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Description of the process for infants positively associated with severe combined immune deficiency (SCID:with normal NHS neonatal bloodstains (NBS:) examination և are sent to diagnostic services.

Immunology և teams can use this information to make sure that children who need a diagnostic test SCID: are sent և tested at the right time և retrospectively.

1. Prior notice:

The laboratory informs SCID: Clinical Immunology Service (CIS) according to the local protocol, the day of the display result.

2: Urgent actions

The following urgent actions must be taken on the same day as the initial notice (not on Friday, if the child cannot be observed the next day). CIS teams need

3: First appointment

The first appointment should be arranged with a knowledgeable expert within 2 working days of contacting the family. The appointment should be face-to-face if the child is not in the hospital. In that case, it must be done virtually. You must inform the family.

  • that: SCID: study և explain flow cytometry

  • about their child’s data storage, use և analysis

You have to take.

  • for a blood sample SCID: lymphocyte test subset (see note below) և send it SCID: diagnostic or immunological laboratory

  • their consent to contact their experience քննարկ to discuss further results

Note: 0.5 ml EDTA: Blood will be collected և analyzed by flow cytometry using the following markers: CD3, CD19, CD56 / 16, CD4, CD8, CD45RA, CD27 և DR: T cells, B cells, LK cells, CD4 T cells, CD8 T cells, naive T cells և MHC II expression

4: Review the results

On the same day or within 1 working day of taking diagnostic samples you should:

5: Is the flow cytometry result normal?

Yes. Look, calm down the parents, release the child. Provide emission information. Confirm further agreement. Email to parents (copy in GP) using: SCID: No sample of letters from the immunological services was found, which includes vaccination tips. End of the road.

No. Go to question 6.

6: Is flow cytometry <10% naive T cell?

Yes. SCID:/ Ak’s SCID:/ Omen syndrome. You should.

  • contact the patient immediately SCID: transplant center

  • Get consent for genetic testing to find out the specifics SCID: type:

  • decide maternal CMV: Fresh IgG status on a fresh blood sample so you can get advice on breastfeeding. Stop breastfeeding until results are available

  • get advice SCID: focus on prevention of co-trimoxazole, fluconazole և immunoglobulins

  • Ideally, undertake the final procedure within 3 months of diagnosis SCID:

End of the road.

No. no SCID: T Cell Lymphopenia * / Secondary causes TCL:** / idiopathic TCL:. You should.

  • Follow up with a local pediatric immunologist at your discretion, consult a geneticist or other non-specialist depending on the comorbidity (eg, cardiologist, pediatric surgeon, community pediatrician)

  • Get informed consent for genetic testing

  • to do: PID: exome panel (Manchester և: GOSH)

  • Consider seeking genetic counseling if you have a positive genetic result

  • Depending on the level of T այլ other functions of immune cells, start.
    • co-trimoxazole prophylaxis և antifungal fungal treatment
    • antibody replacement
  • Make sure the patient has all non-live vaccines within the first 6 months if the immunoglobulin has not started (exclude live vaccines, e.g. BCG:, rotavirus, MMR:, V Z V:)

  • from 6 weeks to 3 months, depending on the level of the immune disorder և clinical scenario

The end of the road.


No. SCID: T cell lymphopenia

Nijmegen rupture syndrome, Nuna,GO AR YQ: , Schimke immunosuppressive dysplasia, Down syndrome (trisomy 21),FACTS: , Ataxia telangiectasia, Jacobsen, Tar, DiGeorge, Cytogenetic abnormality,ECC:

, Cartilage hair hypoplasia, Rac2 defect, Kabuki, Fryns syndrome, Renpenning, Dock8 Secondary causes: TCL:

(**) Congenital heart disease (except DiGeorge syndrome); Gastrointestinal disorders, such as intestinal lymphangiectasia և hydropsia; Neonatal leukemia և:


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