[CIS PIDD] [cis-pidd] VS: 2 y/o with progressive lymphopenia, elevated transaminases

[Seppänen Mikko]

Progressive lymphopenia + autoimmunity(?)--> STAT1?
See
J Allergy Clin Immunol. 2013 Nov 13. pii: S0091-6749(13)01479-6. doi: 10.1016/j.jaci.2013.09.032. [Epub ahead of print]
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.
Sharfe N, Nahum A, Newell A, Dadi H, Ngan B, Pereira SL, Herbrick JA, Roifman CM.

Mikko Seppänen, MD
Helsinki, Finland

________________________________
Lähettäjä: Scurlock, Amy M [mailto:ScurlockAmyM at uams.edu]
Lähetetty: 8. tammikuuta 2014 23:55
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] 2 y/o with progressive lymphopenia, elevated transaminases

Dear colleagues-

Our group has been puzzled by a challenging patient and we would welcome your expertise in the further evaluation and management of this little boy.  One of my partners has been his primary immunologist and has put together the history below.  Thank you in advance for your thoughts on this patient, we welcome your expertise.  Amy

CASE HISTORY:
-2 year old Caucasian male, no known family history of immunodeficiency.
-Presents in July 2013 with jaundice.
                -AST/ALT in 2000-3000 range
                -workup including multiple viral PCRs negative
                -CBC at that time showed ALC of 2000
                -Liver biopsy shows portal and lobular infiltrates of lymphocytes and eosinophils
-Immunology consulted October 7, 2013 to "rule out immunodeficiency as a cause of hepatitis (LFTs had decreased to low 100s at this point)
-History significant for prolonged and frequent viral upper respiratory tract infections and otitis media status post PE tube placement, as well as one episode of RSV bronchiolitis.
-Exam revealed normal, healthy appearing boy with no major abnormalities noted on exam
-Laboratory studies on October 7, 2013 showed:
                -CBC: WBC count 4600. 65% Neutrophils, 22% Lymphs (ALC 1010), 12% Mono, 1% Eos
                -Normal platelets
                -Flow cytometry:
                                -CD2+ - 35% - absolute 354
                                -CD3+ - 31% - absolute 314
                                -CD3+/CD4+ - 13% - absolute 132
                                -CD3+/CD8+ - 8% - absolute 81
                                -CD3-/CD16+/CD56+ - 8% - absolute 81
                                -CD4:CD8 ratio 1.6:1
                                -CD4/CD45RO=76%, CD4/CD45RA=24%
                                -CD8/CD45RO=23%, CD8/CD45RA=77%
                                -CD20+ - 58% - absolute 587
                -Mitogens:
                                -PHA: 3% control, ConA: 21% control, PWM: 15% control
                -IgG= 368, IgA=33.5, IgM=21.2
                -Protective responses to tetanus and diptheria, 3/14 pneumococcal serotypes
                -Prophylaxis with TMP/SMx started, IVIG started

Lymphopenia has continued to progress, CD3 count 250 or less on recent studies.  TRECS were very low, TCR vbeta repertoire showed normal diversity.  Liver enzymes decreased to approx 100 in Sept-Oct 2013, but have increased again in December 2013 back up to 1000 range

Genetic testing negative/no mutations for  the following:  B+ SCID Variants (CD3 defects, IL2R gamma chain, 1L7R, JAK3, PNP, PTPRC, RMRP, ZAP70, normal SNP microarray for 22q11, WASp

PENDING STUDIES:  Genetic testing for B+ SCID disorders, PCR for HHV6,7; maternal engraftment studies
Genetic testing pending for B- SCID phenotypes


Amy M. Scurlock, M.D., F.A.A.P
Associate Professor, Department of Pediatrics
Division of Pediatric Allergy/Immunology
University of Arkansas for Medical Sciences
Arkansas Children's Hospital
13 Children's Way, Slot 512-13
Little Rock, Arkansas 72202
Phone: (501) 364-1060
Fax: (501) 364-3173


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