The peripheral blood lymphocytes of nine patients with hyper immunoglobulin (Ig)M immunodeficiency were studied in an attempt to define the cellular basis of this disorder. B cells were normal in number but qualitatively abnormal in all patients. Approximately one-half of the B cell consisted of small lymphocytes (7-9 μm in diameter) bearing surface IgM and IgD, as well as C3 receptors. These cells were driven to secrete IgM but not IgG after in vitro stimulation by pokeweed mitogen. In the blood there were also large lymphocytes (10-14 μm in diameter) that possessed surface as well as intracytoplasmic IgM but lacked C3 receptors. These cells spontaneously secreted large amounts of IgM in vitro and on electron microscopy were found to be rich in rough endoplasmic reticulum. Such a subpopulation of lymphoid cells was not detected in normal peripheral blood and was unique for all patients with hyper IgM immunodeficiency studied.
Raif S. Geha, Newton Hyslop, Samih Alami, Fuad Farah, Eveline E. Schneeberger, Fred S. Rosen
Title and authors | Publication | Year |
---|---|---|
Clinical significance of hyper-IgA in a paediatric laboratory series
V Copetti, S Pastore, CD Pieri, O Radillo, A Taddio, A Ventura, A Tommasini |
Archives of disease in childhood | 2014 |
Primary Immunodeficiency Disorders
M Berger, ER Stiehm |
2014 | |
Novartis Foundation Symposia: Autoimmunity and Autoimmune Disease: Ciba Foundation Symposium 129
FS Rosen |
Novartis Foundation Symposia: Autoimmunity and Autoimmune Disease: Ciba Foundation Symposium 129 | 2007 |
Development and Validation of a Canine T-Cell-Dependent Antibody Response Model for Immunotoxicity Evaluation
D Finco-Kent, TT Kawabata |
Journal of Immunotoxicology | 2005 |
CD154 DEFICIENCY AND RELATED SYNDROMES
FA Bonilla, RS Geha |
Immunology and Allergy Clinics of North America | 2001 |
CD40:CD40L Interactions in X-linked and Non-X-linked Hyper-IgM Syndromes
A Bhushan, LR Covey |
Immunologic Research | 2001 |
X-Linked Hyper IgM Syndrome
LC Schneider |
Clinical Reviews in Allergy & Immunology | 2000 |
Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome
A Jain, TP Atkinson, PE Lipsky, JE Slater, DL Nelson, W Strober |
Journal of Clinical Investigation | 1999 |
The hyper-IgM (HIM) syndrome
N Ramesh, M Seki, LD Notarangelo, RS Geha |
Springer Seminars in Immunopathology | 1998 |
Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome
R Ameratunga, HM Lederman, KE Sullivan, HD Ochs, K Seyama, JK French, R Prestidge, J Marbrook, WC Fanslow, JA Winkelstein |
The Journal of Pediatrics | 1997 |
Increase of intracellular calcium is the essential signal for the expression of CD40 ligand
HG Nüsslein, KH Frosch, W Woith, P Lane, JR Kalden, B Manger |
European Journal of Immunology | 1996 |
Recent advances in the genetics of primary immunodeficiency syndromes
SD Shyur, HR Hill |
The Journal of Pediatrics | 1996 |
Hyperimmunoglobulin M syndrome associated with systemic amyloidosis type AA
A Öner, G Demircin, K Tinaztepe, O Pekuz, F Ersoy |
European Journal of Pediatrics | 1995 |
Intrinsic defect in B cells of patients with hyper-immunoglobulin M syndrome
YB Porat, D Levy, J Levy, I Zan-Bar |
Clinical and diagnostic laboratory immunology | 1995 |
The Primary Immunodeficiencies
FS Rosen, MD Cooper, RJ Wedgwood |
New England Journal of Medicine | 1995 |
Immunoglobulin Genes
PD Burrows, HW Schroeder, MD Cooper |
Immunoglobulin Genes | 1995 |
Cyclosporin A inhibits CD40 ligand expression in T lymphocytes
R Fuleihan, N Ramesh, A Horner, D Ahern, PJ Belshaw, DG Alberg, I Stamenkovic, W Harmon, RS Geha |
Journal of Clinical Investigation | 1994 |
Molecular Pathology of X-Linked Immunoglobulin Deficiency with Normal or Elevated IgM (HIGMX-1)
N Ramesh, R Fuleihan, R Geha |
Immunological Reviews | 1994 |
Defective Expression of CD40 Ligand on T Cells Causes "X-Linked Immunodeficiency with Hyper-IgM (HIGM1)"
RA Kroczek, D Graf, D Brugnoni, S Giliani, U Korthauer, A Ugazio, G Senger, HW Mages, A Villa, LD Notarangelo |
Immunological Reviews | 1994 |
Decreased expression of the ligand for CD40 in newborn lymphocytes
R Fuleihan, D Ahern, RS Geha |
