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Summary
ADENOSINE DEAMINASE (ADA-SCID)
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOS
102700
OMIM = Online Medalian Inheritance of Men
277
20q13.12
  • bone marrow transplantation
  • enzyme replacement therapy
  • gene therapy
rare (1:200000 -  1:1000000)
autosomal recessive
somatic mosaicism
mutation in the adenosine deaminase gene
ADA activity may be a risk factor for the development of autism [Bottini et al. 2001]
symptoms
anemia
asthma
behavior, autism or autistic-like
bronchiectasia
diarrhea
failure to thrive
hepatomegaly (large liver)
immunodeficiency
infections (severe or recurrent)
onset, childhood
onset, infancy
onset, neonatal
pneumonia
pulmonary alveolar proteinosis
sinusitis
splenomegaly (large spleen)
vomiting
laboratory finding
Lymphocytes decreasedblood
Adenosine1000.005000.00 increasedurine
Glutamine increasedcerebrospinal fluid
L-Homocystine0.000.00 increasedurineno data
Methionine increasedcerebrospinal fluid
2-Deoxyadenosine10.000.00 mmol/mol creatinineurine
Immunglobulin IgA decreasedserum
Immunglobulin IgE decreasedserum
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