A CASE REPORT OF A 4 MONTH OLD BOY WITH SEVERE COMBINED IMMUNODEFICIENCY DISORDER - PowerPoint Presentation

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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 DGertrude’s Children Hospital Nairobi, Kenya

Outline

BackgroundMethodsCase presentationDiscussionConclusionReferences

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 EczemaRotavirus vaccine was given

Second and only child in the family First born sibling died at age 4 months with pneumonia

Haemogram

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

Investigations

Investigations

Investigations

Investigations

Management

AntimicrobialsRespiratory supportIntravenous immunoglobulinsPsychoeducation to the familyIsolation for barrier nursingAdvised on a bone marrow transplant

Progress after diagnosis

Admitted thereafter for 6 times With sepsis, rotavirus GEFor monthly IVIGSuccumbed at 11 months

SCID (Severe combined immunodeficiency )

Life-threatening syndromeRecurrent 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.

Epidemiology

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

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 helpLoss of immunity results in

opportunistic infections

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

Diagnosis

Complete blood count, serum immunoglobulin levelsLymphocyte markers (differentiate forms of SCID)Lymphocyte function assessmentMolecular studies to identify genetic defectsAutopsy: thymus, peripheral lymphoid

tissuesChest radiograph: thymus, pneumoniaPrenatal diagnosis, Newborn screening test

Management

Pharmacologic prophylaxis against infectionIVIG replacement therapyHaematopoetic bone marrow transplantation(HBMT)Enzyme replacementGene Therapy

Management..

Isolation, strict infection preventionIrradiated and lymphocyte deplete blood transfusionsEmpiric broad spectrum antimicrobialsAvoid live vaccines

Conclusion

SCID is a pediatric emergencyHBMT 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

References

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Ö, et al. Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencing.

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Immunol

. 2017 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

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. 2018 Mar 2

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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

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Thank you