Dr Ranjith kumarDr Janani Sankar’s unit

Senior consultantKKCTH

Case history

2yrs,Male child 1st Born to non-consanguinous Apparently well till 5monthsH/O ulceration over left leg x 10daysH/O fever x 2daysH/O recurrent scalp ulceration, with

alopecia.Past H/O recurrent furuncles all over body

On examinationMultiple old healed scars of furunculosisA non healing ulcer over left leg with black

surfaceOtitis externa of right pinna & EAM with

black surfaceNear empty TONSILLAR FOSSACervical lymphnode were not palpableHepato-splenomegalySigns of malnutrition chelitis apthous ulcer

Investigations C.B.C:- Leucopenia -> neutropenia (A.N.C:32) Anemia . normal platelet countCoagulation work up : normal Mantoux : NRHIV: NRImmunoglobulin profile: Ig G: 7 (610-1380) Ig A: 4.3 (30-240)

panhypogammaglobuilinemia Ig M: 24 (20-134)Blood c/s: PseudomonasPus c/s : Pseudomonas & ESBL E coliN.B.T test: impairment of phagocytosis.

B & T cell flow cytometry: CD 3 T-cell : 92% (55-82) %CD19(earliest B-cell) : 0.05% (11-45) Absolute CD19 count : 02% (430-3300) Absolute CD3 count : 2788 (1900-5000) CD 19 defective –primary B cell defect

excluded Primary T cell defect & combined immunodeficiency

Possible D/D: Primary B cell defect Probable Agamma globulinemia –x-

linked/AR

TREATMENTIvIg 400mg/kg stat doseAntibiotics according to sensitivity patternDebridement for ulcerPCP prophylaxis: septran

Primary Immunodeficiency

Phagocytic18%

Antibody50%

Combined20%

Cellular10%

Complement

2%

Onset of Symptoms

Diagnosis of Primary ImmunodeficiencyHistory

Birth to 3 monthsPhagocytic cell defectsComplement defectsDiGeorge syndrome

3 to 6 monthsSevere combined immunodeficiency

(SCID)6 to 18 months

X-linked agammaglobulinemia18 months through adulthood

Common variable immunodeficiencyComplement defects

Eight or more new ear infections within 1 year.

Recurrent, deep skin ororgan abscesses.

Two or more serious sinus infections within 1 year.

Persistent thrush in mouth orelsewhere on skin, after age 1.

Two or more months on antibiotics with little effect.

Need for intravenousantibiotics to clear infections.

Two or moredeep-seated infections.

A family history ofPrimary Immunodeficiency.

Two or more pneumonias within 1 year.

Failure of an infant to gainweight or grow normally.

The 10 Warning Signs Of Primary Immunodeficiency

**adapted from Jeffrey Modell adapted from Jeffrey Modell FoundationFoundation

APPROACH IF SYMPTOMS S/O IMMUNODEFICIENCY

Intial screening- C.B.C, DC,ESR if

Nchronic neutrophilia ANC bact/fungal inf

unlikely

But signs of inf absent N

LAD Excludes cong & acq.neutropenia

LAD

B cell def approach

serum Ig levels

Low Ig A High Ig M All Ig low

Ig A def. Hyper IgM syn Agammaglobulinemia

CVID

FLOW CYTOMETRY Combined B&T disorder

EXCLUDE: corticosteroid intake

protein losing enteropathy

Agammaglobulinemia

FLOW CYTOMETRY

B cell number

Absent Present

X.L.A CVID prone for autoimmune dis Ig A

def. Hyper igM

syndr

For T cell defectScreening test: ALC

Skin test

Positive negative

Preclude T cell ds T cell subset

Flowcytometry

absent present

SCID sub pop

CD4/CD8

Primary Immunodeficiency Diseasesoccur when there is a defect in any one of the many steps during lymphocyte development

TREATMENT OPTIONS AVAILABLE FOR B CELL DISEASEStem cell Transplantation: CD40 ligand deficiency XLPIvIg 400mg/kg /month life long Anaphylactic reaction to IvIg CVID &IgA

deficiency

Antibiotic prophylaxis for PCP Co-Trimoxazole

TAKE HOME MESSAGE

Detailed history & clinical examination important

High index of suspicionConfirmation of diagnosis important Counseling of parents for next pregnancy