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Deficiency of red cell and lymphocyte adenosine deaminase (ADA) was found in children suffering from congenital combined immunologic deficiency. The parents had ADA levels intermediate between patients and controls. Complete lack of ADA activity was not found in normal subjects or in patients with a variety of other immunologic deficiency diseases.
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A definite relation between ozaena and iron deficiency disease could not be verified. However, the examination of 88 patients with severe iron deficiency disease, mostly of juvenile age, revealed that X-ray pictures of the nose and the paranasal sinuses showed abnormal alterations indicating the existence of a non-inflammatory process. There were few symptoms from the nose and the neighbouring structures as well as insignificant clinical findings by inspection of these structures. The increased opacity of the maxillary sinuses on the roentgenograms and some other changes are considered to be partially due to the insufficient pneumatisation which is related to the retarded development and maturation of juvenile patients with iron deficiency disease. Furthermore, it is caused by the enlargement and thickening of the facial bones resulting from the expansive growth of the hyperplastic and hypertrophic red marrow filling completely the cancelous substance. The space of the maxillary sinuses is narrowed in many cases, the penetration power of the X-ray diminished and the clearing effect of the air containing cavities decreased.
A new form of hexosaminidase deficiency disease is characterized clinically by mild, juvenile-onset, very slowly progressive cerebellar ataxia with macular cherry-red spots and absence of other findings. Biochemically there is striking hexosaminidase deficiency in serum, leukocytes, and fibroblasts. Hexosaminidase B appears absent, but hexosaminidase A-like and S-like activity is present on starch-gel electrophoresis. We studied hexosaminidase in leukocytes and serum from members of an affected patient's family and traced the enzyme defect through four generations. Leukocyte heat-stabile hexosaminidase in obligate and presumptive carriers was depressed both in specific activity (nanomoles per milligram of protein per hour) and as a percentage of total hexosaminidase. The carrier state was expressed in serum, but overlap with controls made this test unreliable. The similarity of these carriers to carriers of Sandhoff disease suggests that the disorders may be closely related, perhaps as allelic mutations of the hexosaminidase beta subunit. Those involve with screening for Tay-Sachs disease should be aware that persons with an increased percentage of hexosaminidase A--that is, a decreased heat-stabile fraction--may be carriers of hexosaminidase deficiency diseases.
Mutant acatalasemic mice provide a prototype of congenital enzyme deficiency disease. Normal blood catalase levels were achieved permanently in congenitally acatalasemic mice by transplantation of bone marrow cells from congeneic normal catalasemic mice using relatively small numbers of cells following whole body irradiation. The increase in blood catalase activity was physiologically effective as demonstrated by the protection of the previously acatalasemic mice against the otherwise lethal effects of hydrogen peroxide injections. Bone marrow transplantation has the potential to provide a continuous source of some enzymes and may be applicable as treatment for certain congenital enzyme deficiency diseases.
During a 3-year period, 50 cases of Pneumocystis carinii pneumonia in children less than 5 years old were reported to the Parasitic Disease Drug Service, Center for disease Control. Primary immune deficiency diseses constituted the most frequent underlying diseases in patients less than 1 year old (24/29 cases, 83%), whereas acute lymphatic leukemia was the most common underlying diseases in children 1-4 years old (17/21 cases, 81%). Severe combined immunodeficiency was the most common type of immune deficiency disease (15/25 cases, 60%). Six (24%) of the immunodeficient patients each had a sibling who died during infancy of an immunologic deficiency disease and P. carinii penumonia. Although the pathogenesis of the association between immune deficiency and P. carinii pneumonia is poorly understood, defects in both humora and cellular immunity appear to be operative.--Natl Cancer lst Monogr 43: 65-72, 1976.
Marshak has emphasized the role of the gastrointestinal tract as a major immunologic organ and described the radiologic findings of immunoglobulin deficiency diseases of the small intestine. According to his classification the radiologic findings include multiple nodular defects, edema and increased secretions associated with Giardiasis, a sprue-like pattern, and thickened folds. In this report, the role of the intestine in the immune response is briefly reviewed and several of the radiologic features of immune deficiency diseases and those of benign nodular lymphoid hyperplasia are illustrated.
Evidence that schizophrenia may be a prostaglandin deficiency disease comes from three main sources: (1) all effective antischizophrenic drugs stimulate prolactin secretion and prolactin is a potent stimulator of prostaglandin synthesis; (2) schizophrenics are resistant to pain and inflammation and are free of rheumatoid arthritis and there is increasing evidence that prostaglandins play important roles in pain, inflammation, and rheumatoid arthritis; (3) high doses of drugs recently shown to be prostaglandin antagonists cause schizophrenia-like syndromes. The hypothesis is not necessarily inconsistent with current transmitter theories of schizophrenia since prostaglandins modify transmitter secretion and action. It does indicate radically new approaches to investigation, treatment, and drug design not suggested by the transmitter concepts.
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Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) are two recessively transmitted human diseases characterized by DNA repair deficiency. While XP is associated with a very high incidence of cancer on skin exposed to sunlight, TTD is not a cancer-prone disease. Therefore, unrepaired UV-induced DNA lesions do not appear to be enough to give rise to tumors. In order to understand the differences between these two syndromes, we measured catalase activity in cellular extracts, UV irradiated or not, and quantified H2O2 production following in vitro UV irradiation. We confirmed on 21 different XP diploid fibroblast lines that catalase activity was decreased on average by a factor of five as compared to controls, while XP heterozygote lines exhibited intermediary responses. All seven TTD lines we tested were deficient in UV-induced lesion repair and exhibited a high level of catalase activity. However, molecular analysis of catalase transcription showed no difference between normal, XP and TTD cell lines. This was confirmed by Western blots where the amount of catalase subunits was identical in all cell lines studied. Finally, UV irradiation induces five and three times more H2O2 production in XP lines compared with TTD or controls respectively. These striking differences between TTD and XP indicate that UV light, directly or indirectly, together with defective oxidative metabolism may increase the initiation and/or the progression steps in the XP environment compared to TTD. This may partly explain the different tumoral phenotype observed between the two diseases.
New immunological data (Brit. med. J., 1976, 1, 183-186) lead us to a fundamental reconsideration of the immunopathological concept of multiple sclerosis (MS). The increased incidence of the infection rate during childhood, the low humoral and cell-mediated immune responses towards many bacterial and viral antigens and the presence of these specific immune deficiencies in a group of doubtful MS cases being at the first bout of the disease, led us to consider MS as a multi-specific immune deficiency disease, possibly having its origin in the genes controlling the immune response to these specific antigens. We now consider MS as being the end result of multi-specific immune deficiencies, which would explain the increased incidence of tonsillectomies, appendicectomies and repeated infections during childhood and the presence of numerous small inflammatory and pyrexic processes, often benign, but susceptible to cause in the target tissue--the central nervous tissue--the demyelinization process which could well be not specific at all. This new optic opens the way to the use of different immunotherapy regimens including transfer factor or whole lymphokines, and stimulation of the immune response with immunological adjuvants rather than immunosuppressive agents used during recent years (like steroids, ACTH) which have an antiinflammatory as well as an immunosuppressive function.
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