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 on a 30-year-old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill-Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an underdeveloped lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill-Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome.
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PMID:Premature aging and immunodeficiency: Mulvihill-Smith syndrome? 845 31

Head and neck manifestations of acquired immunodeficiency syndrome (AIDS) are among the most common complications of this disease. Some of these manifestations are the initial signs of human immunodeficiency virus (HIV) infection, and others are associated with full-blown AIDS. Otologic manifestations include otitis externa, otitis media, Kaposi's sarcoma and sensorineural hearing loss. Nasal and oral manifestations of AIDS are more common than otologic manifestations and range from infections, caused by both opportunistic and nonopportunistic organisms, to malignancies. We address common manifestations and current treatment recommendations.
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PMID:Head and neck manifestations of AIDS in adults. 957 21

Cytomegalovirus (CMV) belongs to Herpesvirida family and it occurs quite frequently in the human environment. It is a very important pathogen in persons with suppressed or lowered resistance. Having special kindship with epithelium, it may cause primary infection or reveal secondary influence in the latent form. Congenital CMV infection is a major cause of sensorineural hearing loss and neurological impairment in children. Otogenic complications may develop in patients with viral infection immunodeficiency. Aim of the paper was assessment of lateral sinus thrombosis (LST) in children with acute otitis media (AOM) and CMV infection. Authors present a case of LST in 5-year old child with AOM with mastoiditis and acquired CMV infection. In the first phase a disease appeared as mononucleosis-like infection with developing neurological signs resulting from meningitis. In the second phase the signs of acute otitis media, mastoiditis and lateral sinus thrombosis increased. Despite broad spectrum antibiotics therapy the intracranial complication developed which was surgically treated with good outcome. All the symptoms resulting from mastoiditis, LST and meningitis ceased. Clinical symptoms of the secondary CMV infection are rare in children. Complications may develop despite proper treatment of the ear and throat infections, and may result from immunodeficiency after CMV infection.
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PMID:[Sigmoid sinus thrombosis in 5-year old child with acute otitis media and acquired CMV infection]. 1735 74

To evaluate the hearing function in patients affected by primary antibody deficiency disorders. Forty-seven patients, 25 of whom were affected by X-linked agammaglobulinemia and 22 of whom were affected by common variable immunodeficiency were evaluated with audiologic tests that included pure tone audiometry, acoustic immittance assessment and auditory brainstem-evoked response. Eighteen patients (38%), 7 with X-linked agammaglobulinemia and 11 with common variable immunodeficiency, showed sensorineural hearing loss, bilateral in 12 and unilateral in 6. Our data underline the high frequency of hearing loss in patients with antibody deficiency and suggest that a systematic audiologic evaluation should be part of the clinical care of these patients.
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PMID:Sensorineural hearing loss in primary antibody deficiency disorders. 1863 34

Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. An associated neuromuscular phenotype has not previously been described in detail. We report on an infant with clinical features suggestive of Vici syndrome and additional sensorineural hearing loss. Muscle biopsy revealed several changes including markedly increased variability in fiber size, increased internal nuclei, and abnormalities on Gomori trichrome and oxidative stains, raising a wide differential diagnosis including neurogenic atrophy, centronuclear myopathy (CNM) or a metabolic (mitochondrial) cytopathy. Respiratory chain enzyme studies, however, were normal and sequencing of common CNM-associated genes did not reveal any mutations. This case expands the clinical spectrum of Vici syndrome and indicates that muscle biopsy ought to be considered in infants presenting with suggestive clinical features. In addition, we suggest that Vici syndrome is considered in the differential diagnosis of infants presenting with congenital callosal agenesis and that additional investigation has to address the possibility of associated ocular, auditory, cardiac, and immunologic involvement when this radiologic finding is present.
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PMID:Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. 2018 78

We present a case in which a patient infected with human immunodeficiency virus (HIV) developed a sensorineural hearing loss and tinnitus due to inner-ear syphilis affection. The patient had normal otomicroscopy, tympanometry, ear, nose & throat examination, caloric test and intracranial magnetic resonance imagining. Relevant serological blood samples and lumbal puncture indicated syphilis in its secondary stage or the early latent phase. Audiometry demonstrated a considerable improvement and tinnitus decreased after ten days of treatment with antibiotics and prednisone.
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PMID:[Otosyphilis]. 2061 79

