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

[Juan Carlos Aldave Becerra]

Dear Dr. Giclas,
I said that the CH50 test was not done because of lack of availability in my hospital. I will look in local private labs if they offer it.
Thank you very much,
Juan


> From: GiclasP at NJHealth.org

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

> Date: Wed, 4 Sep 2013 19:17:54 -0600

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

> 

> You mention CH50 but I don't see a result.  The complement levels you have done don't rule out complement deficiency and it would be prudent to do at least the CH50 for functional complement evaluation, and also the AH50 for the alternative pathway and late component evaluation.  With the results from these two tests it is easier to know if there is a likely missing component and which pathway it is in.  For C2 deficiency we have found several patients who had normal or near normal C2 levels but no function, so including the functional screen is critical.

> 

> Sincerely,

> Patsy Giclas

> 

> Patricia C. Giclas, PhD

> Professor, Pediatric Allergy and Immunology

> Director, Diagnostic Complement Laboratory

> Advanced Diagnostic Laboratories

> National Jewish Health

> Denver, CO, 80206

> 

> office:  303-398-1217

> fax:      303-270-2128

> giclasp at njhealth.org

> ________________________________________

> From: Juan Carlos Aldave Becerra [jucapul_84 at hotmail.com]

> Sent: Wednesday, September 04, 2013 6:50 PM

> To: CIS-PIDD

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

> 

> 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 Aldave

> Allergy and Clinical Immunology

> Rebagliati Martins National Hospital

> Lima-Peru

> 

> 

> 

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