomography, the imaging standard for evaluation of the sinuses, provides information about the extent and distribution of mucosal disease beyond what is visible endoscopically. Because it fails to provide information on the origin of the mucosal changes, computed tomography provides limited information to guide medical therapy.
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PMID:Evolution of medical management of chronic rhinosinusitis. 1704 19

Risk factors of recurrent sinusitis involve upper respiratory infections, bacterial load of the adenoids, day care attendance and exposure to tobacco smoke as well as sinonasal abnormalities, including septal deviation, choanal atresia, polyps and hypoplasia of sinuses. Furthermore, several systemic disorders can facilitate the development of chronic sinusitis, such as allergic rhinitis, gastro-esophageal reflux disease (GER), cystic fibrosis, primary ciliary dyskinesia, and immunodeficiency diseases. A clinical practice guideline for the management of sinusitis is available only for the acute disease, but does not include for the management of the chronic form (i.e. chronic/recurrent sinusitis) and even less for the prevention strategies. As several studies indicate that the majority of children respond to sequential medical followed by surgical interventions, when needed, the best prevention of recurrence or chronicity is to properly treat acute sinusitis; in addition, children should be removed from larger and crowded day care whenever possible and should not be exposed to cigarette smoke. If allergic rhinitis co-exists, it can be managed with nasal steroids sprays and anti-histamines, although the long-term results are controversial. In case of chronic sinusitis, the strategy of prevention is to assess and to cure the associated conditions.
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PMID:Rhinosinusitis: prevention strategies. 1776 14

The patient was a 76-year-old man who had a prior history of recurrent pneumonia and severe, chronic sinusitis. Computed tomography showed a thymoma, and laboratory results revealed hypogammaglobulinemia. Therefore, Good's Syndrome (GS, rare adult-onset immunodeficiency with thymoma) was diagnosed. To treat his sinusitis, we started the patient on long-term clarithromycin therapy, preoperatively. A thymothymectomy was performed, but the immunological disorder was not resolved. Although standard gamma globulin replacement was not given, his sinusitis symptoms were ameliorated, and he has not had pneumonia since the operation. Long-term macrolide therapy probably plays some role in managing sino-pulmonary infections associated with GS.
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PMID:A case of Good's syndrome: a rare acquired immunodeficiency associated with thymoma. 2158 35

Goldenhar syndrome (GS) results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female) averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female) also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.
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PMID:Goldenhar syndrome: a cause of secondary immunodeficiency? 2274 88

A 44-year-old woman with a medical history of chronic pain syndrome presented with a 3-day history of a painful "rash" that started on her face and spread to her legs. Further history revealed that she recently started a new medication, varenicline, 7 weeks prior to admission and had a long-standing history of intranasal cocaine use. Review of systems was significant for rhinitis, nasal congestion, joint pain, and a febrile episode 2 days prior to admission. Physical examination revealed centrally violaceous, tender, stellate, and retiform purpuric patches and plaques on her extremities, nasal dorsum, and cheeks. Approximately 1.0-centimeter tender purpuric nodules were noted on her bilateral second proximal interphalangeal joints. She was afebrile. Initial laboratory data revealed a mild leukopenia, normal serum urea nitrogen and creatinine without hematuria, and an elevated erythrocyte sedimentation rate. Further analysis showed a normal complement level, negative antinuclear antibody, human immunodeficiency virus, rapid plasma reagin, and hepatitis panel. Trace cryoglobenemia and a positive anti-streptolysin O were noted, along with a positive antineutrophil cytoplasmic antibody (c-ANCA) (> 8.0 U) and perinuclear antineutrophil cytoplasmic antibodies, or p-ANCA (1.5 U). The hypercoagulable workup was negative. A skin biopsy taken from the left thigh was consistent with leukocytoclastic vasculitis. After several weeks of high-dose oral prednisone taper, the patient's symptoms improved, but flared upon discontinuation. On follow-up, she admitted to frequent relapses of cocaine abuse and had developed tender purpuric plaques on her nose, ears, and extremities, some with ulcerations (Figure 1 and Figure 2). She also had significant edema and joint pain that limited her ambulation. Further evaluation revealed normal chest x-ray results; however, computed tomography of her sinuses demonstrated thickened maxillary sinuses consistent with subacute/ chronic sinusitis. She also developed hematuria. Mass spectrometry analysis ofhair and urine samples tested positive for cocaine and levamisole. A presumptive diagnosis of levamisole-induced Wegener's vasculitis was made. She was restarted on high-dose prednisone and methotrexate with improvement and advised to discontinue cocaine use, so as to avoid exposure to both substances.
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PMID:Levamisole-induced Wegener's granulomatosis following contaminated cocaine abuse. 2300 47


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