Abstract
The transcription pattern of the heavy chain immunoglobulin gene locus was analyzed in a 6-month-old female with agammaglobulinemia characterized by the absence of mature B cells in peripheral blood, arrested B cell development in the bone marrow and lack of germinal center development. DNA sequencing provided no evidence of mutations within the coding region of the Bruton's tyrosine kinase gene. Polymerase chain reaction-generated cDNA libraries from blood and bone marrow were screened initially using J(H) and C(H) oligodeoxynucleotide probes and V(H) family-specific probes. Only 10% of the transcripts constituted mature VDJCμ recombinations. Ninety percent of the cDNA were sterile immunoglobulin transcripts comprised of: DJCμ (D(H)-J(H)Cμ), JCμ (J(H)-Cμ), ECμ (enhancer spliced to Cμ), SCμ and ICμ [corresponding to switch (S) and intron (I) regions spliced to Cμ] In the mature immunoglobulin transcripts, V(H) use indicated germline expression with little evidence of somatic mutation. All cDNA were of the Cμ type. Different D segments, D-D joining events and unknown D-like elements were noted in the DJCμ and VDJCμ transcripts. This pattern of immunoglobulin rearrangements, along with the phenotypic cell surface antigen characteristics (CD19-), suggest that an earlier arrest in B cell development than is characteristic of Bruton's X-linked agammaglobulinemia has occurred in this patient.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 809-815 |
| Number of pages | 7 |
| Journal | European Journal of Immunology |
| Volume | 25 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1995 |
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Keywords
- Immunodeficiency
- Immunoglobulin
- Junctional diversity
- mRNA transcript
- V(H) family
ASJC Scopus subject areas
- Immunology
Cite this
Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. / De La Morena, Maite; Haire, Robert N.; Ohta, Yuko; Nelson, Robert P.; Litman, Ronda T.; Day, Noorbibi K.; Good, Robert A.; Litman, Gary W.
In: European Journal of Immunology, Vol. 25, No. 3, 03.1995, p. 809-815.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia
AU - De La Morena, Maite
AU - Haire, Robert N.
AU - Ohta, Yuko
AU - Nelson, Robert P.
AU - Litman, Ronda T.
AU - Day, Noorbibi K.
AU - Good, Robert A.
AU - Litman, Gary W.
PY - 1995/3
Y1 - 1995/3
N2 - The transcription pattern of the heavy chain immunoglobulin gene locus was analyzed in a 6-month-old female with agammaglobulinemia characterized by the absence of mature B cells in peripheral blood, arrested B cell development in the bone marrow and lack of germinal center development. DNA sequencing provided no evidence of mutations within the coding region of the Bruton's tyrosine kinase gene. Polymerase chain reaction-generated cDNA libraries from blood and bone marrow were screened initially using J(H) and C(H) oligodeoxynucleotide probes and V(H) family-specific probes. Only 10% of the transcripts constituted mature VDJCμ recombinations. Ninety percent of the cDNA were sterile immunoglobulin transcripts comprised of: DJCμ (D(H)-J(H)Cμ), JCμ (J(H)-Cμ), ECμ (enhancer spliced to Cμ), SCμ and ICμ [corresponding to switch (S) and intron (I) regions spliced to Cμ] In the mature immunoglobulin transcripts, V(H) use indicated germline expression with little evidence of somatic mutation. All cDNA were of the Cμ type. Different D segments, D-D joining events and unknown D-like elements were noted in the DJCμ and VDJCμ transcripts. This pattern of immunoglobulin rearrangements, along with the phenotypic cell surface antigen characteristics (CD19-), suggest that an earlier arrest in B cell development than is characteristic of Bruton's X-linked agammaglobulinemia has occurred in this patient.
AB - The transcription pattern of the heavy chain immunoglobulin gene locus was analyzed in a 6-month-old female with agammaglobulinemia characterized by the absence of mature B cells in peripheral blood, arrested B cell development in the bone marrow and lack of germinal center development. DNA sequencing provided no evidence of mutations within the coding region of the Bruton's tyrosine kinase gene. Polymerase chain reaction-generated cDNA libraries from blood and bone marrow were screened initially using J(H) and C(H) oligodeoxynucleotide probes and V(H) family-specific probes. Only 10% of the transcripts constituted mature VDJCμ recombinations. Ninety percent of the cDNA were sterile immunoglobulin transcripts comprised of: DJCμ (D(H)-J(H)Cμ), JCμ (J(H)-Cμ), ECμ (enhancer spliced to Cμ), SCμ and ICμ [corresponding to switch (S) and intron (I) regions spliced to Cμ] In the mature immunoglobulin transcripts, V(H) use indicated germline expression with little evidence of somatic mutation. All cDNA were of the Cμ type. Different D segments, D-D joining events and unknown D-like elements were noted in the DJCμ and VDJCμ transcripts. This pattern of immunoglobulin rearrangements, along with the phenotypic cell surface antigen characteristics (CD19-), suggest that an earlier arrest in B cell development than is characteristic of Bruton's X-linked agammaglobulinemia has occurred in this patient.
KW - Immunodeficiency
KW - Immunoglobulin
KW - Junctional diversity
KW - mRNA transcript
KW - V(H) family
UR - http://www.scopus.com/inward/record.url?scp=0028926774&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028926774&partnerID=8YFLogxK
U2 - 10.1002/eji.1830250327
DO - 10.1002/eji.1830250327
M3 - Article
C2 - 7705412
AN - SCOPUS:0028926774
VL - 25
SP - 809
EP - 815
JO - European Journal of Immunology
JF - European Journal of Immunology
SN - 0014-2980
IS - 3
ER -