#610163
Table of Contents
A number sign (#) is used with this entry because of evidence that immunodeficiency-25 (IMD25) is caused by homozygous mutation in the CD247 (CD3Z) gene (186780) on chromosome 1q24. One such patient has been reported.
Rieux-Laucat et al. (2006) described a boy, of Caribbean origin and of unknown paternity, with primary T-cell immunodeficiency. He presented at the age of 4 months with erythroderma, protracted diarrhea, and pulmonary abscesses caused by Pseudomonas aeruginosa. During the next 2 years, he had recurrent episodes of herpes simplex virus infection of the mouth and skin, 2 episodes of oral and skin infections with Candida albicans, and 2 pulmonary infections. The patient's T-cell counts were very low, B-cell counts were normal, and there was eosinophilia. A haploidentical bone marrow transplantation, with the mother as the donor, was performed when the patient was 30 months old. The transplant resulted in sustained donor-recipient chimerism and correction of the immunodeficiency. Three years later, the patient was well and living at home.
In a boy with primary T-cell immunodeficiency, Rieux-Laucat et al. (2006) identified homozygosity for a germline Q70X mutation in the CD247 gene (186780.0001). Some of the patient's T cells had low levels of the T-cell receptor-CD3 complex and carried the Q70X mutation on both alleles of the CD3Z gene, whereas other T cells had normal levels of the complex and bore the Q70X mutation on only 1 allele of CD3Z, plus 1 of 3 heterozygous somatic mutations of CD3Z on the other allele (186780.0002-186780.0004), allowing expression of poorly functional T-cell receptor-CD3 complexes. Thus the patient had both inherited and somatic CD3Z mutations as the basis of the T-cell deficiency.
Alarcon et al. (1988) described 2 brothers who had low expression of antigen receptor on the surface of their T lymphocytes. Functional analyses of their T cells showed impaired immune response to alloantigens, tetanus toxoid, and mitogens. Biochemical studies showed reduced intracellular expression of CD3-zeta chains; all other components of the T-cell receptor-CD3 complex were expressed normally intracellularly. Alarcon et al. (1988) suggested that the impaired association of the CD3-zeta chain with the other chains of the complex was the primary defect leading to the low expression of T-cell receptor-CD3 complex and immunodeficiency in these children. However, further studies of these brothers by Arnaiz-Villena et al. (1991, 1992) indicated a CD3-gamma abnormality, and genetic analysis identified compound heterozygous mutation in the CD3G gene (186740.0001 and 186740.0002), consistent with primary immunodeficiency due to a defect in the gamma subunit of the CD3 complex (IMD17; 615607).
Alarcon, B., Regueiro, J. R., Arnaiz-Villena, A., Terhorst, C. Familial defect in the surface expression of the T-cell receptor-CD3 complex. New Eng. J. Med. 319: 1203-1208, 1988. [PubMed: 3262828, related citations] [Full Text]
Arnaiz-Villena, A., Perez-Aciego, P., Ballestin, C., Sotelo, T., Perez-Seoane, C., Martin-Villa, J. M., Regueiro, J. R. Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry: a possible CD3-gamma abnormality. Lab. Invest. 64: 675-681, 1991. [PubMed: 1709425, related citations]
Arnaiz-Villena, A., Timon, M., Corell, A., Perez-Aciego, P., Martin-Villa, J. M., Regueiro, J. R. Primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. New Eng. J. Med. 327: 529-533, 1992. [PubMed: 1635567, related citations] [Full Text]
Rieux-Laucat, F., Hivroz, C., Lim, A., Mateo, V., Pellier, I., Selz, F., Fischer, A., Le Deist, F. Inherited and somatic CD3-zeta mutations in a patient with T-cell deficiency. New Eng. J. Med. 354: 1913-1921, 2006. [PubMed: 16672702, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 169160; DO: 0111942;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q24.2 | ?Immunodeficiency 25 | 610163 | Autosomal recessive | 3 | CD247 | 186780 |
A number sign (#) is used with this entry because of evidence that immunodeficiency-25 (IMD25) is caused by homozygous mutation in the CD247 (CD3Z) gene (186780) on chromosome 1q24. One such patient has been reported.
