Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.

Purine nucleoside phosphorylase (PNP) deficiency results in an autosomal recessive immunodeficiency disease characterized by initial involvement of cellular immunity and neurological manifestations with subsequent abnormalities of humoral immunity. The initial presentation and clinical course has varied widely in the relatively few published cases. The molecular basis has been reported in only 10 patients, precluding evaluation of phenotype-genotype relationships.

HIV type 1-specific IgE in serum of long-term surviving children inhibits HIV type 1 production in vitro.

We previously identified a group of long-term pediatric survivors who had acquired HIV-1 through maternal transmission; had not received antiretroviral therapy; are now >8 years old, in good health, and with no opportunistic infections; and have not failed to thrive, although they have greatly decreased numbers of blood CD4+ T cells (<500/mm(3)). All the children have elevated total serum IgE levels (210-2475 IU/ml) and make anti-HIV-1 IgE or IgE directed against non-HIV-1 specificities (radioimmunoassay, Western blot assay); they have no detectable antigenemia. We have now studied the ability of anti-HIV-1 IgE in serum obtained from these children to regulate (1) production of HIV-1 by interleukin 2/phytohemagglutinin (IL-2/PHA)-stimulated peripheral blood mononuclear cells (PBMCs) taken from HIV-1-seronegative donors and infected with a T cell-tropic clone of HIV-1, and (2) transmission of a primary HIV-1 strain from adult AIDS patients to uninfected IL-2/PHA-stimulated PBMCs (p24 core antigen production).

New onset diabetes mellitus in an HIV-positive adolescent.

The authors report an 18-year-old girl with HIV infection who developed new-onset insulin-dependent diabetes mellitus (IDDM) in association with anemia. IDDM among patients with HIV infection has been infrequently reported and suggested to be caused by different etiologies. Susceptibility to autoimmune diseases, such as IDDM, has been associated functionally with two members of a newly described multigene family called PERB11.

Cytofluorometric analysis of the neutrophil-specific BH2-Ag on cells from neonates to adults.

Monoclonal antibody (MAB) BH2C6 recognizes a plasma membrane antigen, the BH2-Ag, specifically expressed by human neutrophils. While studies with peripheral blood and bone marrow from healthy adults clearly demonstrate the absence of BH2-Ag from other cellular components except neutrophils, they also indicate that the BH2-Ag is expressed more strongly by mature than immature neutrophils. The purpose of this study was to determine the expression of the BH2-Ag by peripheral blood neutrophils from premature newborns to adults.

Tuberculosis in human immunodeficiency virus-infected and human immunodeficiency virus-exposed children in New York City. The New York City Pediatric Spectrum of HIV Disease Consortium.

Background: Tuberculosis disease incidence increased sharply in New York City (NYC) in the late 1980s in children and adults. The relationship of tuberculosis disease in adults with the coincident epidemic of immunosuppression caused by HIV disease has been well-documented. This paper examines the relationship of tuberculosis and HIV in children in NYC.

Expression of Fc(gamma)r1 (CD64) on polymorphonuclear leucocytes during progression to acquired immunodeficiency syndrome in perinatally human immunodeficiency virus-infected children.

CD64, the high-affinity receptor in the family of FCgamma receptors, is not expressed constitutively in polymorphonuclear leucocytes (PMN). CD64 is expressed by PMNs in the late stages of human immunodeficiency virus (HIV) infection in adults. We followed the expression of CD64 on PMNs in perinatally HIV-infected children during disease progression.

Selective binding of a monoclonal antibody to Aspergillus niger glucose oxidase by formaldehyde fixed human polymorphonuclear leukocytes.

Background: Many of the procedures used in handling neutrophils may affect the expression of surface antigens, and hence their quantitation by flow cytometry.

Methods: Because the enzyme glucose oxidase of Aspergillus niger is absent in human tissues, an IgM against it (mAb GO) was used as negative control in a study involving the normal expression of neutrophil specific BH2-Ag in different age groups.

Results: When peripheral blood leukocytes (PBL) were freshly prepared, processed and stained with FITC-mAb GO without fixation or when the cells were stained with FITC-mAb GO prior to fixation with 2% formaldehyde, both median fluorescent intensity (MFI) and per cent of positively stained polymorphonuclear leukocytes (PMN) were similar to that obtained with a background sample without any antibody.

Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia.

Various factors seem to be etiologic in the susceptibility to sinopulmonary infections in ataxia-telangiectasia (A-T) patients, i.e., low serum and salivary IgA, low serum IgG2, and even aspiration of saliva.

Ceftriaxone-related fatal hemolysis in an adolescent with perinatally acquired human immunodeficiency virus infection.