We report a rare case of progressive hearing loss after acquired CMV infection in a child with Langerhans cell histiocytosis (LCH). A 5-month-old female was diagnosed as having LCH. When she was 14 months old, she received an unrelated donor umbilical cord blood transfusion for the treatment of intractable LCH. CMV infection was confirmed after the blood transfusion. Because her own umbilical cord had no CMV, the CMV infection was not congenital. When she was 7 years old, mixed hearing loss was noted with bilateral otitis media with effusion. After that time, the sensorineural hearing loss progressed to bilateral profound hearing loss over 3 years. Three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging with gadolinium contrast enhancement revealed a high intensity area in the inner ear that suggested bilateral labyrinthitis. This case demonstrates the possibility that, under the immunodeficiency, the acquired CMV infection causes progressive sensorineural hearing loss.
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PMID:Progressive hearing loss following acquired cytomegalovirus infection in an immunocompromised child. 2308 31

Recurrent bacterial meningitis is not a common disease and makes physicians seek underlying predisposing factors which can result from anatomic anomalies or immunodeficiency. In this paper we present a boy with recurrent bacterial meningitis with the history of trauma and sensorineural hearing loss. Mondini dysplasia was demonstrated with computed homographic scans (CT-Scan) of temporal bones.
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PMID:Recurrent bacterial meningitis in a child with hearing impairment, mondini dysplasia: a case report. 2345 30

Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency; familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); and Emberger syndrome (primary lymphedema with MDS). A comprehensive examination of the clinical features of GATA2 deficiency is currently lacking. We reviewed the medical records of 57 patients with GATA2 deficiency evaluated at the National Institutes of Health from January 1, 1992, to March 1, 2013, and categorized mutations as missense, null, or regulatory to identify genotype-phenotype associations. We identified a broad spectrum of disease: hematologic (MDS 84%, AML 14%, chronic myelomonocytic leukemia 8%), infectious (severe viral 70%, disseminated mycobacterial 53%, and invasive fungal infections 16%), pulmonary (diffusion 79% and ventilatory defects 63%, pulmonary alveolar proteinosis 18%, pulmonary arterial hypertension 9%), dermatologic (warts 53%, panniculitis 30%), neoplastic (human papillomavirus+ tumors 35%, Epstein-Barr virus+ tumors 4%), vascular/lymphatic (venous thrombosis 25%, lymphedema 11%), sensorineural hearing loss 76%, miscarriage 33%, and hypothyroidism 14%. Viral infections and lymphedema were more common in individuals with null mutations (P = .038 and P = .006, respectively). Monocytopenia, B, NK, and CD4 lymphocytopenia correlated with the presence of disease (P < .001). GATA2 deficiency unites susceptibility to MDS/AML, immunodeficiency, pulmonary disease, and vascular/lymphatic dysfunction. Early genetic diagnosis is critical to direct clinical management, preventive care, and family screening.
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PMID:GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. 2450 62

The main clinical presentation of patients with primary antibody deficiency (PAD) incorporates upper respiratory tract infections comprising otitis media, sinusitis and pneumonia. This study was designed to investigate clinical and paraclinical otological complications in major types of PAD. A cross sectional study was conducted on 55 PAD patients with diagnosis of selective IgA deficiency, common variable immunodeficiency (CVID), X-linked agammaglobulinemia (XLA), and hyper IgM syndrome. All patients underwent otological examinations, audiometry, and auditory brain stem response. Otological complications were detected in 54.5% of PAD patients. Conductive hearing loss was the main finding amongst PID patients (73.3%) followed by sensorineural hearing loss which was present in 8 cases. Otitis media with effusion (21.8%), chronic otitis media (27.2%), tympanosclerosis with intact tympanic membrane (5.4%) and auditory neuropathy (3.6%) were most important found complications. CVID and XLA patients with prophylactic usage of antibiotics had lower rate of audiological complications (p=0.04) and otitis media with effusion (p=0.027). As our results showed, asymptomatic otological findings were not rare in PAD patients; therefore, a systematic otological investigation is recommended as an integral part of the management and follow-up of these patients.
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PMID:Otological findings in pediatric patients with hypogammaglobulinemia. 2465 20


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