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

[Juan Carlos Aldave Becerra]

Dear Laura,She has negative HIV ELISA.Best regards,Juan

> Date: Thu, 5 Sep 2013 15:27:42 -0500

> From: Laura.Hoyt at childrensmn.org

> To: cis-pidd at lists.clinimmsoc.org

> Subject: Re: [cis-pidd] Patient with suspected PID

> 

> This could all fit with HIV infection.

> Laura Hoyt MD

> Children's Hospitals and Clinics of Minnesota

> 

> >>> Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com> 9/4/13 19:50 PM

> >>>

> 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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