PMID- 12600751
OWN - NLM
STAT- MEDLINE
DCOM- 20031027
LR  - 20190826
IS  - 0165-2478 (Print)
IS  - 0165-2478 (Linking)
VI  - 86
IP  - 1
DP  - 2003 Mar 3
TI  - Impaired thymic output and restricted T-cell repertoire in two infants with 
      immunodeficiency and early-onset generalized dermatitis.
PG  - 93-7
AB  - We evaluated the T-cell repertoire and the thymic output in two infants, one with 
      Omenn Syndrome (OS) and another with complete DiGeorge Syndrome (DGS), who 
      developed generalized dermatitis. The patients shared common T-cell 
      abnormalities, as demonstrated by the low response to mitogenic stimulation, by 
      an unusual usage of specific T-cell receptor (TCR) segments, and by a reduction 
      of TCR diversity in both alpha/beta and gamma/delta populations. Furthermore, 
      they both showed an impaired thymic function, as assessed by the low number of 
      TCR recombination excision circles, which are formed from excised DNA during the 
      rearrangement of TCR genes. These data indicated that generalized erythrodermia 
      may be present in different forms of T-cell immunodeficiency and may reflect 
      intrinsic defects in either V(D)J recombination or in thymic development, leading 
      to the peripheral expansion of T-cell clonotypes, that bear peculiar TCR chains.
FAU - Pirovano, S
AU  - Pirovano S
AD  - Terzo Servizio Analisi, Spedali Civili of Brescia, Brescia, Italy.
FAU - Mazzolari, E
AU  - Mazzolari E
FAU - Pasic, S
AU  - Pasic S
FAU - Albertini, A
AU  - Albertini A
FAU - Notarangelo, Luigi D
AU  - Notarangelo LD
FAU - Imberti, L
AU  - Imberti L
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Immunol Lett
JT  - Immunology letters
JID - 7910006
RN  - 0 (Receptors, Antigen, T-Cell)
SB  - IM
MH  - Common Variable 
      Immunodeficiency/*complications/congenital/*immunology/physiopathology
MH  - Dermatitis/*etiology
MH  - DiGeorge Syndrome/*complications/congenital/*immunology/physiopathology
MH  - Female
MH  - Gene Amplification
MH  - Gene Rearrangement, T-Lymphocyte
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Receptors, Antigen, T-Cell/genetics/immunology
MH  - T-Lymphocytes/*pathology
MH  - Thymus Gland/*physiopathology
EDAT- 2003/02/26 04:00
MHDA- 2003/10/28 05:00
CRDT- 2003/02/26 04:00
PHST- 2003/02/26 04:00 [pubmed]
PHST- 2003/10/28 05:00 [medline]
PHST- 2003/02/26 04:00 [entrez]
AID - S0165247802002912 [pii]
AID - 10.1016/s0165-2478(02)00291-2 [doi]
PST - ppublish
SO  - Immunol Lett. 2003 Mar 3;86(1):93-7. doi: 10.1016/s0165-2478(02)00291-2.