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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maternal postpartum depression poses significant risks for mother-child interaction and long-term infant outcomes. Human immunodeficiency virus (HIV) status has also been implicated in the development of postpartum depression, but the association between maternal depression and infant social behavior in the context of HIV infection has not been fully investigated. First, we examined the relationship between maternal postpartum depression and infant social withdrawal at 10-12 months of age in HIV-infected mothers and infants. Second, we ascertained whether infant social withdrawal could be significantly predicted by maternal postpartum depression. The sample consisted of 83 HIV-infected mother-infant dyads. Mothers were assessed for postpartum depression with the Edinburgh Postnatal Depression Scale (EPDS), and infant social withdrawal behavior was rated using the Modified Alarm Distress Baby Scale (m-ADBB). 42.2% of the mothers scored above the cut-off point for depression on the EPDS, and a third of infants (31%) were socially withdrawn. Notably, maternal depression did not predict infant social withdrawal as measured by the m-ADBB. Infant social withdrawal was also not significantly associated with failure to thrive or gender. These preliminary findings need further investigation with respect to the impact on long-term neurodevelopmental and behavioral outcomes.
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PMID:Maternal postpartum depression and infant social withdrawal among human immunodeficiency virus (HIV) positive mother-infant dyads. 2048 Apr 33

Typical cases of severe combined immunodeficiency present at infancy (most frequently at 6 months of age) with repeated opportunistic infections; failure to thrive; and scarcity of lymphoid tissues, including undetectable lymph nodes and a small dysplastic thymus. Patients with profound T-cell dysfunction (PTD)/combined immunodeficiency (CID) have moderate to large numbers of circulating autologous lymphocytes with variable residual function. These cells may interfere with proper engraftment and may complicate the procedure of HSCT, hence the need for conditioning. There is no immediate explanation for the excellent outcome of hematopoietic stem cell transplantation (HSCT) for PTD/CID. Historically, protocols for mismatched related donor HSCT did not include conditioning regimens, which could jeopardize engraftment. Careful studies on the role of conditioning, especially myeloablative conditioning, should be conducted in the future. It is possible that in some genotypes, related identical donor can be accepted by the recipient with little or no conditioning. Until such studies become instructive, the protocols in current use seem to provide excellent, although not perfect, outcome in patients with PTD/CID.
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PMID:Hematopoietic stem cell transplantation for profound T-cell deficiency (combined immunodeficiency). 2049 97

Cartilage-hair hypoplasia (CHH) is a rare autosomal-recessive disorder characterized by short-limbed dwarfism, sparse hair, and immune deficiency. It is caused by mutations in the RMRP gene, which encodes the RNA component of the mitochondrial RNA-processing ribonuclease (RNase MRP). Several mutations have been identified in its promoter region or transcribed sequence. However, homozygous mutations in the promoter region have been only reported in a patient with primary immunodeficiency without other features of CHH. We report on a Thai girl who first presented with chronic diarrhea, recurrent pneumonia, and severe failure to thrive, without apparently disproportionate dwarfism. The diagnosis of CHH was made after the severe wasting was corrected, and disproportionate growth became noticeable. The patient had the typical features of CHH, including sparse hair and metaphyseal abnormalities. The immunologic profiles were consistent with combined immune deficiency. Mutation analysis identified a novel homozygous mutation, g.-19_-25 dupACTACTC, in the promoter region of the RMRP gene. Identification of the mutation enabled us to provide a prenatal diagnosis in the subsequent pregnancy. This patient is the first CHH case with the characteristic features due to the homozygous mutation in the promoter region of the RMRP gene. The finding of severe immunodeficiency supports that promoter mutations markedly disrupt mRNA cleavage function, which causes cell-cycle impairment.
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PMID:An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. 2106 72

Invasive candidiasis is rare in children after the neonatal period, but can occur in children with (secondary) immunodeficiency with a damaged gastrointestinal or skin barrier, or when receiving antibiotics. A 10-month-old girl was diagnosed as suffering from cystic fibrosis (CF) when showing failure to thrive, pulmonary symptoms and hypoproteinaemia. At that time, Candida albicans was identified from blood culture and treated intravenously with liposomal amphotericin B for 13 days. Six weeks later, the girl presented with osteoarticular infection of the left knee caused by C. albicans. The infection showed insufficient response to therapy with liposomal amphotericin B, but the patient recovered after therapy with fluconazole and flucytosine. Follow-up over 4 years revealed no sequelae. In conclusion, invasive Candida infections may occur in patients with CF, and preventive measures might be considered in patients at risk. In the case of an invasive infection, prolonged treatment with a combination of antifungal drugs may be required.
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PMID:Osteoarticular infection by Candida albicans in an infant with cystic fibrosis. 2159 11

Disseminated Mycobacterium tuberculosis with involvement of liver, spleen, and bone marrow is a nonspecific and rare complication in human immunodeficiency virus (HIV) infected infants. Here, we report a six month old girl with fever, recurrent infections, bilateral axilary lymphadenitis, hepatomegaly, huge splenomegaly, and failure to thrive per the Center for Disease Control category of C for AIDS. The infant and her mother had positive enzyme immunoassay (EIA) and Western blot. HIV DNA PCR test of the infant was positive with subtype A (A1) in genotyping. A positive bone marrow aspirate staining for acid fast bacilli and PCR test on culture revealed Mycobacterium tuberculosis.
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PMID:Disseminated Mycobacterium tuberculosis in an infant with AIDS. 2172 11

