[CIS-PAGID] case

[Sabiha Anis]

Dear colleagues
 
I am stuck with 4 cases
 
We were consulted for the work-up of possible PID for four children of one family aged 5-13 years from Dermatology ward born of consanguineous marriage, non-
 
vaccinated, 
 
The pedigree is as follows  
 
Child A: 23 years female, Child B: 16 years female, child C: 13 years female, Child D: 12 years male, child E: 10 years male, child F: 5 years female and child G: 2 
 
years male 
 
A,B and G are healthy while C to F are patients suffering from maculopapular rash converting to pustules and fever off/on since 4 years of age, ulcerative lesions on 
 
skin and extensive scarring resulting in contractures at various sites on trunk abdomen and limbs  
 
Receiving oral antibiotics off/on with incomplete remission, 
 
JD lymph nodes were not palpable.  Rest of the LN examination could not be done due to severe painful condition
 
U/S showing hepatosplenomegaly in all
 
CT scan gen lymph adenopathy in all and bronchiectatic changes (rt lung) with compensatory emphysema in (lt lung) in patient C
 
Skin histopathology non-sp necrotizing inflammation in all and fibrous histocytoma in patient C
 
All were positive for anti-HCV, anti-EBV IgG and negative for EBV on PCR.  NBT normal, Serum IgG, A, M normal or slightly raised.  P.film N/N, leukocytosis 
 
(77.6, 33, 39 and 46.5 x 103/ μl respectively) with relative neutrophilia (80-90% neutrophils) and 8% eosinophils left shift neutrophilia in patient C.  
 
All patients have raised ESR and CRP, ANA weak pos in Patient C-E and neg in patient F, C4 low in patient C & D and C3 normal in all. IgE raised in patient F 
 
(3310IU/ml)
 





Investigations

Patient C

Patient D

Patient E

Patient F


CD3 (T cells)/ μl 
CD3+4+
CD3+8+

6629
5053
1589

3619
2293
1308

3685
2270
1760

5456
2690
2479


CD19 (B cells):

2314

555

971

1224


(NK cells): 

207

327

239

901


Pus C/S
 
Blood C/S

Proteus.M, S.aureus X2,
S.aureus,,

Proteus.M, Klebsiella, pseudomonas,
S.aureus

S.aureus (MSSA)
 
Klebsiella (recent)

Streptococci
 
Pseudomonas (recent)
 
All receiving ATT (emperically except patient A has active smear pos TB).  Delta is being given to patient F only and she has shown improvement.  
 
Patient E & F are also receiving antibiotics for their recent positive blood cultures 
 
Punch skin biopsy for L/M and IFA given for one child, results awaited.
 
D/D:  bullous skin disease, TB, PID
 
I seek advice regarding further evaluation, diagnosis and management of these children
 
 
 
Regards
 
Sabiha Anis, FCPS (Immunology)
 
Asst Professor, Department of Molecular Diagnostics and Immunology
 
Sindh Institute of Urology and Transplantation, Karachi, Pakistan
 
  		 	   		  
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20120114/6569c9de/attachment-0001.html>