European Journal of Immunology | 1994 |
Memory B cell development but not germinal center formation is impaired by in vivo blockade of CD40-CD40 ligand interaction
D Gray, P Dullforce, S Jainandunsing |
Journal of Experimental Medicine | 1994 |
The role of CD40L (gp39)/CD40 in T/B cell interaction and primary immunodeficiency
HD Ochs, D Hollenbaugh, A Aruffo |
Research in Immunology | 1994 |
Molecular characterization of the X-linked immunodeficiency diseases
WL Greer, KA Siminovitch |
Clinical Immunology Newsletter | 1994 |
Symposium in Immunology III
MM Eibl, C Huber, HH Peter, U Wahn |
1994 | |
Membranous glomerulonephritis associated with hepatitis C virus infection in an adolescent
E Romas, DA Power, AJ dApice, D Machet, H Powell |
Pathology | 1994 |
The biology of the human ligand for CD40
MK Spriggs, WC Fanslow, RJ Armitage, J Belmont |
Journal of Clinical Immunology | 1993 |
Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM
R Fuleihan, N Ramesh, R Loh, H Jabara, RS Rosen, T Chatila, SM Fu, I Stamenkovic, RS Geha |
Proceedings of the National Academy of Sciences | 1993 |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
R Allen, R Armitage, M Conley, H Rosenblatt, N Jenkins, N Copeland, M Bedell, S Edelhoff, C Disteche, D Simoneaux, et |
Science | 1993 |
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
JP DiSanto, JY Bonnefoy, JF Gauchatt, A Fischer, G de Saint Basile |
Nature | 1993 |
Advances in Human Genetics 21
H Harris, K Hirschhorn |
1993 | |
Mapping of the x-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT
M Padayachee, C Feighery, A Finn, C McKeown, RJ Levinsky, C Kinnon, S Malcolm |
Genomics | 1992 |
Hyper-IgM immunodeficiency syndrome: Influence of lymphokines onin vitro maturation of peripheral B cells
ML Gougeon, L Morelet, M Doussau, J Theze, C Griscelli, A Fischer |
Journal of Clinical Immunology | 1992 |
Immunology of Gastrointestinal Disease
TT MacDonald |
1992 | |
Genetics of human X-linked immunodeficiency diseases
RW Hendriks, RK Schuurman |
Clinical & Experimental Immunology | 1991 |
X-Linked Immunodeficiencies Involving the Lymphoid System
YL Lau |
Pediatric Asthma, Allergy & Immunology | 1991 |
Expansion of a suppressor T-cell population associated with the hyper-IgM syndrome and generalized lymphadenopathy
PH Hoeger, L Mayer |
Clinical Immunology and Immunopathology | 1991 |
Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages
LD Notarangelo, O Parolini, A Albertini, M Duse, E Mazzolari, A Plebani, G Camerino, AG Ugazio |
Human Genetics | 1991 |
Genetics of human X-linked immunodeficiency diseases.
Hendriks RW, Schuurman RK |
Clinical & Experimental Immunology | 1991 |
Presence of immunoglobulin (Ig) M and IgG double isotype-bearing cells and defect of switch recombination in hyper IgM immunodeficiency
Y Akahori, Y Kurosawa, Y Kamachi, S Torii, H Matsuoka |
Journal of Clinical Investigation | 1990 |
Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact
RW Hendriks, ME Kraakman, IW Craig, T Espanol, RK Schuurman |
European Journal of Immunology | 1990 |
T cell malignancy in Richter's syndrome presenting as hyper IgM. Induction and characterization of a novel CD3, CD4-, CD8 T cell subset from phytohemagglutinin-stimulated patient's CD3, CD4, CD8 leukemic T cells
S Raziuddin, HM Assaf, B Teklu |
European Journal of Immunology | 1989 |
Predominant Immunoglobulin Gene Rearrangements in Two Patients with Immunodeficiency: Restricted Use of V Gene Segments and Dna Hypermethylation
G Hauke, M Hadam, JT Epplen, M Gahr, A Hollmann, HH Peter |
Immunobiology | 1989 |
The child with frequent infections
RA Wood, HA Sampson |
Current Problems in Pediatrics | 1989 |
Definition of the Gene Loci in X-Linked Immunodeficiencies
ME Conley, JM Puck |
Immunological Investigations | 1988 |
Advances in Genetics
BH Bowman, F Yang, GS Adrian |
Advances in genetics | 1988 |
Immunoglobulin deficiency with increased immunoglobulin M in three siblings: effect of long-term immunoglobulin therapy
L Mardi, I Szab, |
European Journal of Pediatrics | 1988 |
Recent Advances in Mucosal Immunology
J Mestecky, JR McGhee, J Bienenstock, PL Ogra |
