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)

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single institution has had sufficient numbers of patients to develop a comprehensive clinical picture of the disorder. Accordingly, a national registry of United States residents with XLA was established in 1999 to provide an updated clinical view of the disorder in a large cohort of patients. A total of 201 patients were registered by 66 physicians. The estimated birth rate for the 10-year period of 1988-1997 was 1/379,000. Infection was the most common initial clinical presentation (85%), followed by a positive family history (41%) and neutropenia (11%). Although the average age of diagnosis was younger in patients with a positive family history (mean, 2.59 yr) than in patients with a negative family history (mean, 5.37 yr) (p < 0.001), only 34.5% of patients with a positive family history at the time of their birth were diagnosed before clinical symptoms developed-that is, based on family history alone. Seventy percent of patients had at least 1 episode of otitis, 62% at least 1 episode of pneumonia, 60% at least 1 episode of sinusitis, 23% at least 1 episode of chronic/recurrent diarrhea, 21% at least 1 episode of conjunctivitis, 18% at least 1 episode of pyoderma and/or cellulitis, 11% at least 1 episode of meningitis/encephalitis, 10% at least 1 episode of sepsis, 8% at least 1 episode of septic arthritis, 6% at least 1 episode of hepatitis, and 3% at least 1 episode of osteomyelitis. Fourteen of 201 (6.9%) patients were dead at the time they were entered in the Registry. However, in a prospective 4 /4-year follow-up of living patients, only 3/80 (3.75%) patients died. Causes of death included disseminated enterovirus infection (n = 6), pulmonary insufficiency (n = 5), adenovirus infection (n = 1), sepsis (n = 1), acquired immunodeficiency disease syndrome (AIDS) (n = 1), myocarditis (n = 1), hepatitis (n = 2), and stem cell transplantation (n = 1).
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PMID:X-linked agammaglobulinemia: report on a United States registry of 201 patients. 1686 44

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed by mutation analysis, from northern Thailand. The mean age of onset was 2.5 years and the mean age at diagnosis was 7.3 years. All patients had a history of otitis media, pneumonia and arthritis at the time of diagnosis, five patients had developed bronchiectasis and 3 patients septicemia. Other infections reported included sinusitis (5/6), pericarditis (1/6), meningitis (1/6) and pyoderma (1/6). Haemophilus influenzae, Streptococcus pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus were isolated on multiple occasions. One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life.
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PMID:X-linked agammaglobulinemia in northern Thailand. 1691 89

In order to determine the clinical and laboratory findings of Iranian patients with presumed hyper-immunoglobulin E syndrome (HIES), the medical records of 22 patients from 21 unrelated families, who had been registered in the Iranian Primary Immunodeficiency Registry, were observed. The median age of patients at the time of first symptom and at the time of diagnosis was 1 month and 52.5 months, respectively, with a median diagnosis delay of 70 months. 13 families had consanguineous marriages. IgE level was higher than 2000 IU/ml in all patients, ranging from >2000 to 80,000 IU/ml. The most commonly occurring manifestations were: eczema and dermatitis, pneumonia, upper respiratory tract infections, cutaneous abscesses, diarrhoea, deep abscesses, and otitis media. Other less frequent manifestations were: mucocutaneous candidiasis, sinusitis, cutaneous ulcers, Molluscum contagiosum, herpetic keratitis, onychomycosis, conjunctivitis, septic arthritis, and meningitis. Five patients were complicated by bronchiectasis due to recurrent pneumonia and 5 patients died because of severe infections and malignancy. The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system. Although HIES is a rare condition, the recurrent infections should always raise a suspicion, which deserves further evaluation for detecting the syndrome.
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PMID:The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. 1700 35

Fungal sinusitis caused by invasive fungal infections, such as Mucormycosis, occurs predominantly in an immunocompromised patient. However, invasive cranial bone mycoses are rare and are usually associated with host immunodeficiency. They are difficult to diagnose, and in many cases are fatal. Treatment consists of antifungal chemotherapy, radical surgical debridement, and control of the underlying immunological condition. We report a case of Mucormycosis in a patient with type 1 diabetes mellitus. The patient had a history of dental pathology and associated renal dysfunction. The patient was managed by extensive surgical debridement followed by amphotericin B lipid complex injection (Abelcet 5 mg/bw kg/day) as an antifungal agent. Our patient's ocular function was affected. The radical treatment and follow-up by a multidisciplinary team eliminated the mucor-related consequences, however, the patient died because of end-stage renal failure. In conclusion, type 1 diabetes may be associated with invasive fungal sinusitis.
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PMID:Mucormycosis mimicks sinusitis in a diabetic adult. 1715 26

