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

The study of inherited immunodeficiencies has proven valuable in elucidating molecular signaling cascades underlying the developmental and functional regulation of the human immune system. The first example of a human immunologic disease caused by mutation of a chemokine receptor was provided by WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, a rare, combined immunodeficiency featuring an unusual form of neutropenia. Subsequent studies following the initial description of mutations in the CXCR4 gene have revealed a striking concordance in the types of mutations observed, suggesting that impaired regulation of receptor signaling by truncation of the cytoplasmic tail domain is an essential aspect in disease pathogenesis. Biochemical studies have provided support for the model that impaired receptor downregulation leads to the characteristic immunologic and hematologic disturbances. Interestingly, these genetic studies have also identified phenocopies with the same clinical features but without mutation of CXCR4, suggesting that mutations in as yet uncharacterized downstream regulators of the receptor may be involved in a proportion of cases.
 ...
PMID:WHIM syndrome: a defect in CXCR4 signaling. 1609 Dec 5

The human papillomaviruses (HPVs) are epitheliotropic viruses that require the environment of a differentiating squamous epithelium for their life cycle. HPV infection through abrasion of the skin or sexual intercourse causes benign warts and sometimes cancer. HPV DNA detected in the blood has been interpreted as having originated from metastasized cancer cells. The present study examined HPV DNA in banked, frozen peripheral blood mononuclear cells (PBMCs) from 57 U.S. human immunodeficiency virus (HIV)-infected pediatric patients collected between 1987 and 1996 and in fresh PBMCs from 19 healthy blood donors collected in 2002 to 2003. Eight patients and three blood donors were positive mostly for two subgroups of the HPV type 16 genome. The HPV genome detected in all 11 PBMC samples existed as an episomal form, albeit at a low DNA copy number. Among the eight patients, seven acquired HIV from transfusion (three associated with hemophilia) and one acquired HIV through vertical transmission; this patient also had received a transfusion before sampling. Our data suggest that PBMCs may be HPV carriers and might spread the virus through blood.
 ...
PMID:Could human papillomaviruses be spread through blood? 1627 65

The term WHIM syndrome (WHIMS) is an acronym describing a rare primary immunodeficiency disorder characterized by warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis, the unusual association of neutropenia with bone marrow myeloid hypercellularity. WHIMS was recently associated with mutations in the gene encoding the chemokine receptor CXCR4 and as such is the first disease ascribed to abnormalities of chemokine signaling. We report a sporadic case of WHIMS in a woman presenting with recurrent infections and human papilloma virus-related genital dysplasia.
 ...
PMID:Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome. 1627 83

Sarcoidal (non-caseating) or tuberculoid granulomas are cutaneous manifestations of common variable immunodeficiency (CVID). In this case report, we describe a patient with CVID but with non-sarcoidal, non-tuberculoid granuloma. The 29-year-old Egyptian male patient presented with a vitiliginous patch on the chin of 1 year duration and multiple recurrent warts on the hands and feet of 8 years duration. He is a known case of CVID with chronic diarrhea, recurrent otitis media, pneumonia, purulent conjunctivitis, septic arthritis, hepato-splenomegaly, and generalized lymphadenopathy. In addition, he had evidence of multiple non-tender subcutaneous nodules predominantly juxta-articular and recurrent rheumatoid-like arthritis. The skin overlying the nodules was either normal or slightly erythematous. Laboratory findings revealed markedly reduced serum immunoglobulins (IgG 3.4, n = 7.2-16.9 g/l; IgA 0.1, n = 0.69-3.82 g/l and IgM 0.1, n = 0.63-2.77 g/l) and deficient T cell function. Histopathologic examination of a skin nodule showed well demarcated areas of fibrinoid degeneration of collagen that stain homogeneously and are surrounded by histiocytes in a palisading arrangement, suggestive of granuloma annulare. No microorganisms could be detected. Serology for rheumatoid factor and HIV infection has been persistently negative. Although most infections, including common warts responded well to intravenous immunoglobulin replacement therapy (12 g/i.v., every 2 weeks) and oral broad spectrum antibiotic therapy, the subcutaneous nodules persisted. The vitiliginous patch responded favorably and disappeared within 24 local PUVA sessions. Since skin nodules are asymptomatic, no further treatment was given.
 ...
PMID:Non-sarcoidal, non-tuberculoid granuloma in common variable immunodeficiency. 1667 8

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.
 ...
PMID:Hyper-IgE syndrome and autoimmunity in Mexican children. 1679 2