A 14-year-old girl with perinatally acquired human immunodeficiency virus infection had fatal intravascular hemolysis after intravenous administration of ceftriaxone. Laboratory studies confirmed the presence of an antibody against ceftriaxone in the serum and on the patient's red blood cells. No evidence of sepsis, glucose-6-phosphate dehydrogenase deficiency or anaphylaxis was found.

Varicella-zoster virus infection in children with underlying human immunodeficiency virus infection.

This article describes a prospective longitudinal study of varicella-zoster virus (VZV) infections in human immunodeficiency virus (HIV)-infected children, designed to determine their natural history of VZV infection and possible effects of VZV on the progression of HIV infection. Varicella was usually not a serious acute problem, and it did not seem to precede clinical deterioration. The rate of zoster was high: 70% in children with low levels of CD4+ lymphocytes at the time of development of varicella.

IgE against HIV proteins in clinically healthy children with HIV disease.

Elevated serum Ige was detected in 26% (7 of 30) of children with HIV infection. The majority of children with elevated IgE were of one ethnic group (Puerto Rican) (4 of 7), compared with only 9% (2 of 23) in the normal to low IgE group (p = 0.02).

Childhood AIDS nephropathy: a 10-year experience.

The objective of this study was to define the demographic, immunologic, and clinical characteristics of children with acquired immunodeficiency syndrome (AIDS) and AIDS nephropathy, and contrast this with the existing adult data. Data from 62 pediatric patients with AIDS who were treated at SUNY Health Science Center, Brooklyn, New York, between 1983 and 1993 were analyzed. Human immunodeficiency virus (HIV) infection was acquired during the neonatal period by vertical transmission (n = 60) or blood transfusion (n = 2).

Randomized study of the tolerance and efficacy of high- versus low-dose zidovudine in human immunodeficiency virus-infected children with mild to moderate symptoms (AIDS Clinical Trials Group 128). Pediatric AIDS Clinical Trials Group.

The current dosage of zidovudine for children is 180 mg/m2 every 6 h. To investigate whether a lower dosage was equally effective, human immunodeficiency virus (HIV)-infected children (3 months to 12 years) with mild to moderate symptoms were randomly assigned to receive either high-dose (180 mg/m2/dose) or low-dose (90 mg/m2/dose) zidovudine (double-blind). Treatments were compared with respect to neuropsychologic function, survival, clinical and laboratory evidence of disease progression, and safety and tolerance.

Effect of naftifine on neutrophil adhesion.

Effective methods of fungal treatment involve reduction in fungal infections and host inflammatory responses. Naftifine (NF), a topical antifungal agent, is highly active in vitro and in vivo against a wide range of pathogenic fungi. Additionally NF has been shown to inhibit polymorphonuclear leukocyte (PMN) chemotaxis and respiratory burst activity in an irreversible dose-dependent and time-dependent manner.

Cerebral infarction in pediatric acquired immunodeficiency syndrome.

Cerebral infarction is an uncommon complication of AIDS in pediatric patients. We have seen three HIV-infected children who developed acute neurological deficits due to stroke. Cerebral infarction must be considered in the work-up of a child with AIDS who presents with focal neurological deficit, seizure or mental status change.

Modification of neutrophil functions by naftifine.

Naftifine (NF), a topical antimycotic agent, is highly active in vitro and in vivo against a wide range of pathogenic fungi. NF inhibits human polymorphonuclear leucocyte (PMN) chemotaxis. Following stimulation with zymosan-activated serum, 85-97% of the PMNs exhibited detectable membrane ruffling and polarity.

Aspergillosis in children with acquired immune deficiency.

Two children are presented with AIDS and aspergillosis. One child had pulmonary involvement while the other had invasion of the skull and brain. The rarity of aspergillosis in AIDS patients is discussed as well.

Nephrotic syndrome associated with acquired immunodeficiency syndrome in children.

We report here the cases of 15 children in whom nephrotic syndrome developed, from among 164 children (55% male, 90% black) followed in our acquired immunodeficiency syndrome clinic from 1984 through 1990. Mean age at onset of nephrotic syndrome was 4.9 +/- 2.

Acyclovir-resistant varicella zoster virus infection after chronic oral acyclovir therapy in patients with the acquired immunodeficiency syndrome (AIDS).

Four patients with human immunodeficiency virus (HIV) infection who received chronic oral acyclovir therapy for suppression of recurrent varicella zoster or herpes simplex virus infection developed persistent disseminated hyperkeratotic papules that failed to heal with intravenous or high-dose oral acyclovir therapy. Varicella zoster virus, resistant to acyclovir in vitro, was isolated from skin lesions of all four patients. Three patients were adults in whom the acquired immunodeficiency syndrome (AIDS) had been diagnosed 12 to 20 months before isolation of acyclovir-resistant varicella zoster virus.