PMID- 6823332
OWN - NLM
STAT- MEDLINE
DCOM- 19830324
LR  - 20201226
IS  - 0028-0836 (Print)
IS  - 0028-0836 (Linking)
VI  - 301
IP  - 5900
DP  - 1983 Feb 10
TI  - A severe combined immunodeficiency mutation in the mouse.
PG  - 527-30
AB  - The most debilitating human lymphoid deficiency disease, known as severe combined 
      immunodeficiency (SCID), impairs the differentiation of both T and B lymphocytes. 
      Affected infants are highly susceptible to recurring infections of viruses, fungi 
      and bacteria and invariably die within 2 yr of birth. Inheritance of this 
      congenital syndrome may show X-linked or autosomal recessive control. To date 
      autosomal recessive inheritance of SCID has been observed in Arabian foals which 
      represent the only known animal model of this disease syndrome but here we report 
      an autosomal recessive mutation in mice that severely impairs lymphopoiesis. Mice 
      homozygous for this mutation have few if any lymphocytes; consequently they are 
      hypogammaglobulinaemic and deficient for immune functions mediated by T and B 
      lymphocytes. These mice, therefore, represent a new model for investigating how 
      lymphoid differentiation may be impaired in the disease state and regulated in 
      the normal state.
FAU - Bosma, G C
AU  - Bosma GC
FAU - Custer, R P
AU  - Custer RP
FAU - Bosma, M J
AU  - Bosma MJ
LA  - eng
GR  - A1 13323/PHS HHS/United States
GR  - CA 04946/CA/NCI NIH HHS/United States
GR  - CA 06927/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Nature
JT  - Nature
JID - 0410462
SB  - IM
MH  - Animals
MH  - Bone Marrow Cells
MH  - Cell Differentiation
MH  - Disease Models, Animal
MH  - Hematopoietic Stem Cells/cytology
MH  - Immunologic Deficiency Syndromes/*genetics
MH  - Lymphocytes/cytology/*immunology
MH  - Mice
MH  - Mice, Mutant Strains/*immunology
MH  - Pedigree
MH  - Spleen/cytology
MH  - Thymus Gland/cytology
EDAT- 1983/02/10 00:00
MHDA- 1983/02/10 00:01
CRDT- 1983/02/10 00:00
PHST- 1983/02/10 00:00 [pubmed]
PHST- 1983/02/10 00:01 [medline]
PHST- 1983/02/10 00:00 [entrez]
AID - 10.1038/301527a0 [doi]
PST - ppublish
SO  - Nature. 1983 Feb 10;301(5900):527-30. doi: 10.1038/301527a0.