WHIM(warts, hypogammaglobulinemia, recurrent bacterial infection, and myelokathexis) syndrome is a rare immunodeficiency caused in many cases by autosomal dominant C-terminal truncation mutations in the chemokine receptor CXCR4. A prominent and unexplained feature of WHIM is myelokathexis (hypercellularity with apoptosis of mature myeloid cells in bone marrow and neutropenia). We transduced healthy human CD34(+) peripheral blood-mobilized stem cells (PBSCs) with retrovirus vector encoding wild-type (wt) CXCR4 or WHIM-type mutated CXCR4 and studied these cells ex vivo in culture and after engraftment in a nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mouse xenograft model. Neither wt CXCR4 nor mutated CXCR4 transgene expression itself enhanced apoptosis of neutrophils arising in transduced PBSC cultures even with stimulation by a CXCR4 agonist, stromal cell-derived factor-1 (SDF-1 [CXCL12]). Excess wt CXCR4 expression by transduced human PBSCs enhanced marrow engraftment, but did not affect bone marrow (BM) apoptosis or the release of transduced leukocytes into PB. However, mutated CXCR4 transgene expression further enhanced BM engraftment, but was associated with a significant increase in apoptosis of transduced cells in BM and reduced release of transduced leukocytes into PB. We conclude that increased apoptosis of mature myeloid cells in WHIM is secondary to a failure of marrow release and progression to normal myeloid cell senescence, and not a direct effect of activation of mutated CXCR4.
 ...
PMID:WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. 1694 1

We evaluated whether or not intraurethral instillation of 5-fluorouracil (5-FU) solution can rapidly, safely, and effectively eradicate intraurethral condyloma acuminata in a human immunodeficiency virus (HIV) carrier. A 43-year-old man presented with the major complaint of difficult micturition and blood dribbling from the urethral meatus for more than 6 months. He was an HIV carrier for more than 10 years and had undergone diathermy for perianal warts. Physical examination showed cauliflower lesions over the orifice of the urethra and frenulum base of the penile prepuce. Urinalysis disclosed pyuria and microscopic hematuria. Cystourethroscopy on the following day showed extensive wart lesions extending from the urethra to the bladder neck. Biopsy of the lesions was compatible with condyloma acuminata. 5-FU solution (500 mg in normal saline 50 mL) urethral instillation with massage at the ventral side of the penile shaft for 20 minutes was given once a week for 7 doses. The urine routine was normal. Management was then prescribed once a month until the lesions became invisible under urethroscopy. After 18 doses of 5-FU solution urethral instillation, no visible wart lesions were noted. He has been asymptomatic with no voiding difficulty for more than 1 year.
 ...
PMID:Pan-urethral wart treated with 5-fluorouracil intraurethral instillation. 1697 Feb 77

Since the introduction of highly active antiretroviral therapy (HAART), opportunistic infections by bacteria and fungi have been reduced in human immunodeficiency virus (HIV)-positive patients. However, diseases caused by human papilloma virus (HPV) have become more frequent despite HAART. There is an increased incidence of anal and cervical carcinomas, their precancerous lesions such as anal/cervical intraepithelial neoplasia, and condylomas and oral warts. In order to prevent anal carcinomas, HIV-positive patients should receive proctoscopic examinations regularly. The examination should include anoscopy and smears for cytology and HPV polymerase chain reaction.
 ...
PMID:[Human papilloma virus-induced disease in HIV-positive patients]. 1705 7

WHIM (warts-hypogammaglobulinemia-infections-myelokathexis) syndrome is a recently described primary immunodeficiency disorder caused by mutation of the CXCR4 chemokine receptor gene. We report here of a 6.5-yr-old girl with bacterial infections, severe chronic neutropenia, and hypogammaglobulinemia. Sequencing the CXCR4 gene revealed a c.1013C > G sequence variant suggesting WHIM syndrome. Recurrent c.1013C > G sequence variant of the CXCR4 gene resulting in p.S338X truncation mutation of this chemokine receptor protein is first reported here.
 ...
PMID:Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. 1708 43

Epidermodysplasia verruciformis (EV) is an uncommon dermatosis associated with human papillomavirus (HPV) infection in association with defects in cell-mediated immunity. Malignant transformation to squamous cell carcinoma has been associated with lesions caused by HPV-5, HPV-8, and HPV-14. Clinically, the disease may be confused with verruca plana, seborrheic keratosis, and pityriasis versicolor. We present an unusual case of EV occurring in a human immunodeficiency virus (HIV)-positive man and discuss the clinical and histologic findings. Clinically, the patient had 1- to 3-mm hypopigmented smooth macules covering the entire body. Histopathologic examination of the skin biopsy results demonstrated enlarged keratinocytes with prominent blue-gray cytoplasm and clumping of keratohyalin granules within the granular layer of the epidermis. Although EV typically is viewed as a disease of childhood, sometimes presenting in patients with a family history of the disease, it rarely may be seen in immunocompromised adults.
 ...
PMID:Epidermodysplasia verruciformis occurring in a patient with human immunodeficiency virus: a case report. 1750 Mar 79


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>