XX T cells and XY B cells in two patients with severe combined immune deficiency

1984 ◽  
Vol 31 (1) ◽  
pp. 87-95 ◽  
Author(s):  
Mary Ellen Conley ◽  
Peter C. Nowell ◽  
Gertrude Henle ◽  
Steven D. Douglas
Keyword(s):  
Immune Deficiency ◽  
T Cells ◽  
B Cells ◽  
Severe Combined Immune Deficiency ◽  
Combined Immune Deficiency

scholarly journals Adoptive transfer of neonatal T lymphocytes rescues immunoglobulin production in mice with severe combined immune deficiency.

1991 ◽  
Vol 173 (1) ◽  
pp. 265-268 ◽  
Author(s):  
J E Riggs ◽  
R S Stowers ◽  
D E Mosier
Keyword(s):  
Immune Deficiency ◽  
T Cells ◽  
T Cell ◽  
B Cells ◽  
Autosomal Recessive ◽  
Low Frequency ◽  
Cell Receptor ◽  
Scid Mice ◽  
Severe Combined Immune Deficiency ◽  
Combined Immune Deficiency

Mice with the autosomal recessive severe combined immune deficiency (scid) mutation lack mature lymphocytes because of defective joining of T cell receptor and immunoglobulin (Ig) gene segments. Penetrance of this mutation is incomplete since 10-25% of SCID mice produce some T or B lymphocytes. This "leaky" phenotype could be due to a reversion of the mutation in some mice or to a constant, low frequency of functional lymphocytes generated in all SCID mice with variable survival of such cells. We report here that all SCID mice can be stimulated to produce functional B cells by the transfer of normal neonatal, but not adult, T cells. T cell-induced rescue of C.B-17scid B cells results in high levels of Ig expressing the Ighb allotype of the SCID recipient. These results show that all SCID mice generate some functional B cells, the majority of which do not survive in the absence of a subset of T cells present in high frequency in the neonate.

Autosomal Dominant Combined Immune Deficiency: A Unique Family with Absent B-Cells and Decreased T-Cells

2007 ◽  
Vol 123 ◽  
pp. S48-S49
Author(s):  
Michael Land ◽  
Raffi Tachdjian ◽  
Erina Lin ◽  
Robert Roberts ◽  
Marc Riedl
Keyword(s):  
Immune Deficiency ◽  
T Cells ◽  
B Cells ◽  
Autosomal Dominant ◽  
Combined Immune Deficiency

scholarly journals T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient

Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1708-1717 ◽  
Author(s):  
E Morelon ◽  
A Dautry-Varsat ◽  
F Le Deist ◽  
S Hacein-Bay ◽  
A Fischer ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
T Cells ◽  
Killer Cell ◽  
Interleukin 2 ◽  
Cytoplasmic Tail ◽  
Severe Combined Immune Deficiency ◽  
Stop Mutation ◽  
Development And Differentiation ◽  
Combined Immune Deficiency ◽  
Differentiation And Proliferation

Abstract Mutation of the gamma c chain common to interleukin-2 (IL-2), IL-4, IL- 7, IL-9, and IL-15 receptors has been shown to be responsible for the X chromosome-linked severe combined immune deficiency (SCIDX1). Human SCIDX1 patients are characterized by an absence of T and natural killer cell differentiation. We report the case of a SCIDX1 patient who first had few detectable peripheral T cells, then developed, after haploidentical T-depleted bone marrow transplantation (BMT), up to 2,000/microL autologous T cells. These T cells have persisted over 8 years after BMT and were able to proliferate in the presence of mitogens and of some antigens, although to a lesser extent than control T cells. A stop mutation was identified which predicts that the major part of the cytoplasmic tail of gamma c is truncated. This mutation does not affect high-affinity IL-2 binding, but it partly decreases IL- 2 endocytosis and prevents the downmodulation of the IL-2-receptor beta chain and the tyrosine phosphorylation of Jak 3 protein in response to IL-2. This report raises questions concerning the role of the gamma c chain in IL-2 receptor endocytosis and in T-cell development and differentiation.

scholarly journals Evidence of functional lymphocytes in some (leaky) scid mice.

1988 ◽  
Vol 167 (3) ◽  
pp. 1016-1033 ◽  
Author(s):  
G C Bosma ◽  
M Fried ◽  
R P Custer ◽  
A Carroll ◽  
D M Gibson ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
T Cells ◽  
General Pattern ◽  
Scid Mice ◽  
Lymphoid Tissues ◽  
Severe Combined Immune Deficiency ◽  
Splenic Cells ◽  
Combined Immune Deficiency ◽  
Lymphocyte Antigens ◽  
High Concentrations

Although the majority of severe combined immune deficiency (scid) mice lack functional lymphocytes, some (2-23%) appear to develop a limited number of B and T cells between 3 and 9 mo old. Most of these leaky scid mice were shown to contain very few clones (less than or equal to 3) of Ig-producing plasmacytes. Clonal progeny were distributed unevenly in the lymphatic tissues and appeared as discrete plasmacytic foci. In many cases, individual clones persisted for several months and produced abnormally high concentrations of Ig that included multiple isotypes. Functional T cells were inferred from the ability of leaky mice to reject allogeneic skin grafts, a T cell-dependent reaction. Interestingly, approximately 40% of leaky mice developed thymic lymphomas. In other respects, leaky mice resembled regular scid mice; e.g., their splenic cells failed to express common lymphocyte antigens (Ly-5[B220], Ly-1) and to proliferate in response to lymphocyte mitogens. Histologically, their lymphoid tissues retained the same general pattern of severe lymphocytic deficiency as scid mice.

scholarly journals T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient

Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1708-1717 ◽  
Author(s):  
E Morelon ◽  
A Dautry-Varsat ◽  
F Le Deist ◽  
S Hacein-Bay ◽  
A Fischer ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
T Cells ◽  
Killer Cell ◽  
Interleukin 2 ◽  
Cytoplasmic Tail ◽  
Severe Combined Immune Deficiency ◽  
Stop Mutation ◽  
Development And Differentiation ◽  
Combined Immune Deficiency ◽  
Differentiation And Proliferation

Mutation of the gamma c chain common to interleukin-2 (IL-2), IL-4, IL- 7, IL-9, and IL-15 receptors has been shown to be responsible for the X chromosome-linked severe combined immune deficiency (SCIDX1). Human SCIDX1 patients are characterized by an absence of T and natural killer cell differentiation. We report the case of a SCIDX1 patient who first had few detectable peripheral T cells, then developed, after haploidentical T-depleted bone marrow transplantation (BMT), up to 2,000/microL autologous T cells. These T cells have persisted over 8 years after BMT and were able to proliferate in the presence of mitogens and of some antigens, although to a lesser extent than control T cells. A stop mutation was identified which predicts that the major part of the cytoplasmic tail of gamma c is truncated. This mutation does not affect high-affinity IL-2 binding, but it partly decreases IL- 2 endocytosis and prevents the downmodulation of the IL-2-receptor beta chain and the tyrosine phosphorylation of Jak 3 protein in response to IL-2. This report raises questions concerning the role of the gamma c chain in IL-2 receptor endocytosis and in T-cell development and differentiation.

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