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

[Jason W. Caldwell]

I might consider CGD and a DHR.

Sent from my iPhone

On Sep 4, 2013, at 8:50 PM, "Juan Carlos Aldave Becerra" <jucapul_84 at hotmail.com<mailto:jucapul_84 at hotmail.com>> wrote:

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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