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

[Harville, Terry O]

Juan,

The test results look like hyper-gammaglobulinemia for age, reduced CD4 T lymphocytes for age, normal C3 and CD4 levels, but with thrombocytopenia, hemolytic anemia with low positive ANA and dsDNA, and lymphadenopathy.  Considering these, SLE or MCTD could be in the differential.   Additionally, these features could be consistent with HIV infection.

Terry Harville MD PhD
-Medical Director, Special Immunology Laboratory
-Medical Director, Histocompatibility Laboratory
-Medical Director, Immunogenetics and Transplantation Laboratory
-Specialist in Pediatric Immunology and Rheumatology
Departments of Pathology and Laboratory Services and Pediatrics
University of Arkansas for Medical Sciences
4301 West Markham
Mail Slot #502
Little Rock, AR  72205-7199

Work Phone 1.....................................................................501.686.7257
Work Phone 2.....................................................................501.526.7511
Work Phone 3.....................................................................501.686.7556
Work Phone 4.....................................................................501.364.1885
Work Fax 1..........................................................................501.686.7443
Work Fax 2..........................................................................501.526.4621

Email..............................................................harvilleterryo at uams.edu

Special Immunology Laboratory......................................501.364.1804
Histocompatibility Laboratory..........................................501.686.7257
Immunogenetics and Transplantation Laboratory.........501.686.7374

From: Juan Carlos Aldave Becerra [mailto:jucapul_84 at hotmail.com]
Sent: Wednesday, September 04, 2013 7:50 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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