scholarly journals A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

2017 ◽  
Vol 32 (9) ◽  
pp. 1853-1859 ◽  
Author(s):  
Guillermo Pacheco-Cuéllar ◽  
Julie Gauthier ◽  
Valérie Désilets ◽  
Christian Lachance ◽  
Marlène Lemire-Girard ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Skeletal Dysplasia ◽  
Congenital Malformations ◽  
Bone Marrow Failure ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Severe Phenotype

Haemopoietic stem cell transplantation

2010 ◽  
pp. 4571-4580
Author(s):  
E.C. Gordon-Smith ◽  
Emma Morris
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Severe Combined Immunodeficiency ◽  
Congenital Disorders ◽  
Combined Immunodeficiency ◽  
Haemopoietic Stem Cell ◽  
Bone Marrow Failure Syndromes ◽  
Lysosomal Diseases ◽  
Haematological Disorders ◽  
Haemopoietic Stem Cell Transplantation

Haemopoietic stem cells (HSC) give rise to the blood cell lineages and the cells of the immune system, and their transplantation may be an appropriate part of the management of conditions including (1) malignant haematological disorders e.g. leukaemia, lymphoma, myeloma (2) bone marrow failure syndromes—e.g. aplastic anaemia; (3) congenital disorders—(a) haematological—e.g. Fanconi’s anaemia; (b) immunological—severe combined immunodeficiency; (c) metabolic—e.g. lysosomal diseases....

scholarly journals Transfusion-Associated Graft-Versus-Host Disease Confirmed by Human Leukocyte Antigen Typing in a Patient with Severe Combined Immunodeficiency and Review of the Literature

2020 ◽  
Vol 5 (1) ◽  
Keyword(s):  
Bone Marrow ◽  
Graft Versus Host Disease ◽  
Bone Marrow Failure ◽  
Multiorgan Failure ◽  
Severe Combined Immunodeficiency ◽  
Hla Typing ◽  
Combined Immunodeficiency ◽  
Review Of The Literature ◽  
Host Disease ◽  
Graft Versus Host

Background: Transfusion-associated graft-versus-host disease (TA-GVHD) is a rare, but often lethal complication of cellular blood component transfusion that produces a graft-versus-host clinical manifestation in immunodeficient patients. We report a patient who developed TA-GVHD and provide a review of the literature. Method: We report an infant with severe combined immunodeficiency (SCID) who developed TA-GVHD. The patient received a nonirradiated, packed erythrocyte cell suspension and platelet transfusions from unrelated donors, before the diagnosis of SCID. The patient manifested symptoms and signs of TA-GVHD (fever, skin rash, diarrhea, icterus, eosinophilia and bone marrow failure) 3-weeks after blood product transfusions. Result: Immunology investigation was consistent with T– B– NK+ SCID. The recto-sigmoid biopsies confirmed the gold standard features of grade-II acute GVHD. HLA typing of the patient and his parents showed that the patient has an extra-parental-allele of major histocompatibility complex (MHC) class I B*53. He received high doses of methylprednisolone, IVIG and ursodeoxycholic acid, but he had progressive hyperbilirubinemia and bone marrow failure, then he developed candidemia and pseudomonas aeruginosa sepsis and multiorgan failure then he died. Discussion / Conclusion: SCID is one of several risks for TA-GVHD. TA-GVHD develops when transfused blood-derived immunocompetent, alloreactive T lymphocytes able to engraft in the recipient’s lymphoid tissues that fail to reject them. Those lymphocytes mediate immune response causing damage and dysfunction of the skin, gastrointestinal tract, liver and bone marrow failure. Our patient showed all features of TA-GVHD that was complicated by fulminant sepsis and multiorgan failure despite aggressive management. The diagnosis of this lethal condition needs high index of suspicion and the transfusion history must be questioned in all immunodeficiency patients. The disease is fulminate and rapidly fatal in majority of patients even with aggressive treatment, while irradiation of blood products that to be given to recipients at risk is the preventive method of choice.

Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation

Blood ◽  
2001 ◽  
Vol 97 (4) ◽  
pp. 880-885 ◽  
Author(s):  
Claudio Pignata ◽  
Lucia Gaetaniello ◽  
Anna Maria Masci ◽  
Jorge Frank ◽  
Angela Christiano ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
T Cell ◽  
Marrow Transplantation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Cd8 Cells ◽  
Tcr Repertoire ◽  
Immunologic Reconstitution

Abstract Human Nude/SCID (severe combined immunodeficiency) is the first severe combined immunodeficiency caused by mutation of the winged–helix–nude (WHN) gene, which is expressed in the thymus but not in the hematopoietic lineage. The disease is characterized by a T-cell defect, congenital alopecia, and nail dystrophy. A Nude/SCID patient who underwent bone marrow transplantation from the human leukocyte antigen–identical heterozygote brother was studied to investigate, in this unique model, the role of the thymus in immunologic reconstitution. Despite an increase in CD3+, CD4+, and CD8+cells, CD4+ CD45 RA naive lymphocytes were not regenerated. Conversely, naive CD8+ cells were normal. After an initial recovery, lymphocyte proliferation to mitogens progressively declined compared with controls and genotypically identical donor cells grown in the WHN+/−environment. Analysis of the T-cell receptor (TCR) repertoire of CD4+ cells revealed that only 3 of 18 Vβ families had an altered CDR3 heterogeneity length profile. Conversely, CD8+lymphocytes showed an abnormal distribution in most Vβ families. These data indicate that the thymus is differentially required in the reconstitution of CD4+ and CD8+ naive subsets and in the maintenance of their TCR repertoire complexity. Taken together, these findings suggest that bone marrow transplantation is ineffective in the long-term cure of this form of SCID.

IMMUNORECONSTITUTION IN SEVERE COMBINED IMMUNODEFICIENCY AFTER TRANSPLANTATION OF HLA-HAPLOIDENTICAL, T-CELL-DEPLETED BONE MARROW

The Lancet ◽  
1984 ◽  
Vol 323 (8380) ◽  
pp. 761-764 ◽  
Author(s):  
W. Friedrich ◽  
U. Vetter ◽  
B. Heymer ◽  
Y. Reisner ◽  
S.F. Goldmann ◽  
...  
Keyword(s):  
Bone Marrow ◽  
T Cell ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency
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