[CIS PIDD] [cis-pidd] Patient with suspected PID

[Juan Carlos Aldave Becerra]

Dear colleagues,
I would appreciate your thoughtful insights about this patient. I apologize that some routine laboratory tests are not yet available in my country, such as lymphocyte proliferation tests, CH50 or antibody response to pneumococcus.
Girl, 2 years 11 months of age

Date of birth: October
15th 2010




FAMILY HISTORY:

-      
One
healthy 18 year-old brother.
Healthy parents.

-      
No
consanguinity.

 

PERSONAL HISTORY:

-     Weight
at birth: 3712 g; no neonatal complications.

-     No
adverse reaction to BCG.

-       Current weight:
12 kg (Percentile 10)

 

CURRENT DISEASE:

-      
8
months of age (patient was treated in another hospital): pneumonia complicated
with empyema, required thoracic drainage and mechanical ventilation, no
microorganisms were isolated, received broad-spectrum antibiotics. Since that date,
she has been diagnosed with about six episodes of ‘pneumonia’ (in other
hospitals).

-      
From
9 months of age: recurrent bronchospasm, several courses of inhaled steroids.

-      
1 year 5 months of age: urinary tract infection, no microorganisms were
isolated, received antibiotics.

-      

>From 1 year 5 months of age: recurrent episodes of

oropharyngeal and vaginal candidiasis, some superficial skin lesions suggestive
of fungal infection, no nail involvement; no upper GI endoscopy has been
performed; transient recovery with oral fluconazole.

-      
2
years 5 months of age: serositis, hemolytic anemia (positive direct
Coombs), thrombocytopenia, positive antinuclear antibodies (1:80), positive
dsDNA antibodies (1:10); received systemic steroids for about 2 months; good
response.

-      
Several
episodes of diarrhea (about 10 in her life), sometimes with fever, never with blood, no
microorganisms have been isolated.

-      
Now
she has been admitted in my hospital with a suspected pneumonia. She has mild
oral thrush and few skin lesions suggestive of fungal infection.

 

WORK UP:

March-April 2013:

-       IgG=1794, IgA=119, IgM=206 mg/dL, IgE=20.8 U/mL

-         CD4+ T cells=887; CD8+ T cells=1047; B cells=2398; NK cells=131/mm3

-      
Complement
proteins (C3, C4, C1, C1q, C2): within normal levels

-      
Positive antinuclear antibodies (1:80)

-      
Positive dsDNA antibodies (1:10)

-      
Positive
CMV-IgG, negative CMV-IgM

-      
Negative
serology for EBV

-      
CT (paranasal sinuses): bilateral ethmoidal sinusitis

-      
CT (thorax and abdomen):
peribronchovascular interstitial accentuation; normal thymus; mild hepatomegaly, no splenomegaly.

-      
Neck
ultrasonography: enlarged submandibular lymph nodes (2 of about 2 cm, 2 of
about 1 cm)

-      
Renal
biopsy: mild mesangial proliferation.

-      
Bone
marrow aspirate: no leukemia

July 2013:

-      
Hb=9.9
g/dL; platelets=500,000; WBC=12,930; neutrophils=8,780; lymphocytes=2,890;
monocytes=1,190; eosinophils=40, basophils=30/mm3

-      
Negative
antinuclear antibodies

 

DIAGNOSIS:

- I have thought in STAT1 GOF (candidiasis -although not severe-, autoimmunity, suspected bacterial infections, normal immunoglobulins, normal T, B and NK lymphocyte counts).
Thank you very much,
Juan Carlos AldaveAllergy and Clinical ImmunologyRebagliati Martins National HospitalLima-Peru

 		 	   		  
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