21
Table 6. Clinical and Laboratory Manifestations of Selected
Combined Immunodeficiencies and Syndromes
(cont'd)
Gene defect(s)
or disease(s) Clinical features Laboratory features
RHOH deficiency Warts, molluscum,
granulomatosis, Burkitt
lymphoma
↓ CD4 T cells, normal
immunoglobulins and antibody
STAT5B Growth failure,
ichthyosis/eczema,
diarrhea ± bacterial or
opportunistic infections,
autoimmune disease
↓ Insulin-like growth factor,
↑ growth hormone, ↓ T cells,
especially ↓ Treg cells
Trisomy 21 Cognitive impairment,
characteristic facies,
cardiac defects,
gastrointestinal disorders,
hypothyroidism,
recurrent respiratory tract
infections
Variable T- and B-cell
lymphopenia, ↓ naïve T and
B cells, IGGSD, poor vaccine
response, ↓ in vitro T-cell
proliferation, ↓ neutrophil
chemotaxis
TRNT1 Sideroblastic anemia,
periodic fevers,
developmental delay,
sensorineural hearing loss,
cardiomyopathy, CNS
abnormalities
Variable ↓ immunoglobulins,
↓ B cells, progressive ↓ T cells
and NK cells
ZAP70 Variable severity, SCID,
and opportunistic
infections, failure to
thrive, mild phenotypes
↓ CD8 T cells, normal CD4
cells, ↓ T-cell proliferation,
hypogammaglobulinemia,
↓ antibody