Since its first description by Vici et al. [1988], further reports have continued to broaden the clinical phenotype of this rare multisystem disorder. Main features of agenesis of corpus callosum (ACC), hypopigmentation, immunodeficiency/recurrent infections, cataracts, severe failure to thrive, and profound psychomotor delay have been reported in all cases. An additional feature is the recent evidence for neuromuscular involvement. We describe a female infant with the above core features in whom an initial rapid neurological deterioration and associated transient left ventricular hypertrophy and liver dysfunction was followed by relative clinical stability after ten months of age. This case further underlines the clinical phenotype of Vici syndrome as an early onset neurodegenerative disorder with hypopimentation, recurrent infections and muscle findings indicating myopathic and neurogenic features.
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PMID:Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. 2196 79

The 10 warning signs of primary immunodeficiency are being promoted as a screening tool for use by both the general public and physicians. A recent study, however, shows that except for family history, need for intravenous antibiotics and failure to thrive, the 10 warning signs are not a useful screen of primary immunodeficiency diseases (PIDs). Over the last few decades, there has been a revolution in our understanding of PID. The 10 warning signs do not take into account the fact that PIDs now include diseases that present with sporadic infections, autoimmunity, autoinflammation, and malignancy. This review focuses on the advances in our understanding of PID, the current limitations of the 10 warning signs, and recommendations to ensure that patients with PID are diagnosed in a timely fashion in the future.
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PMID:Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. 2212 48

Primary immunodeficiency disorder (PID) refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of PIDs are highly variable, most disorders involve at least an increased susceptibility to infection. Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity and, therefore, consultation with a clinical immunologist is essential. PIDs should be suspected in patients with: recurrent sinus or ear infections or pneumonias within a 1 year period; failure to thrive; poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. Patients with multiple autoimmune diseases should also be evaluated. Diagnostic testing often involves lymphocyte proliferation assays, flow cytometry, measurement of serum immunoglobulin (Ig) levels, assessment of serum specific antibody titers in response to vaccine antigens, neutrophil function assays, stimulation assays for cytokine responses, and complement studies. The treatment of PIDs is complex and generally requires both supportive and definitive strategies. Ig replacement therapy is the mainstay of therapy for B-cell disorders, and is also an important supportive treatment for many patients with combined immunodeficiency disorders. The heterogeneous group of disorders involving the T-cell arm of the adaptive system, such as severe combined immunodeficiency (SCID), require immune reconstitution as soon as possible. The treatment of innate immunodeficiency disorders varies depending on the type of defect, but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and bone marrow transplantation. This article provides a detailed overview of the major categories of PIDs and strategies for the appropriate diagnosis and management of these rare disorders.
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PMID:Primary immunodeficiency. 2216 13

Purine nucleoside phosphorylase (PNP) deficiency is an immunodeficiency disorder characterized by recurrent infections, failure to thrive and neurologic symptomatology. While enzyme replacement therapy (ERT) is a therapeutic option for adenine deaminase (ADA) deficiency, a similar disorder, this is not available for PNP deficiency, and bone marrow transplant (BMT) is the only treatment option. Moreover, even with BMT, improvement of neurological deficits is not definite. We describe a 16-month-old boy who underwent BMT for PNP deficiency which resulted not only in freedom from infections but also in neurological improvement and autologous T-cell recovery.Pre-transplant, this child had severe lymphopenia with recurrent infections and psychomotor retardation. Post-transplant, in the presence of mixed chimerism, he had normal lymphocyte count, including presence of recipient T cells and neurological improvement. The re-emergence of recipient T cells, when there were virtually no such cells pre-transplant, and the neurological improvement are indicative of improvement of the enzyme deficiency in tissues which remain genetically enzyme depleted.These defects are not directly corrected by BMT, but are due to delivery of the missing enzyme by the transplanted tissue. In this aspect, transplantation in PNP deficiency is similar to transplantation in other inborn errors of metabolism where the engrafted donor cells deliver enzyme and restore function to deficient tissues. This further lends support to the recommendations that BMT should be the favoured treatment option in disorders like ADA deficiency or Hurler syndrome, where, even though ERT is available, it is limited by inability to correct the central nervous system defects.
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PMID:Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide enzyme to residual enzyme-deficient recipient cells. 2343 Sep 37

Primary Immunodeficiencies (PIDs), although rare, are serious and heightened clinical suspicion leads to earlier diagnosis and improved outcome. Recognition of PIDs may be difficult as infections are common in young children in particular. Clues to the diagnosis of PID may be found in history, examination and initial basic investigations such as lymphocyte count. Age at presentation, type of infective organism and family history help focus on likely PIDs. Type of infective organism may indicate a specific PID, for example Aspergillus and Chronic Granulomatous Disease and Pneumocystis Jiroveci and SCID amongst others. Diagnostic aids such as 'The 10 Warning Signs of Primary Immunodeficiency' can be useful with failure to thrive, need for IV antibiotics, and family history of severe or unusual infections being the most discriminating. Systemic examination including the recognition of dysmorphic features may also support a particular diagnosis.
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PMID:When to think of immunodeficiency? 2365 66


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