1. A CASE REPORT OF A 4 MONTH OLD BOY WITH SEVERE COMBINED IMMUNODEFICIENCY DISORDER
Mutua C, Karimi. D, Irungu. A, Patil. R, Ngwatu. P, Manguyu W Kiptum D Gertrude’s Children Hospital Nairobi, Kenya

2. Outline Background Methods Case presentation Discussion Conclusion
References

3. Background 4 month old boy Diarrhoea and vomiting for 1 week
Difficulty in breathing, poor breastfeeding for one day.
Treated severally as an outpatient for reflux, Rotaviral GE and Eczema
Rotavirus vaccine was given
Second and only child in the family
First born sibling died at age 4 months with pneumonia

4. Haemogram RBC-MICROCYTIC HYPOCHROMIC CELLS.
WBC-MILD LYMPHOPENIA,NO ATYPICAL CELLS SEEN
PLATELETS-ADEQUATE

9. Management Antimicrobials Respiratory support
Intravenous immunoglobulins
Psychoeducation to the family
Isolation for barrier nursing
Advised on a bone marrow transplant

10. Progress after diagnosis
Admitted thereafter for 6 times
With sepsis, rotavirus GE
For monthly IVIG
Succumbed at 11 months

11. SCID (Severe combined immunodeficiency )
Life-threatening syndrome
Recurrent infections, diarrhoea, dermatitis, failure to thrive.
Caused by numerous molecular defects leading to compromise in the number and function of T cells B cells, natural killer (NK) cells.

12. Epidemiology The incidence reported at approximately 1 in 50,000
Average age at symptom onset, 2 months; mean age at diagnosis, 6.5 months
The overall male-to-female ratio is 3:1
No racial predisposition exists

13. Pathophysiology
Results from mutations in any of more than 15 known genes
Molecular defects block the differentiation and proliferation of T cells and B cells and NK cells.
Antibody production is impaired because of the lack of T-cell help
Loss of immunity results in opportunistic infections

14. Genetic defects Mutation of the common γ chain of the interleukin (IL)
Autosomal recessive SCID includes the following deficiencies:
Janus-associated kinase 3 (JAK3) deficiency
Adenosine deaminase (ADA) deficiency

15. Diagnosis Complete blood count, serum immunoglobulin levels
Lymphocyte markers (differentiate forms of SCID)
Lymphocyte function assessment
Molecular studies to identify genetic defects
Autopsy: thymus, peripheral lymphoid tissues
Chest radiograph: thymus, pneumonia
Prenatal diagnosis, Newborn screening test

16. Management Pharmacologic prophylaxis against infection
IVIG replacement therapy
Haematopoetic bone marrow transplantation(HBMT)
Enzyme replacement
Gene Therapy

17. Management.. Isolation, strict infection prevention
Irradiated and lymphocyte deplete blood transfusions
Empiric broad spectrum antimicrobials
Avoid live vaccines

18. Conclusion SCID is a pediatric emergency
HBMT is the primary treatment of choice
Patients treated with HBMT before age 3.5 months have better survival 97% vs 77%.
High index of suspicion key to early diagnosis

19. References
Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol Feb. 125(2 Suppl 2):S
Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, et al. Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencing. Scand J Immunol Jan 21.
Liao CY, Yu HW, Cheng CN, Chen JS, Lin CW, Chen PC, et al. A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing. J Microbiol Immunol Infect Mar 2.
Railey MD, Lokhnygina Y, Buckley RH. Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis. J Pediatr Dec. 155(6): e1.

20. Thank you