Neutropenia is characterized by decrease in the absolute number of circulating neutrophils and an increase susceptibility to infections. The current study was performed in order to explain the clinical and laboratory findings of patients with antibody deficiency disorders associated neutropenia. The patients' records of 19 neutropenic cases out of 207 patients with antibody deficiencies, who had been referred to Children's Medical Center and enrolled in Iranian primary immunodeficiency registry, were reviewed. Nineteen cases (14 male and 5 female), with a mean age of 10.7+/-5.7 years, were associated with neutropenia (9.2%). The disorders with associated neutropenia were Hyper IgM syndromes (3 of 8), Common variable immunodeficiency (13 of 109), and X-linked agammaglobulinemia (3 of 45). The median age for the onset of disease and diagnosis age were 15 months (1-134) and 3.8 years (6 months-13 years), respectively. The most common infections during the course of illness were pneumonia (13 cases), diarrhea (12 cases), oral candidiasis (9 cases), otitis media (6 cases), sinusitis (6 cases), cutaneous infections (5 cases), and abscess (5 cases). Other less frequent infections were: conjunctivitis, oral ulcers, meningitis, and osteomyelitis. Three neutropenic patients died because of recurrent infections. Neutropenia may occur in any of the primary immunodeficiency disorders. Persistent or severe infections always pose a supposition, which deserves further evaluation for detecting an underlying immune deficiency syndrome and neutropenia, since a delay in diagnosis may result in a serious organ damage or even death of the patient.
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PMID:Neutropenia in patients with primary antibody deficiency disorders. 1730 96

Ataxia-telangiectasia is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia-telangiectasia, the records of 104 patients with ataxia-telangiectasia (54 male, 50 female) with the age range of 1.6-23.5 years were reviewed. The Iranian Primary Immunodeficiency Registry was used as the data source. Progressive ataxia was seen in all the patients. Other symptoms were eye movement disorders (n = 84), slurred speech (n = 70), mental retardation (n = 10), and ocular (n = 87) and cutaneous (n = 73) telangiectasia. Three patients developed leukemia and lymphoma, and 17 patients had family history of malignancy. Positive correlation was seen between clinical immunologic symptoms and immunoglobulin deficiencies (P = 0.004). The predominant infections were sinopulmonary and acute and recurrent infections (78 cases). Infections included pneumonia (56 patients), otitis media (34 patients), and sinusitis (50 patients). Average serum alpha-fetoprotein level was 149 +/- 137 ng/dL. The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial marriages. Treatment should be focused on supportive management to prolong survival.
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PMID:Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. 1762 18

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

Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, distinct facial dysmorphism, and psychomotoric retardation. The hyper-immunoglobulin E (hyper-IgE or Job syndrome) is a primary immunodeficiency characterized by recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE level of >2000 IU/ml. We present the first case to our knowledge of an association between Dubowitz syndrome, hyper-IgE syndrome, and nasal polyposis (due to allergic fungal sinusitis) in a 14-year-old girl. Eosinophilic inflammatory reaction is the feature present in all three conditions. Unlike most cases of allergic fungal sinusitis, this case was not treated with an initial booster of oral steroids due to the risk of disseminated invasive fungal infection, reported in other cases of hyper-IgE syndrome. The case and its management is presented and discussed.
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PMID:Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome. 1832 28

A detailed examination of 40 children with recurrent exudative otitis media (EOM) using enzyme immunoassay and polymerase chain reaction suggested that ENT pathology in the above children (EOM, adenoiditis, tonsillopharyngitis, sinusitis) may be a complication of acute or chronic Epstein-Barr virus infection (EBVI) because primary EBVI infection or its long-term persistence followed secondary immunodeficiency resulting in lymphoid system impairment and damage of upper airway epithelium. This causes a recurrent and persistent course of EOM. Etiotropic and pathogenetically sound treatment of children with recurrent EOM includes antiviral therapy, immunocorrection, rehabilitation with participation of pediatrician, immunologist, infection therapist.
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PMID:[Epstein-Barr virus infection as etiological and pathogenetic factor of exudative otitis media in childhood]. 1883 22

We identified 3 patients with chronic, asymptomatic HIV who presented between 2001 and 2005 with spontaneous nasal septal abscesses in the absence of previous trauma, nasal surgery, sinusitis, infection, or immunodeficiency. A MEDLINE search revealed no other cases of spontaneous isolated nasal septal abscesses. Each of our patients presented to the emergency department with complaints of fever and headaches; 2 of them also had nasal obstruction, nasal and lip swelling, and pain. Clinical examinations and imaging studies revealed isolated anterior nasal septal abscesses. In each case, incision and drainage was performed immediately, and antibiotics started. One patient had an early loss of septal cartilage and nasal support, which developed into a crooked and saddle-nose deformity requiring reconstruction 7 months later. Staphylococcus aureus was identified in all 3 cases. To the best of our knowledge, these are the only 3 cases of spontaneous isolated nasal septal abscess reported in the literature. We discuss the importance of early diagnosis and intervention, as well as reconstructive techniques.
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PMID:Three spontaneous occurrences of nasal septal abscess in patients with chronic asymptomatic HIV-the need for early intervention and reconstruction. 1968 16


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