[CIS PIDD] [cis-pidd] Question from Juan Carlos Aldave

[Juan Carlos Aldave Becerra]

Dear professors,Thank you for your kind suggestions.- Dr. Borzutzky, I have also thought of STAT5b deficiency, I wonder if clinical manifestations can present at 9 years of age (before that age the patient was apparently totally healthy, including body growth). Can I send you a sample for STAT5b sequencing?- Dr. Risma, I would be glad to know if you performed any genetic testing for an underlying PID, and what was the clinical course of your patient's disease. I do not think that the severe growth arrest is due only to systemic inflammation. I would appretiate your suggestions about therapy.- Dr. Sokolic, I also think that the eosinophilia is secondary. The flow citometry result did not report if the CD8+CD45RO+ T cells were DR+. I will discuss with the caring physicians about performing a liver or lymph node biopsy.
I will keep you updated,Sincerely,
Juan Carlos Aldave, MDAllergy and Clinical ImmunologyHospital Nacional Edgardo Rebagliati MartinsLima, Peru

> From: sokolicr at mail.nih.gov

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

> Subject: Re: [cis-pidd] Question from Juan Carlos Aldave

> Date: Mon, 5 May 2014 14:32:59 +0000

> 

> With hepatosplenomegaly, lymphadenopathy, HTLV-1 positivity, and a preponderance of CD4+CD45RO+ and HLA-DR+ T-cells, I would want to rule out chronic or smoldering ATLL. In this case, the eosinophilia would be secondary. Are the CD4+CD45RO+ cells also DR+? Would biopsy a LN or liver. ATLL wouldn't explain growth hormone insensitivity, so it might not all fit together, but I think biopsy is indicated in any case.

> Rob Sokolic

> 

> From: <Sullivan>, Kathleen <sullivak at mail.med.upenn.edu<mailto:sullivak at mail.med.upenn.edu>>

> Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>

> Date: Monday, May 5, 2014 9:59 AM

> To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>

> Subject: [cis-pidd] Question from Juan Carlos Aldave

> 

> Dear professors,

> 

> I evaluated this week a 16 yr-old boy with a very puzzling clinical picture. I describe below the clinical history.

> 

> The main features are:

> - HTLV-1¨Cinduced infective dermatitis

> - Deep skin ulcer infected by Pseudomona aeruginosa and Stenotrophomonas maltophilia

> - Immune abnormalities: low naive CD4+ T cells, marked T-cell activation, low B-cell counts, marked eosinophilia

> - Arrest of body growth and sexual development: insensitivity to growth hormone? (low GH, high IGF-1)

> - Anemia, hepatosplenomegaly

> - Marked hypoalbuminemia

> 

> I would appreciate your expert insights and suggestions.

> Thank you very much.

> 

> 

> Lima, Peru

> 

> -----------------------------

> May 3rd 2014

> Boy, 16 years of age

> Date of birth: August 23rd 1997

> Blood group: A Rh(+)

> 

> 

> 

> FAMILY HISTORY:

> -       No family members with suspicion of PID.

> -       2 half-brothers and 4 half-sisters (some mother), all healthy.

> -       No consanguinity.

> 

> 

> 

> PERSONAL HISTORY:

> -       Weight at birth=2500 g

> -       No adverse reaction to BCG.

> -       Current weight=24 kg (very low for age)

> -       Current height=126 cm (very low for age)

> 

> 

> 

> CURRENT DISEASE:

> -       Completely healthy up to 9 years of age (weight at that time=36 kg).

> -       From 9 years of age: abdominal erythema with blisters, desquamation and scaling; relapsing course with progressive expansion to all the body; partial response to high-dose systemic corticosteroids. Recurrent fever, general malaise.

> -       From 9 years of age: arrest of body growth and sexual development.

> -       One episode of thrush at 10 years of age while taking systemic corticosteroids.

> -       ¡°Pneumonia¡± one year ago, required intravenous antibiotics, no microorganisms were isolated.

> -       One month ago, an ulcer appeared on the right buttock. The ulcer has expanded progressively. Culture of the secretion: Pseudomona aeruginosa. Blood culture: Stenotrophomonas maltophilia.

