[PAGID] Interesting case

[Paul Ogershok]

I just saw a 18 yo with diagnosis of red cell aplasia and
hypogammaglobulinemia diagnosed at age 14.  He was never sick prior to
age 14 and no family history of immunodeficiency.  Red cell aplasia
responded to cyclosporin and EPO in past. Over summer was taken off
meds
as hemoglobin was too high.  He became anemic again and is getting
blood
transfusions every 3 weeks despite back on CSA and EPO.   Pt on IVIG
for
2 years.  Pt also with daily fevers for 2 months.  He has enlarged
liver
and spleen.  Seen by multiple hematologists, rheumatologists, and
immunologists with no diagnosis. History of purpuric rash on lower ext
2
years ago, bx consistent with vasculitis.

Labs: WBC 7, Hgb after pRBC 10, Plt 229, PMN 33 LYM 52, Mono 12, low
retic count 

Albumin 3.6 - low normal, CH 50 - high, C3 and C4 normal, UA
normal 

LFT's mildly elevated twice normal but normal alk phos

IgA 29, IgG 393 on IVIG, IgM 13

Flow Studies
ABS B lymph count 25 (80-500)
ABS CD8 count 1617 (157-813)
CD56 3
CD19 1
CD3 96
CD4 22
CD8 72
ABS CD4 487
ABS T lymph 2156
ABS CD56 72 (140-440)
CD4:CD8 0.3

Mitogens pending
EBV PCR pending

(I am assuming in past vaccine titers prior to IVIG and parvovirus were
looked for, but currently I don't have that info)

Bone Marrow BX
- Red cell hypoplasia, marked.
- Hypercellular marrow (approximately 90% cellularity) with:
- Predominance of myeloid precursors with complete maturation.
 - Scant numbers of erythroid precursors with incomplete maturation.
- M:E ratio is estimated at greater than 20:1.
- Megakaryocytes appear increased in number.
- No lymphoma, granulomatous inflammation or metastatic tumor
identified

I saw a case of XLP in the literature similiar to this with red cell
aplasia, decreased CD4:CD8 ratio, hypogam, and undetectable B cells in
circulation.  Can you give me your opinion?

Thank you,

Paul Ogershok MD
pogershok at hsc.wvu.edu
Fellow Allergy/Immunology
West Virginia Univ. School of Medicine