CD4 deficiency in myelodysplastic syndrome with monosomy 7

Abstract We describe a patient with myelodysplastic syndrome with monosomy 7 presenting with a T-cell defect. He suffered from infections from the age of 10 years, when a CD4 deficiency and impaired lymphoproliferative responses in vitro were found. The only symptom of a myelodysplastic syndrome at that time was thrombocytopenia with giant platelets. Monosomy 7 was found in the bone marrow cells. At the age of 11 years he developed other characteristics of monosomy 7 including splenomegaly and anaemia. Some months later leukaemia was diagnosed.Conclusion In non-HIV CD4 deficiency myelodysplastic syndrome has to be considered.     

The potential role of occupational therapy in acute care with clients with HIV/AIDS

As medical interventions aimed at prolonging the lives of people with Human Immunodeficiency Virus (HIV) and Acquired Immunodeficiency Syndrome (AIDS) are implemented, HIV/AIDS is evolving into a chronic disease with associated disability. People with HIV/AIDS can experience numerous occupational performance problems and occupational therapists need to examine and develop their role in helping to meet the needs of this population. Acute-care occupational therapists work with clients with HIV/AIDS who experience multiple admissions and who present with varying levels of occupational function. This paper outlines the potential role of occupational therapy in acute care with clients with HIV/AIDS using the Model of Occupational Performance (Canadian Association of Occupational Therapists, 1991) as a conceptual framework. The results of a retrospective chart review that investigated the role of two occupational therapists working with clients with HIV/AIDS in an acute-care setting are presented and compared with the potential role. Practice and research recommendations to address the discrepancies between the potential and present role are presented. Copyright © 1998 Whurr Publishers Ltd.     

Early onset agammaglobulinaemia with monoclonal IgG production

Two patients are described with X-linked agammaglobulinaemia (XLA). After a period of gammaglobulin infusions endogenous IgG production appeared to resume and gammaglobulin therapy was gradually stopped. However, bacterial respiratory tract infections recurred. Immunological evaluation showed normal levels of serum IgG with mono/ oligoclonal IgG m-bands, while B lymphocytes and plasma cells were absent from the peripheral blood and bone marrow. Endogenous IgG was synthesized in plasma cells in the submucosa of the gastrointestinal tract. Renewed high doses of exogenous gammaglobulin led to the reduction of infections and the disappearance of mono/oligoclonal m-bands in the serum. We suggest that as a rare complication of XLA some pre-B-cells may escape the blockade to B-cell maturation and produce mono/oligoclonal IgG, possibly due to chronic infectious stimulation.Abbreviations Ig immunoglobulin - XLA X-linked agammaglobulinaemia     

The association between immunodeficiency and congenital heart disease

Summary The predilection of children with congenital heart disease (CHD) to infection may be explained in part by an underlying immunodeficiency disorder. Some 13 syndromes in which immunodeficiency and CHD may coexist have been reported in the medical literature. In addition, immunoglobulin and T-cell deficiencies have been found in nonsyndromal patients with CHD. The diagnosis of immunodeficiency should be entertained in such children, as early recognition of an immunodeficiency disorder can result in improved antimicrobial and immunological management.     

Cardiac Thrombus in Omenn Syndrome

Omenn syndrome is characterized by a generalized erythematous skin rash, lymph node enlargement, hepatosplenomegaly, Increased serum IgE levels, eosinophilia, and evidence of severe combined immune deficiency. Patients develop fungal, bacterial, and viral infections. We present the case of a 3-month-old girl with Omenn syndrome who developed right ventricular thrombosis. Echocardiographic study revealed a round structure that filled the apex and corpus of the the right ventricle. We investigated this patient for hypercoagulation and made a diagnosis of ventricular thrombosis, which is an uncommon finding in Omenn syndrome.     

Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infection

Disseminated BCG infection is a rare complication of vaccination that occurs in patients with impaired immunity. In recent years, a series of inherited disorders of the IL-12-IFN- axis have been described that predispose affected individuals to disseminated disease caused by BCG, environmental Mycobacteria, and non-typhoidal Salmonella. The routine immunological work-up of these patients is normal and the diagnosis requires specific investigation of the IL-12-IFN- circuit. We report here the first two such patients originating from and living in Iran. The first child is two years old and suffers from complete IFN- receptor 2 deficiency and disseminated BCG infection. He is currently in clinical remission thanks to prolonged multiple antibiotic therapy. The other, a 28-year-old adult, suffers from IL-12p40 deficiency and presented with disseminated BCG infection followed by recurrent episodes of systemic salmonellosis. He is now doing well. A third patient of Iranian descent, living in North America, was reported elsewhere to suffer from IL-12R1 deficiency. These three patients thus indicate that various inherited defects of the IL-12-IFN- circuit can be found in Iranian people. In conclusion we recommend to consider the disorders of the IL-12-IFN- circuit in all patients with severe BCG infection, disseminated environmental mycobacterial disease, or systemic non-typhoidal salmonellosis, regardless of their ethnic origin and country of residence.     

Dental and oral lesions in HIV infected patients: a study in Brazil

AIM: To determine the prevalence of dental and oral lesions, as well as treatment need, in a group of HIV sero-positive Brazilians. In addition, to test the association between oral manifestation of HIV infection and age, sex, mode of transmission and drug therapy. METHOD: All HIV seropositive patients attending a dedicated dental clinic in Recife were invited to participate in the study. They were all examined by one trained and calibrated examiner and interviewed by one trained interviewer. RESULTS: 161 of 204 patients (78.9%) agreed to participate in this study. Most of the participants were male (76%), had acquired HIV sexually (74.5%), and were taking some form of antiretroviral therapy (70.8%). 33.5% had one or more oral manifestation of HIV. Candidiasis was the most common (28.6%), followed by hairy leukoplakia (9.3%), Kaposi sarcoma (2.5%), ulceration (2.5%), herpes simplex (1.2%), papiloma (0.6%), and 4.4% had periodontal disease. Only 1.2% reported xerostomia. There were no differences in the prevalence of oral manifestations of HIV infection between age groups, sexes, modes of transmission and types of drug therapy (P>0.05). The mean DMF-T score was 19 (SD 8) and 78.9% needed some form of dental treatment. CONCLUSIONS: While the prevalence of oral manifestations of HIV/AIDS was low in this sample of HIV seropositive Brazilians, dental status was poor and need for dental treatment was high.     

Janus kinase-3 (JAK3) inhibition: a novel immunosuppressive option for allogeneic transplantation

Current immunosuppressive therapy in clinical organ transplantation is based on drugs that suppress various functions of immunocompetent cells but still affect cells and organ compartments other than the immune system. Hence, these drugs have considerable side effects which lead to increased morbidity and reduced life-quality of transplant recipients. A major step forward in the rationale design of clinical immunosuppression resides in the elucidation of molecular targets that play a critical role specifically within the immune system. Recently, Janus kinase 3 (JAK3) has been identified as such a molecule. Genetic absence or ablation of this tyrosine kinase is associated with defective T-cell immunity that results in severe combined immunodeficiency (SCID) without apparent changes in other organ systems. Furthermore, pharmacological inhibition has significantly prolonged allograft survival in several experimental models of organ transplantation. The present review provides an overview of the emerging role of JAK3 in the immune system and the development of JAK3-inhibiting drugs. The potential clinical application of JAK3 inhibitors in organ transplantations is discussed in the light of a recent series of successful kidney transplantations in non-human primates immunosuppressed solely with a novel JAK3 inhibitor.     

First demonstration of a lack of viral sequence evolution in a nonprogressor,defining replication-incompetent HIV-1 infection

It is universally acknowledged that genetic diversity is a hallmark of HIV-1 infection, and it is one of the traits that has considerably hampered the development of an effective vaccine. In a study of full-length HIV-1 genomic sequences (>9 kb), we show unique evidence for complete absence of viral evolution in an individual with truly nonprogressive infection. Gross gene defects were not detected, but the state of replication incompetence was attributed to the presence of stop codons in the structural genes gag p17 and p24 and in pol RT, which emerged as a consequence of G-A hypermutation. These inactivating mutations may have occurred early, soon after infection, during the clonal stage of primary viral replication, since these are the sole archival strains present today. This genetic homogeneity, with <1% variation between strains over an 8-year period, suggests that only limited proviral integration events occurred in this patient. Further study on the antigenic properties of this strain may assist in the development of HIV vaccines and therapeutics.