[CIS-PAGID] Partial CD4 deficiency, autoimmunity, bronchiectasis

[Dr. Carsten Speckmann]

  As pointed out by you there is for sure a T cell problem. What is the 
picture of the muscular hypotonia? Enamel defect?
Ca chanelopathies present with normal absolute lymphocytes, clinical T 
cell deficiency and sometimes (i.e. STIM1) with autoimmunity.

Carsten

Am 02.12.11 15:07, schrieb Eleonora Gambineri:

>

> Dear all I would like your inputs on the case below:

>

> 21 mo/old girl

>

> _FAMILY HISTORY_ unremarkable

>

> _MEDICAL HISTORY: _hx at birth unremarkable. At 7 mo of age she 

> started to suffer of recurrent respiratory infections (mainly 

> pneumonitis and bronchitis); at 15 mo: ? Enterovirus encephalitis (no 

> evidence at brain MRI and EEG, but positive PCR in liquor); afterwards 

> she had 4 pneumonitis (June-Sept 2011) with slow recovery

>

> _LAB W/U_

>

> Normal LFTs/U&E

>

> Immunological W/U:

>

> WBC 9900/ul L 27.6% (2732/ul), *Eo 22.6% (2237/ul)* N 40.4% B 1.7%, M 

> 3,8%; Hb 11 g/dl, ferritin 2,7 ng/ml

>

> *Partial CD4 deficiency* (400-500/ul) with *low/absent 

> CD4/CD45/CD31+* cells (absent TRECs) and expansion of memory phenotype 

> both in CD4 and CD8 subsets. Normal B cell numbers with good 

> percentage of memory B cells.

>

> Antibody responses: POSITIVE to measles and varicella, NEG to tetanus, 

> HBV, difteria, HSV IgG positive, EBV IgG/IgM negative, HHV6 IgG/IgM 

> negative

>

> IgG 900 mg/dl, IgA64 mg/dl, *IgM 233 mg/dl (increased), *IgE negative

>

> TCR repertoire: high Vb6-5, 6-6, 6-9 (on CD8)…not sure if done on CD4

>

> In vitro lymphocyte proliferation assay: low response to PHA and 

> aCD3/CD28+IL2 (However, it was not confirmed in another lab)

>

> Alpha feto-protein: *slightly deranged (13 UI/ml*, NV 0.1-4.9)

>

> Coombs POSITIVE IgG; ANA POSITIVE (1:1280); aTPO POSITIVE (normal 

> thyroid function)

>

> _Infection W/U_

>

> CMV PCR POSITIVE on BAL; Pseudomonas Positive on BAL

>

> CMV, Adeno, EBV PCR negative on blood

>

> _IMMAGING:_

>

> Chest CT: bronchiectasis; Thyroid US: normal, lateral-cervical LN with 

> increased size; Abdomen US: nil; Heart US: nil; Thymus should be 

> present, but ask to review the scan (results still pending)

>

> _O&E_

>

> Normal growth

>

> No signs of intestinal malabsorption

>

> Ligamentous Hyperlaxity

>

> Muscle hypotonia (normal EMG at lower body, partly altered at upper 

> body, anti AchR Ab ongoing)

>

> No dimorphisms (she was reviewed by Geneticist); No hair 

> alterations; No bone abnormalities (at femur X Ray, total skeleton 

> X-Ray TBD)

>

> No rash, but diffuse itchiness

>

> Chest: when in good conditions, crackles all over the chest with minor 

> distress. SatO2 in AA 93%, with episodes of desaturation at night. She 

> is at the moment on FKT.

>

> Liver: 1-2 cm below costal margin

>

> CV: systolic hypertension of unknown origin (no renal impairment, no 

> steroid treatment)

>

> _DIFFERENTIAL_

>

> At the moment the following condition have been excluded:

>

> - HLA I and II deficiency

>

> - ADA/PNP deficiency

>

> - RAG1/RAG2 mutations

>

> - IL7Ra deficiency

>

> - DGS (CGH array negative)

>

> - AT (aFP 13 is it indicative? no clinical signs?)

>

> - CHH, sequencing of RMRP ongoing at the moment

>

> Any other suggestion?

>

> We are assessing the patient to evaluate a possible HSCT from her 

> matched-sibling brother, although given the unknown nature of her 

> immune defects and the compromised pulmonary conditions do you think 

> it is feasible to proceed? My worry is regarding the thymus. What if 

> there is an unknown thymus defect (immune deficiency and 

> dysregulation)? This might question the immune reconstitution after 

> HSCT. On the other hand the infection history of this girl as well as 

> her immune function do not suggest a mild disease course and BMT seems 

> the only option. I know it is a tricky question, but I will really 

> appreciate your help.

>

> Thanks for your cooperation!

>

> Best wishes,

>

> Eleonora

>

> *******************************************************************

> Dott.ssa Eleonora Gambineri

> Ricercatore Universitario

>

> Universita' degli Studi di Firenze, Dipartimento di Scienze per la 

> Salute della Donna e del Bambino

> Ospedale Pediatrico "Anna Meyer", Dipartimento di Oncoematologia-Unità TMO

> Viale Gaetano Pieraccini, 24

> 50139 FIRENZE

> Tel 055 5662405 (ufficio)

>        055 5662606 (reparto T.M.O.)

> Fax 055 4221012

> e-mail: eleonora.gambineri at unifi.it 

> <mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it 

> <mailto:e.gambineri at meyer.it>

>

> Eleonora Gambineri, MD

> Researcher/Assistant Professor

>

> University of Florence, Department of Sciences for Woman and Child's 

> Health

> "Anna Meyer" Children's Hospital, Department of Haem/Onc-BMT Unit

> Viale Gaetano Pieraccini, 24

> 50139 FIRENZE

> ITALY

> Tel +39 055 5662405 (office)

>        +39 055 5662606 (BMT Unit)

> Fax +39 055 4221012

> e-mail: eleonora.gambineri at unifi.it 

> <mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it 

> <mailto:e.gambineri at meyer.it>

> ********************************************************************

>



-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de


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