[CIS PIDD] [cis-pidd] lymphohistiocytosis vs ALPS?

[Seppänen Mikko]

Or if ALPS fails, one of the “newer” PIDDs like

STAT3 GOF,

ADA2 deficiency with LGL lymphoproliferation (may only be found from the liver)

Mikko



dos Mikko Seppänen, LKT
Immuunipuutosv-o, HYKS

Mikko Seppänen, MD, PhD, Associate professor/Senior Lecturer
Specialist in Internal Medicine and Infectious Diseases
Senior Consultant, Physician in charge (PIDD)
Immunodeficiency Unit
Division of Infectious Diseases
Department of Medicine
Helsinki University Central Hospital
Hospital District of Helsinki and Uusimaa
Aurora Hospital, Ward 4-2 and Outpatient Clinic
P.O.Box 348
FI-00029 HUS, Helsinki
FINLAND
phone +358 9 47175923, fax +358 9 47175945



Lähettäjä: Wilmer Cordova Calderon [mailto:wilmer.cordova at gmail.com]
Lähetetty: 16. helmikuuta 2015 12:23
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] lymphohistiocytosis vs ALPS?

Best regards
In Lima Perú find this case that 2 years ago no find a specific diagnostic and child  disease is progressing and complicating other non-immune areas. We will be eternally grateful to your help and collaborating diagnosis.
Thamk you.

Problems:
1.        Recurrent pancytopenia associated
2.        frequent infections (Pneumonia)
background:
physiological
Psychomotor development 4m, sat at 7-8m, yearling way.
Current treatment:
1. multivitamin Forkids
2. Captopril ¼ c / 24h-heart failure secondary portal hypertension.
Hospitalizations
1. 2nd 9m pneumonia and anemia Hb 4g%, thrombocytopenia 5d Huancayo
2. 3rd 6m pneumonia and anemia thrombocytopenia hepatosplenomegaly 7d Huancayo
3. Pneumonia anemia thrombocytopenia 6m 4th cervical lymphadenopathy 5d Huancayo
4. 5th pneumonia and anemia thrombocytopenia 5d Huancayo Transfusion PG:
5. 5th (October 2014) purulent lymphadenopathy, anemia, thrombocytopenia CMV, HTP, dilated heart disease and anemia Transfusion 5d PG:
infections:
1. Intestinal infections 3v the first year. furoxone antibiotic.
2. SOB 1ª6m.
Metabolic studies. Liver biopsy with normal results.
Transfusions: PG 4 chances.
02/11/2015
October 2014 Table 1. Respiratory, painful cervical lymphadenopathy, content purulent drainage, PCR for CMV 394 copies / ml (positive> 200), pancytopenia (leukocytes 3150, HB 6.6, platelets 107, 000, creat 0.31, FA 1423, reticulocytes 4 %) fever, jaundice.
Eco doppler: HT Portal.
TEM TAP: hepatosplenomegaly (liver 164mm, 215mm spleen), liquid perisplenic, multiple retroperitoneal lymph nodes, mesenteric, iliac and inguinal up to 15mm.
Cervical Doppler ganglion formations with central and peripheral vasculature, reagent aspect, in the context of lymphoproliferative aspect.
Pulmonary moderate to severe dilated cardiomyopathy, pericardial effusion, mild systolic dysfunction FE 55% PSAP 62 mmHg HT echocardiography.
Treatment: Meropenem and vancomycin; Intravenous Ganciclovir, with improvement of lymphadenopathy and infectious picture.
•        Biopsy of cervical and inguinal lymphadenopathy: Lymph node with reactive changes predominance of hyperplasia and sinus histiocytosis T zone with occasional eritrofagocitosis. Fibrosis; discrete architectural distortion. CMV neg, CD20 + lymph B, CD3 + in Lymphoma T, DTT neg, CD10 + in follicular centers, Ki67 + cells in replication.
Nonspecific reactive lymphoid hyperplasia, immunohistochemistry negative for lymphoid neoplasia, immunoreaction for LMP1 negative.
Control abdominal Ecodoppler: higado135mm, spleen 166mm.
CMV viral load <200 copies / ml
Dilated cardiomyopathy, mild systolic dysfunction FEvi55% HT moderate pulmonary PSAP 47 mmHg
02.11.15 Cold symptoms. Lymphadenopathy multiple cervical, axillary and inguinal approx 2cm phones.
Diagnosis
1. Primary Immunodeficiency Vs High.
2. d / c Lymphohistiocytosis recurrent infectious reactive vs ALPS
3. Secondary hypersplenism
4. Hypertension Portal
5. Pulmonary Hypertension
6. dilated cardiomyopathy.
3.        CMV infection treated

Marzo 14
Linfos totales        1630
Cd4        349        21%
Cd8        929        57%
Cd3        1331
Linfos T cd45 cd3        1331        81
Cd19        57        3%
NK                45
nkt                3.4
Abril 14
IgA        168
IgG        3177
IgM        282
IgE        8

--
Atte
Wilmer Córdova
Inmunología Alergología
Instituto Nacional de Salud del Niño - Perú
http://www.isn.gob.pe<http://www.isn.gob.pe/>
wcordova at insn.gob.pe<mailto:wcordova at insn.gob.pe>
facebook.com/<http://facebook.com/>wilmer.cordova.71
twitter: @wilmer_cordova

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