1987 | |
X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus
EJ Mensink, A Thompson, LA Sandkuyl, ME Kraakman, JD Schot, T Espanol, RK Schuurman |
Human Genetics | 1987 |
Dissection of the Human Antigammaglobulin Idiotype System with Monoclonal Antibodies
DN Posnett, R Wisniewolski, B Pernis, HG Kunkel |
Scandinavian Journal of Immunology | 1986 |
Evidence for a Defect in Switch T Cells in Patients with Immunodeficiency and Hyperimmunoglobulinemia M
L Mayer, SP Kwan, C Thompson, HS Ko, N Chiorazzi, T Waldmann, F Rosen |
New England Journal of Medicine | 1986 |
Human B lymphocytes capable of spontaneous Ig production in short-term cultures: Characterization in the circulation and lymphoid tissues
ML la Sen, A Garcia-Alonso, JA Brieva |
Cellular Immunology | 1986 |
Ontogeny of B cells and pathogenesis of humoral immunodeficiencies
AR Lawton |
Clinical Immunology and Immunopathology | 1986 |
Primary sclerosing cholangitis associated with hyperimmunoglobulin M immunodeficiency (dysgammaglobulinemia)
JA DiPalma, CT Strobel, JG Farrow |
Gastroenterology | 1986 |
Acquired hyper-IgM syndrome with necrotizing granuloma
MF Goldstein, MJ Kornstein, S Talbot, AI Levinson |
Journal of Allergy and Clinical Immunology | 1985 |
Immunodeficiency Syndromes and the Gut
ME Ament |
Scandinavian Journal of Gastroenterology | 1985 |
Immunodeficiency with defective T-cell response to interleukin 1
ET Chu, LJ Rosenwasser, CA Dinarello, FS Rosen, RS Geha |
Proceedings of the National Academy of Sciences | 1984 |
Cellular immune findings in Lyme disease Correlation with serum IgM and disease activity
CM Moffat, LH Sigal, AC Steere, DH Freeman, JM Dwyer |
The American Journal of Medicine | 1984 |
Major histocompatibility restriction of antigen recognition by T cells in a recipient of haplotype mismatched human bone marrow transplantation
E Chu, D Umetsu, F Rosen, RS Geha |
Journal of Clinical Investigation | 1983 |
Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching
D Levitt, P Haber, K Rich, MD Cooper |
Journal of Clinical Investigation | 1983 |
Inhibition of human antigen-induced lymphoblastoid B-cell function by an in vivo-induced suppressor T cell
JA Brieva, RH Stevens |
Cellular Immunology | 1983 |
Tubulo-Interstitial Nephritis Associated with Polyomavirus (BK Type) Infection
S Rosen, W Harmon, AM Krensky, PJ Edelson, BL Padgett, BW Grinnell, MJ Rubino, DL Walker |
New England Journal of Medicine | 1983 |
Immunologic studies of three family members with the immunodeficiency with hyper-IgM syndrome
Z Brahmi, KH Lazarus, ME Hodes, RL Baehner |
Journal of Clinical Immunology | 1983 |
Regulation of human B-lymphocyte function in secondary humoral immune responses
RH Stevens |
Immunology Today | 1982 |
Persistent Polyclonal Lymphocytosis of B Lymphocytes
DS Gordon, BM Jones, SW Browning, TJ Spira, DN Lawrence |
New England Journal of Medicine | 1982 |
IgM cryoprecipitation and anti-immunoglobulin activity in dysgammaglobulinemia type I
JB Winfield, PL Cohen, L Bradley, FD Finkelman, RA Eisenberg, R Wistar, JK Whisnant |
Clinical Immunology and Immunopathology | 1982 |
Type I dysgammaglobulinemia
R Simonsen, DM Elnicki, BS Rabin |
Clinical Immunology Newsletter | 1982 |
Does the X chromosome have a special role in immune biology?
SD Litwin |
Medical Hypotheses | 1982 |
Isotypes of surface immunoglobulin on B lymphocytes from patients with immune deficiency
JF Schwaber, FS Rosen |
Journal of Clinical Immunology | 1982 |
IgM-restricted production of immunoglobulin by lymphoid cell lines from patients with immunodeficiency with hyper IgM (dysgammaglobulinemia)
JF Schwaber, H Lazarus, FS Rosen |
Clinical Immunology and Immunopathology | 1981 |
Regulation of monoclonal immunoglobulin G synthesis by antiidiotypic antibody in a patient with hypogammaglobulinemia
F Mudawwar, Z Awdeh, K Ault, RS Geha |
Journal of Clinical Investigation | 1980 |
Subpopulations of circulating B cells and regulatory T cells involved in in vitro immunoglobulin E production in atopic patients with elevted serum immunoglobulin E
A Saxon, C Morrow, RH Stevens |
Journal of Clinical Investigation | 1980 |