PMID- 10200056
OWN - NLM
STAT- MEDLINE
DCOM- 19990405
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 6
DP  - 1998
TI  - Seven novel mutations in the adenosine deaminase (ADA) gene in patients with
      severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W,
      Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
PG  - 482
AB  - The degree of immunodeficiency associated with deficiency of adenosine deaminase 
      (ADA) is variable. Most patients are infants with severe combined
      immunodeficiency (SCID), but in about 20 percent immune dysfunction becomes
      manifest later in childhood ("delayed-onset"); several patients with "late" or
      "adult" onset of immune dysfunction have been diagnosed at 15-39 years. Over 40
      ADA gene mutations have thus far been identified. To better define the
      genotype-phenotype relationship, we report 7 novel ADA mutations, including 5
      missense mutations (G74C, V129M, G140E, R149W, Q199P) and two short deletions
      (462delG, E337del). These were identified among 7 patients (3 with SCID and 4
      with delayed-onset). A homozygote for 462delG had SCID, whereas patients
      homozygous or heterozyous for V129M had delayed-onset. Two other delayed-onset
      patients, one heterozygous for G74C and the other for Q199P, each had a second
      allele carrying the previously reported "severe" mutation G216R. These findings
      are consistent with previous observations suggesting that, in general, SCID
      occurs when both alleles eliminate ADA function, and a milder phenotype when at
      least one allele can supply a low level of function.
FAU - Arrendondo-Vega, F X
AU  - Arrendondo-Vega FX
AD  - Department of Medicine, Duke University Medical Center, Durham, NC, USA.
FAU - Santisteban, I
AU  - Santisteban I
FAU - Notarangelo, L D
AU  - Notarangelo LD
FAU - El Dahr, J
AU  - El Dahr J
FAU - Buckley, R
AU  - Buckley R
FAU - Roifman, C
AU  - Roifman C
FAU - Conley, M E
AU  - Conley ME
FAU - Hershfield, M S
AU  - Hershfield MS
LA  - eng
GR  - R01DK20902/DK/NIDDK 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  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0RH81L854J (Glutamine)
RN  - 3KX376GY7L (Glutamic Acid)
RN  - 8DUH1N11BX (Tryptophan)
RN  - 94ZLA3W45F (Arginine)
RN  - 9DLQ4CIU6V (Proline)
RN  - AE28F7PNPL (Methionine)
RN  - EC 3.5.4.4 (Adenosine Deaminase)
RN  - HG18B9YRS7 (Valine)
RN  - K848JZ4886 (Cysteine)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - Adenosine Deaminase/deficiency/*genetics
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Arginine/genetics
MH  - Cysteine/genetics
MH  - Glutamic Acid/genetics
MH  - Glutamine/genetics
MH  - Glycine/genetics
MH  - Humans
MH  - Methionine/genetics
MH  - Mutation/*genetics
MH  - Proline/genetics
MH  - Sequence Deletion/genetics
MH  - Severe Combined Immunodeficiency/*genetics
MH  - Tryptophan/genetics
MH  - Valine/genetics
EDAT- 1999/04/13 02:08
MHDA- 2000/06/22 10:00
CRDT- 1999/04/13 02:08
PHST- 1999/04/13 02:08 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/13 02:08 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU14>3.0.CO;2-H [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(6):482. doi:
      10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E.