ADENOSINE DEAMINASE (ADA-SCID)

Question 1

What is  ADENOSINE DEAMINASE (ADA-SCID)?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

ADA [Adenosindesaminase]-Mangel (ADA-SCID)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 102700

Question 4

Which enzymes are involved?

Accepted Answer

adenosine deaminase

Disease	ADENOSINE DEAMINASE (ADA-SCID)
Synonym	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOS
OMIM	102700 OMIM = Online Mendelian Inheritance of Men
Orphanet	277
Protein (UniProt)	adenosine deaminase
ExPASy	3.5.4.4
Gene locus	20q13.12
ICD	D81.3
Summary	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]
Laboratory findings	2-Deoxyadenosine inc (urine) Adenosine inc (urine) Glutamine inc (cerebrospinal fluid) Immunglobulin IgE dec (serum) Immunoglobulins dec (serum) L-Homocystine inc (urine) Lymphocytes dec (blood) Methionine inc (cerebrospinal fluid)
Symptoms	obstructive airway disease anemia behavior, autism or autistic-like bronchiectasia diarrhea failure to thrive hepatomegaly (large liver) immunodeficiency infections (respiratory tract/system) infections (severe or recurrent) onset, childhood onset, infancy onset, neonatal pneumonia pulmonary alveolar proteinosis splenomegaly (large spleen) vomiting