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PubMed1986

Results in two infants with the DiGeorge syndrome--effects of long-term TP5.

We treated two patients affected by DiGeorge syndrome with long-term administration of the synthetic thymic hormone thymopoietin (TP5). In both cases we obtained durable immunological reconstitution, starting as early as 2 weeks after beginning of TP5 treatment. High levels of circulating immature thymocytes and precursor T cells (defined by monoclonal antibodies OKT6, OKT9, and OKT10) were present prior to therapy, and they steadily decreased during the first few weeks of study. During the same time, phenotypically mature T lymphocytes (OKT3+ and OKT4+/OKT8+) markedly increased, thereafter remaining at near normal levels. OKT10+ cells appeared to rise again after 3 months of TP5 treatment. In vitro function of T cells, assessed by PHA stimulation, and in vivo cell-mediated immunity (skin tests with Candida) were normal at 3 and at 2 months, respectively, after initiation of therapy. No severe infection episodes were recorded and normal development was achieved. No side effect or adverse reaction occurred. In these two patients the other features of the DiGeorge syndrome were successfully treated by early cardiac surgery and vitamin D therapy. The immunological reconstitution, in absence of functioning thymus observed in these two cases, provides further evidence of the effectiveness of long-term treatment with thymic hormones--with maintenance of the improvement of cell-mediated immunity.

Antibodies, Monoclonal↗
PubMed1985

Short trachea, with reduced number of cartilage rings--a hitherto unrecognized feature of DiGeorge syndrome.

Adequate tracheas from 6 of 14 patients with DiGeorge syndrome (2 complete and 4 partial forms) were available for tracheal ring study. The number of tracheal rings in these patients was significantly low (mean +/- SD 14.7 +/- 1.4). This is consistent with an effect of deficient blood supply to the fetal cervical region, a mechanism that has been proposed to explain the defective development of thymus and parathyroid glands in DiGeorge syndrome. To our knowledge this lesion has not been described as one of the malformations found in the syndrome. In 8 of 14 (57%) patients with DiGeorge syndrome, common origin of the carotid arteries was found, and 4 of these 8 patients showed minor tracheal compression. These findings support the proposal that abnormal blood supply to the region of the third and fourth pharyngeal arches may play a role in the pathogenesis of DiGeorge syndrome.

Adolescent↗
PubMed2005

FoxP3: a genetic link between immunodeficiency and autoimmune diseases.

It has long been observed that patients with autoimmune diseases also have immune deficiency. How these two opposite extremes of immunity can be found in the same individual is largely unclear. Here we review the evidence that a FoxP3 defect may provide a critical link between autoimmunity and immune deficiency. Disruption of FoxP3 results in severe autoimmune syndromes in both human and mice. Bone marrow chimera experiments indicate that FoxP3 defects in both hematopoietic and non-hematopoietic cells are required for the development of severe autoimmune disease. FoxP3 mutation in the hematopoietic cells impairs the development of regulatory T cells (Treg). Our data demonstrate that the mutation in non-hematopoietic cells results in deficient thymopoiesis. Defective T cell production may be an underlying cause of T cell hyperproliferation, which together with Treg defects, may lead to fatal autoimmune disease in mouse and man.

Animals↗
PubMed1987

Feline leukemia virus: current status of the feline induced immune depression and immunoprevention.

This is a review of the current knowledge of feline leukemia virus (FeLV) associated with immune depression observed in cats. It will focus on the clinical and experimental observations associated with feline retroviral infection and presence in vivo and in vitro. We will briefly describe retroviral-associated acquired immune deficiency syndrome associated with FeLV infection in the cat and specific cellular pathology associated with FeLV latency. In addition, we will focus on the action of FeLV-p15E in vitro and describe possible mechanisms of the FeLV-associated immunosuppression observed both in vivo and in vitro. Lastly, we will evaluate the current status of immunoprevention of FeLV. We will not attempt an in-depth analysis of the current literature; our focus is to review current findings as they relate to feline AIDS and immunotherapy.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Thyrocalcitonin-containing cells in the Di George anomaly.

The Di George syndrome is an anomaly characterized by the complete or partial absence of derivatives of the third and fourth pharyngeal pouches often associated with defective development of the third, fourth, and sixth aortic arches leading to absence or hypoplasia of the thymus and parathyroid glands and to cardiovascular anomalies. The fifth pharyngeal pouch, often considered a part of the fourth pouch, gives rise to the ultimobranchial body (UB), which becomes incorporated into the thyroid gland and is thought to be the source of thyroid C cells. Robinson suggested that complete or partial absence of the UB should be considered a part of the Di George anomaly. To substantiate this theory, the thyroid glands of 11 patients with the Di George syndrome and 11 age-matched control infants were examined immunohistochemically using the immunoperoxidase technique for presence or absence of thyrocalcitonin (TC)-containing cells. Only three of 11 patients with the Di George syndrome had TC-containing cells in their thyroid glands (27 per cent), and nine of 11 control infants had these cells (82 per cent). It is concluded that thyroid C cell deficiency is present in most patients with Di George anomaly, suggesting a relationship between these cells and development of derivatives of the third through fifth visceral pouches. Furthermore, there is a spectrum of deficiency of thyroid C cells in these individuals comparable with the spectrum of partial to complete absence of third and fourth pharyngeal pouch derivatives regarding thymus and parathyroid glands. Immunostaining for TC of the lungs of all infants with the Di George syndrome and control infants revealed similar numbers of thyrocalcitonin-containing cells in both groups. Asynchronous development of thyroid and lung thyrocalcitonin-containing cells in those with the Di George syndrome favors the theory that the latter develop independently of derivatives of the third through fifth visceral pouches. This study further supports a neural crest origin of the Di George anomaly and strengthens the concept that the Di George anomaly is a neurocristopathy.

Calcitonin↗
PubMed1978

[A phenocopy of a homocygote Pelger's nuclear anomaly associated with an antibody deficiency (author's transl)].

A case of a boy is reported with an antibody deficiency syndrome type Bruton leading to a phenocopy of a homozygote Pelger's nuclear anomaly at the age of 10 months. The dominant inheritance and the absence of the anomaly in the peripheral blood of the parents and a sister support the presence of a phenocopy of this leukocyte anomaly. The recurrent bacterial infections are probably the cause of this phenocopy, since the substitution with gammaglobulins did not control the severe antibody deficiency syndrome.

Humans↗
PubMed1977

DiGeorge syndrome associated with multiple squamous cell carcinomas.

Experimental evidence and clinical experiences have have shown that immune mechanisms and cancer are closely related. A case of a 42-year-old man with DiGeorge syndrome is presented as an interesting example of an impaired immune mechanism and is described in association with multiple squamous cell carcinomas of the upper respiratory system. The congenital absence of the thymus gland in DiGeorge syndrome results in an absence of a cell-mediated immune response. There are plasma cells and germinal centers in lymph nodes, but lymphocytes in the paracortical areas are sparse. Patients wiith DiGeorge syndrome have no delayed hypersensitivity, cannot be actively sensitized with dinitrochlorobenzene, reject allografts poorly, and have no lymphocytic response to phytohemagglutinin antigens.

Adult↗
PubMed1988

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.

A fetus, subsequently shown to have the deletion 17p13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography. The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right ventricle (a conotruncal cardiac defect), and thymic hypoplasia suggesting partial DiGeorge anomaly. To our knowledge, DiGeorge anomaly has not been reported previously in conjunction with del(17p) nor in the Miller-Dieker syndrome. Since this deletion is the largest deletion of distal 17p observed so far, one explanation for this association may be the presence of a gene on proximal 17p for neural crest development.

Adult↗