> -       No chronic or recurrent diarrhea.

> 

> 

> 

> PHYSICAL EXAM:

> Growth delay (patient appears like a 9-year-old child).

> No development of secondary sex characteristics.

> Diffuse erythematous scaling all over the body (please see the attached photographs).

> Deep ulcer of about 10 cm on the right buttock.

> 

> 

> 

> WORK UP:

> April 10th, 2014:

> -       Hb=7.8 g/dL; platelets=438,000; WBC=7,650; neutrophils=5,620; lymphocytes=1,550; monocytes=240; eosinophils=200, basophils=40/mm3

> April 25th, 2014:

> -       Hb=10.6 g/dL (after blood transfusion); platelets=645,000; WBC=16,470; neutrophils=3,730; lymphocytes=3,030; monocytes=570; eosinophils=8,490, basophils=200/mm3

> -       Serum glucose, urea and creatinine: within normal limits

> -       C-reactive protein=2.57 mg/dL

> -       Albumin=1.63 g/dL; total bilirubin=0.39 mg/dl; lactate dehydrogenase=292 mg/dl; AST=30 U/L; ALT=31 U/L; ¦Â2 microglobulin=4.73 mg/L

> -       IgG=2159, IgA=373, IgM=340 mg/dL, IgE¡Ý2000/mL

> -       IgG to CMV and toxoplasma: positive titers

> -       IgM to EBV, CMV, toxoplasma and rubella: negative

> -       Serology for HBV, HCV and HIV: negative

> -       Antibodies to HTLV: reactive 118.87 (normal values <1)

> -       Stool analysis for ova: negative.

> -       CT: mild left pleural effusion with atelectasis; no mediastinal or axillary lymphadenopathies; homogeneous hepatosplenomegaly; retroperitoneal left para aortic lymphadenopathies.

> -       Cardiac US: normal systolic function, mild diastolic dysfunction of the left ventricle.

> -       Skin biopsy: hyperkeratosis with parakeratosis and microabscesses; psoriasiform acanthosis; edema in the papillary dermis; marked chronic perivascular inflammatory infiltrate with extension to the papillary dermis; abundant eosinophils; incontinentia pigmenti.

> April 30th, 2014:

> -       Hb=8.1 g/dL; platelets=585,000; WBC=15,780; neutrophils=5,210; lymphocytes=3,140; eosinophils=6,560/mm3

> -       ESR=45 mm/h; C-reactive protein=3.04 mg/dL

> -       Albumin=1.73 g/dL; bilirubin and liver enzymes within normal levels; 9 mg/dl; lactate dehydrogenase=292 mg/dl; ¦Â2 microglobulin=6.33 mg/L

> -       Vit B12 >1000 pg/mL; folic acid within normal levels.

> -       Free T3=1.64 pg/mL (normal values: 1.80-4.2)

> -       Free T4, TSH, prolactin, ACTH (8 a.m.), LH, FSH: within normal levels

> -       Growth hormone=11.1 ng/mL (normal levels <3)

> -       IGF-1 (somatomedin C) <25 (normal levels: 193-731)

> -       Total lymphocytes=3140

> -       CD3+ cells=2587 (21% are DR+)

> -       CD4+ cells=1878

> -       CD4+CD45RA+ T cells=10%; CD4+CD45RO+ T cells=90%

> -       CD8+ cells=647

> -       CD8+CD45RA+ T cells=65%; CD8+CD45RO+ T cells=35%

> -       TCR¦Ã¦Ä CD3+ cells=1.3%

> -       TCR¦Á¦Â DN CD3+ cells=2%

> -       CD19+ cells=104 (3.3%)

> -       CD56+ cells= 371 (11.8%)

> -       CD3+CD56+ cells= 47 (1.5%)

> -       Proteinuria=758 mg/day (normal values <150 mg/day).

> Kate Sullivan, MD PhD

> Wallace Chair of Pediatrics

> Professor of Pediatrics

> ARC 1216 Immunology CHOP

> 3615 Civic Center Blvd.

> Philadelphia, PA 19104

> (p) 215-590-1697

> (f) 267-426-0363

> 

> 

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