PMID- 12000488
OWN - NLM
STAT- MEDLINE
DCOM- 20021008
LR  - 20191105
IS  - 0905-6157 (Print)
IS  - 0905-6157 (Linking)
VI  - 13
IP  - 2
DP  - 2002 Apr
TI  - Prolidase deficiency with hyperimmunoglobulin E: a case report.
PG  - 140-2
AB  - Prolidase deficiency is a rare, inherited disorder characterized by ulceration of 
      the skin, mental retardation, and massive urinary excretion of imidodipeptides. 
      Most patients also have recurrent infections, an unusual facial appearance, and 
      splenomegaly. We describe a girl presenting with chronic dermatitis, recurrent 
      respiratory tract infections since her first months of life, and facial features 
      characteristic of prolidase deficiency. The diagnosis of prolidase deficiency was 
      made at 4.5 months of age. The immunologic study in this patient showed an 
      extreme and progressive increase of total immunoglobulin E (IgE) in serum 
      (reaching the value of 77,600 IU/l) and defective chemotactic function of the 
      neutrophils. Treatment with a hyper-proteic diet supplemented with ascorbic acid, 
      manganese chlorite, and topical proline resulted in reduction of the frequency 
      and severity of the infections and significant improvement of the skin lesions. 
      The authors discuss the immunologic alterations and the favorable evolution with 
      treatment in this patient.
FAU - Lopes, I
AU  - Lopes I
AD  - Instituto de Genetica Medica, Hospital Criancas Maria Pia, Porto, Portugal.
FAU - Marques, L
AU  - Marques L
FAU - Neves, E
AU  - Neves E
FAU - Silva, A
AU  - Silva A
FAU - Taveira, M
AU  - Taveira M
FAU - Pena, R
AU  - Pena R
FAU - Vilarinho, L
AU  - Vilarinho L
FAU - Martins, E
AU  - Martins E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Pediatr Allergy Immunol
JT  - Pediatric allergy and immunology : official publication of the European Society 
      of Pediatric Allergy and Immunology
JID - 9106718
RN  - 37341-29-0 (Immunoglobulin E)
RN  - 9DLQ4CIU6V (Proline)
RN  - EC 3.4.13.- (Dipeptidases)
RN  - EC 3.4.13.9 (proline dipeptidase)
RN  - RMB44WO89X (Hydroxyproline)
SB  - IM
MH  - Amino Acid Metabolism, Inborn Errors/*complications/diagnosis/physiopathology
MH  - Child
MH  - Dipeptidases/*deficiency
MH  - Female
MH  - Humans
MH  - Hydroxyproline/*metabolism
MH  - Hypergammaglobulinemia/*diagnosis
MH  - Immunoglobulin E/*blood
MH  - Proline/*metabolism
EDAT- 2002/05/10 10:00
MHDA- 2002/10/09 04:00
CRDT- 2002/05/10 10:00
PHST- 2002/05/10 10:00 [pubmed]
PHST- 2002/10/09 04:00 [medline]
PHST- 2002/05/10 10:00 [entrez]
AID - pai0c075 [pii]
AID - 10.1034/j.1399-3038.2002.00075.x [doi]
PST - ppublish
SO  - Pediatr Allergy Immunol. 2002 Apr;13(2):140-2. doi: 
      10.1034/j.1399-3038.2002.00075.x.