Rieux-Laucat et al. (2006) described a boy, of Caribbean origin and of unknown paternity, with primary T-cell immunodeficiency. He presented at the age of 4 months with erythroderma, protracted diarrhea, and pulmonary abscesses caused by Pseudomonas aeruginosa. During the next 2 years, he had recurrent episodes of herpes simplex virus infection of the mouth and skin, 2 episodes of oral and skin infections with Candida albicans, and 2 pulmonary infections. The patient's T-cell counts were very low, B-cell counts were normal, and there was eosinophilia. A haploidentical bone marrow transplantation, with the mother as the donor, was performed when the patient was 30 months old. The transplant resulted in sustained donor-recipient chimerism and correction of the immunodeficiency. Three years later, the patient was well and living at home.
In a boy with primary T-cell immunodeficiency, Rieux-Laucat et al. (2006) identified homozygosity for a germline Q70X mutation in the CD247 gene (186780.0001). Some of the patient's T cells had low levels of the T-cell receptor-CD3 complex and carried the Q70X mutation on both alleles of the CD3Z gene, whereas other T cells had normal levels of the complex and bore the Q70X mutation on only 1 allele of CD3Z, plus 1 of 3 heterozygous somatic mutations of CD3Z on the other allele (186780.0002-186780.0004), allowing expression of poorly functional T-cell receptor-CD3 complexes. Thus the patient had both inherited and somatic CD3Z mutations as the basis of the T-cell deficiency.
Alarcon et al. (1988) described 2 brothers who had low expression of antigen receptor on the surface of their T lymphocytes. Functional analyses of their T cells showed impaired immune response to alloantigens, tetanus toxoid, and mitogens. Biochemical studies showed reduced intracellular expression of CD3-zeta chains; all other components of the T-cell receptor-CD3 complex were expressed normally intracellularly. Alarcon et al. (1988) suggested that the impaired association of the CD3-zeta chain with the other chains of the complex was the primary defect leading to the low expression of T-cell receptor-CD3 complex and immunodeficiency in these children. However, further studies of these brothers by Arnaiz-Villena et al. (1991, 1992) indicated a CD3-gamma abnormality, and genetic analysis identified compound heterozygous mutation in the CD3G gene (186740.0001 and 186740.0002), consistent with primary immunodeficiency due to a defect in the gamma subunit of the CD3 complex (IMD17; 615607).
Alarcon, B., Regueiro, J. R., Arnaiz-Villena, A., Terhorst, C. Familial defect in the surface expression of the T-cell receptor-CD3 complex. New Eng. J. Med. 319: 1203-1208, 1988. [PubMed: 3262828] [Full Text: https://doi.org/10.1056/NEJM198811033191806]
Arnaiz-Villena, A., Perez-Aciego, P., Ballestin, C., Sotelo, T., Perez-Seoane, C., Martin-Villa, J. M., Regueiro, J. R. Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry: a possible CD3-gamma abnormality. Lab. Invest. 64: 675-681, 1991. [PubMed: 1709425]
Arnaiz-Villena, A., Timon, M., Corell, A., Perez-Aciego, P., Martin-Villa, J. M., Regueiro, J. R. Primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. New Eng. J. Med. 327: 529-533, 1992. [PubMed: 1635567] [Full Text: https://doi.org/10.1056/NEJM199208203270805]
Rieux-Laucat, F., Hivroz, C., Lim, A., Mateo, V., Pellier, I., Selz, F., Fischer, A., Le Deist, F. Inherited and somatic CD3-zeta mutations in a patient with T-cell deficiency. New Eng. J. Med. 354: 1913-1921, 2006. [PubMed: 16672702] [Full Text: https://doi.org/10.1056/NEJMoa053750]
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