[CIS-PAGID] Opinions on APS suspect

[Terri Tarrant]

I have recently seen a 19 yo Caucasian female of non-consanguineous parents
who has had autoimmunity (hypothyroidism diagnosed age 3, celiac sprue
diagnosed pre-puberty with possible IBD overlap diagnosed age 18, and
Addison's disease diagnosed age  9), recurrent mucocutaneous candida
infections (oral thrush and esophageal candidiasis), varicella primary
infection at age 3 months with reactivation at 8 years and again at 16 years
of age, and absolute IgA deficiency with recurrent sinus infections.

Her humoral immunity work up at 4 years of age showed absolute IgA
deficiency, normal IgG, normal IgM, and normal titers to pneumococcal
strains, diphtheria, and tetanus.  Recent repeat work up (19 years of
age) shows normal IgG, normal IgM, absent IgA, absent IgE, normal tetanus
titers, normal HIB titers, and pneumococcal antibodies are pending.

Cellular immune work up from childhood was not available for our review.
Current flow cytometry reveals:
CD3% (T CELLS)" 72 % OF LYMPHS  61-86
ABSOLUTE CD3 CNT 725 L CELLS/UL 915-3400
CD4% (T HELPER)" 24 L % OFLYMPHS 34-58
ABSOLUTE CD4 CNT 242 L CELLS/UL 510-2320
CD8% T SUPPRESR" 44 H % OFLYMPHS 12-38
ABSOLUTE CD8 CNT 443 CELLS/UL 180-1520
CD4:CD8 RATIO 0.5 L 0.9-4.8
CD19% (B CELLS)" 24 H % OFLYMPHS 7-23
ABSOLUTE CD19 CT 242 CELLS/UL 105-920
CD16/56%NK CELL" 5 % OFLYMPHS 1-27
ABSOLUTE CD16/56 50 CELLS/UL 15-1080

Mitogen stimulation studies are pending.

The patient's family history is impressive and shows incomplete penetrance
with variable features on the maternal side:
Maternal grandmother (now deceased) had hypothyroidism, pernicious anemia,
pemphigoid disease, hemolytic anemia and recurrent candidiasis.
Of the 5 offspring from the maternal grandmother, (1) the patient's mother
has recurrent candidiasis; she has 3 daughters that include an unaffected
daughter, the patient, and a daughter with recurrent candidiasis and celiac
sprue.
There is a maternal uncle (2) who has recurrent candidasis; he has 2
daughters, one of which is unaffected and the other with candidal
infections, cellulitis, and possible celiac disease.
There is a maternal uncle (3) who is not affected.
There is a maternal aunt (4) who is unaffected.
There is a maternal aunt (5) who has hypothyroidism and 4 children: one
daughter who is unaffected, one daughter with celiac disease, and two sons
with both celiac disease and growth hormone deficiency.

The exam does not reveal any obvious abnormality other than boggy nasal
turbinates and dullness with scar of the right tympanic membrane.  Normal
spleen and liver size, and no lymphadenopathy.  Slightly short stature, but
consistent with family members.  Normal musculoskeletal exam and no
dysmorphic facial features.

APS type 1 genotyping was sent by Endocrinology to Athena Labs; however, the
clinical picture could also be type 2 given that there is such a strong
extended family history, and the absence of hypoparathyroidism in any family
member.

I'd appreciate any thoughts, recommendations or insights; particularly if
there is guidance about testing for APS type 2.

Teresa Tarrant, MD, FAAAAI
Assistant Professor, UNC Lineberger Cancer Center Member
Thurston Arthritis Research Center
Dept. of Medicine, Division of Rheumatology, Allergy, and Immunology
CB# 7280, 3300 Thurston Bldg.
Chapel Hill, NC  27599
(919) 843-4727
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