[CIS PIDD] [cis-pidd] A disorder of immunodysregulation?

Mon Aug 28 13:28:33 EDT 2017

Dear all

A friend of mine is dealing with a perplexing case who has eczema,
immunodeficiency, and autoimmunity. Any suggestions for further
investigations and management would be greatly appreciated.

1 year 5 month male child born of non-consanguineous marriage was
apparently normal till 7 months of age

*Issues:*

1. Chronic diarrhea/ failure to thrive/ malabsorption - onset at age of 10
months .He was having a steady weight gain upto 10 months and weighed 6.5
kgs at 10 months.He is currently on Soy based and proteinhydrolysate
formula feeds,but persisting to have loose stools

2. Autoimmune hemolytic anemia (DCT2 + )required one transfusion for severe
anemia .He is presently  on steroids (oral prednisolone)

3. Polyuria/ polydipsia multiple admission for dehydration,
dyselectrolytemia.

-Modified water deprivation test which was not conclusive of Diabetes
Insipidus

had microscopic hematuria managed conservatively.

4. Immunodeficiency - has low serum IgA levels - 3mg/dl (IgG/ M/E normal)

                                     absolute CD3 CD4 and CD8 below normal

5.History of eczema at 5 months of age.Now has dermatitis and dry
skin?Nutritional

*Past History:*Treated for Lower respiratory infections -3 episodes from 7
to 10 months-Treated with nebulisations- no organisms isolated

*Birth History:*

Preterm/35 weeks/Born by emergency LSCS- Antenatal oligohydramnios

Was in NICU for 4 days/CPAP for one day.Exclusively breast fed upto 6
months of age

*Family history :* Mother was being treated for autoimmune hemolytic
anemia, had 2 spontaneous abortions, diagnosed to have APLA during this
pregnancy was treated with heparin.

Maternal grand father h/o rheumatoid arthritis

*WORK UP*:

Complete Hemogram-Hb LOW (5 g/dl at presentation)  total white cells-19300
(N67, L30, M 2, E 1) PLATELETS low normal 1.5 to 2 lac ,Mean Platelet
Volume-Normal

*Direct Coombs test ++*

Renal function tests- serum creatinine normal

LFT: SGOT/ SGPT- normal, Serum albumin 2.3, alkaline phosphatase 770

STOOL ROUTINE *CRYPTOSPORIDIUM OOCYST ++* TREATED ADEQUATELY FOR THE SAME

stool ocult blood negative.

Retoviral status-Negative

*Serum- C3-27.4 (80-156)-low*

*Serum C4-<6.65(12-43)-low*

*ANA(Immunoflourescence)-Weak positive*

*Extended Panel of Antibodies-Multiple antibodies were positive*

Anticentromere antibody=*39.4*(<20)

Antii JO-1                            =*45.25(*<20)

Anti-Scl-70                          =*40.45*(<20)

Antismith                            =*34.18*(<20)

SSA                                       =*39.91*(<20)

U1RNP Ab                           =*32.5*(<20)

Anti cardiolipin Ab            =7.45(12)

Anti phopholipid Ab IgM-*18.47*(<10)

Lupus anti coagulant =Negative

RA factor +

GI scopy UGI scopy AND Colonoscopy normal

Biopsy mild chronic duodenitis

T3, T4 , TSH normal

Celiac antiobodies -TTG-Ig A negative

*Anti gliadin antibody + =34.18(<25)*

*Serum Immunoglobulin Prolife*

IgG=611 mg/dl(340-1200)

IgA=3 mg/dl(15-110)

IgM=67 mg/dl(45-200)

*Flowcytometry*

CELL

RESULT

REFERENCE

UNIT

CD3+(Tcells)

*18.64*

53-81

%

CD3+(Absolute count)

664

1460-5440

Cells/ul

CD3+CD4+

*9.52*

31-54

%

CD3+CD4+(Absolute count)

339

1020-3600

Cells/ul

CD3+CD8+

*7.88*

16-38

%

CD3+CD8+(Absolute count)

281

570-2230

Cells/ul

CD3-/CD19+

54.90

11-45

%

CD3-/CD19+(Absolute count)

1536

430-3300

Cells/ul

CD3-/CD56+

10.52

3-19

%

CD3-/CD56+(Absolute count)

294

80-340

Cells/ul

T4/T8 RATIO

1.21

1.17-6.62

Targeted gene sequencing(Exonic) for Primary Immunodeficiency: *No
mutations detected in FOXP3 / STAT1/ STAT5B/IL10/IL10 RA/IL10RB/IL2RA *

Kindly provide inputs for further management.

Thank you.

Vignesh P
MD Pediatrics,
DM resident in Pediatric Clinical Immunology and Rheumatology (Jan 2015-
Dec 2017),
Allergy Immunology Unit, Advanced Pediatrics Center,
Postgraduate Institute of Medical Education and Research,
Chandigarh, India. 160012.
E mail: vigimmc at gmail.com
Phone no: +91-9592047009, +91-9944547009

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