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Table 6. Clinical and Laboratory Manifestations of Selected
Combined Immunodeficiencies and Syndromes
Gene defect(s)
or disease(s) Clinical features Laboratory features
Ca/Mg channel
defects (MAGT1,
ORAI1, STIM1)
Severe and opportunistic
infections, autoimmune
disease, anhydrotic
ectodermal dysplasia,
myopathy
Normal T-cell numbers,
↓ T-cell function
CARD11 Opportunistic infections Hypogammaglobulinemia,
normal lymphocyte numbers,
↓ T-cell function
CD27 Persistent symptomatic
EBV viremia, recurrent
infection
Hypogammaglobulinemia,
impaired specific antibody
response, decreased mitogen
proliferation
CD3G Variable severity, SCID
or mild phenotype,
autoimmune hemolytic
anemia
Modest ↓ CD8 T cells,
↓ CD45RA
+
cells,
↓ TCR expression, variable
immunoglobulins
CD8 Recurrent bacterial
respiratory tract
infections, bronchiectasis
Absent CD8 T cells,
↑ double-negative T cells
CTLA4 Autosomal dominant,
lymphoproliferation,
organ infiltration,
lymphoma, respiratory
tract infections
↓ CD4 T cells, ↓ B cells,
hypogammaglobulinemia,
↑ T-cell proliferation
CTPS1 Disseminated infections
with EBV and varicella-
zoster virus, encapsulated
bacteria, B-cell lymphoma
Lymphopenia, ↓ naïve CD4
cells, ↓ IgG
2
, ↓ pneumococcal
response, ↓ memory B cells,
absent invariant NK T cells,
↓ PHA proliferation
FOXN1 Athymia, reduced T-cell
numbers, absence of hair,
and nail dysplasia
↓ Naïve T cells; ↑ double
negative (CD4
–
CD8)
–
T cells
IKZF1 Prematurity,
polyhydramnios with
fetal hydrops, neonatal
pancytopenia
Normal lymphocyte numbers,
absent B cells, ↓ NK cells,
↓ CD45RO
+
T cells, absent
mitogen proliferations, ↓ IgG
