No genetic defect is known to cause common variable immunodeficiency (CVID), a heterogeneous human disorder leading to adult-onset panhypogammaglobulinemia. In a search for CVID candidate proteins, we found four of 32 patients to lack ICOS, the "inducible costimulator" on activated T cells, due to an inherited homozygous deletion in the ICOS gene. T cells from these individuals were normal with regard to subset distribution, activation, cytokine production and proliferation. In contrast, naive, switched and memory B cells were reduced. The phenotype of human ICOS deficiency, which differs in key aspects from that of the ICOS-/- mouse, suggests a critical involvement of ICOS in T cell help for late B cell differentiation, class-switching and memory B cell generation.

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

Mitelman's catalogue is the only comprehensive reference book of aberrant karyotypes in malignancy. The fifth edition provides us with a staggering collection of karyotypes from more than 22 000 individual neoplasms. Drawn from 5224 references this latest edition reflects the explosive growth in this field of research in' recent years. Twelve years ago when Mitelman first identified the need for such a catalogue the total number of karyotypes was little more than 3000. The catalogue comes in two volumes with chromosomes 1-12 and 13-22XY. Cases are classified first by chromosome and are entered under each abnormal chromosome in the karyotype. It follows that any one case may appear under several different chromosomes. The relative contribution of solid tumour entries in this edition is 27% of cases compared with 12% of entries in 1983. Clearly solid tumours are still underrepresented in terms of their natural incidence but the extreme complexity of many solid tumour karyotypes (the record being held by a fibrosarcoma karyotype with no less than 1051 characters) means their contribution to the catalogue is substantial. Apart from bringing the number of cases up to date this edition describes every karyotype according to the most recent terminology, namely the International System for Cytogenetic Nomenclature 1991. The number of karyotypes investigated by molecular techniques for genetic rearrangements or fusion genes and described at the end of each chromosomal section has also been updated. Entries are subclassified by types of disease which include 46 haematological disorders, 35 malignant lymphomas and 98 benign and malignant solid tumours. Drawn from all over the world, cases are taken from publications in more than 30 scientific journals. The geographical distribution of cases reflects national or local interest in cytogenetics. In this context, it is of interest that the largest contributing continent is Europe and that the UK features fourth largest among contributing countries or states. Over the past 25 years many clinically important chromosomal subgroups have been detected within morphologically identical types of malignant disorder. Their identification has resulted from the drawing together of large numbers of individual cases. Nevertheless, the numbers of aberrant karyotypes found in any series of any one tumour type are many and various. The overwhelming impression is one of diversity. New subgroups only emerge when newly described cases can be checked against previously published cases and here the catalogue is indispensible. Chromosomal aberrations in human cancer highlight regions of the genome …

Catalog of Chromosome Aberrations in Cancer

From a mid-maturation seed cDNA library we have isolated cDNA clones encoding two Triticum aestivum puroindolines. Puroindoline-a and puroindoline-b, which are 55% similar, are basic, cystine-rich and tryptophan-rich proteins. Puroindolines are synthezised as preproproteins which include N- and C-terminal propeptides which could be involved in their vacuolar localization. The mature proteins have a molecular mass of 13 kDa and a calculated isoelectric point greater than 10. A notable feature of the primary structure of puroindolines is the presence of a tryptophan-rich domain which also contains basic residues. A similar tryptophan-rich domain was found within an oat seed protein and a mammalian antimicrobial peptide. The ten cysteine residues of puroindolines are organized in a cysteine skeleton which shows similarity to the cysteine skeleton of other wheat seed cystine-rich proteins. Northern blot analysis showed that puroindoline genes are specifically expressed in T. aestivum developing seeds. No puroindoline transcripts as well as no related genes were detected in Triticum durum. The identity of puroindolines to wheat starch-granule associated proteins is discussed as well as the potential role of puroindolines in the plant defence mechanism.

Triticum aestivum puroindolines, two basic cystine-rich seed proteins: cDNA sequence analysis and developmental gene expression.

A cDNA clone, designated TRAP (TNF-related activation protein) was isolated from a collection of T cell activation genes. The polypeptide encoded by a mRNA of approx. 2.3 kb is 261 amino acids long with a calculated M(r) of 29.3 kDa. The structural features predict a type II transmembrane protein, but are also compatible with a secreted form. TRAP is highly similar to an identified murine CD40 ligand both at the cDNA (82.8% identity) and the protein (77.4% identity) levels, and related to tumor necrosis factor/lymphotoxin. Expressed in a murine myeloma, TRAP was identified as a ligand for CD40 by binding to a soluble CD40 construct. TRAP mRNA is expressed in a T cell-specific fashion with a maximum at 8 h after stimulation. The TRAP gene is located in the q26.3-q27.1 region of the X chromosome.

Cloning of TRAP, a ligand for CD40 on human T cells

Mantle Cell Lymphoma

Optimization of Northern analysis by vacuum-blotting RNA transfer, visualization and ultraviolet fixation

Cytogenetic studies were performed on cell material obtained from surgical specimens of 50 human breast carcinomas and from 61 cancerous effusions of 46 patients. Classical cytogenetic analyses of numerical chromosome changes and marker chromosomes revealed the non-random involvement of chromosomes #X and #22 as monosomics, of chromosomes #3, #7, and #19 as trisomics, and chromosome #1 (particularly p 13 to q 12) in marker formation. Karyotypic evolution was followed in vitro and in vivo and showed a highly individualistic pattern of stability and variability.

Cytogenetic studies on human breast carcinomas.

Utilizing the phenomenon of premature chromosome condensation (PCC) studies were carried out on inter-phase chromatin of metastatic cells from 52 cancerous effusions obtained from 45 patients presenting with various solid carcinomas. A highly individual pattern of distribution of the various interphase stages was detected, reflecting the heterogeneity of human solid tumors in an advanced stage. Nevertheless a variety of clinical, biologic, and tecnical factors were examined for their possible influence on these PCC patterns. The duration in culture was one of the influencing factors, as were the time lapse between the first diagnosis and the sampling of the respective effusion, or the nature of cytostatic therapy. Cytogenetic equevalents of gene amplification, as represented by “double minutes”, could be found in the prematurely interphase chromatin of 35 of the 52 effusions. Gl-PCC proved to be most reliable with regard to screening of double minutes. In addition, an adequate quality of Giemsa banding was achieved in PCC of 21 out of 24 effusions yielding a sufficient number of well-spread PCC. In six of these 21 cases PCC was superior to metaphase analysis in obtaining karyotypes, while the same was true for 14 of the 52 effusions screened for double minutes. Thus the PCC technique was shown to be an indispensable additional source of cytogenetic information in cells of human solid tumors.

Premature chromosome condensation--studies on human metastatic carcinoma cells.

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Optimization of Northern analysis by vacuum-blotting RNA transfer, visualization and ultraviolet fixation

Cytogenetic studies on human breast carcinomas.

Premature chromosome condensation--studies on human metastatic carcinoma cells.