24
Diagnosis
Table 7B. Examples of IEI Associated With Autoimmune
Cytopenias
IEI
Associated
gene Prevalence of autoimmune cytopenias
CVID Various
(e.g.,
NFKB1,
NFKB2)
10%–18% prevalence
ITP > autoimmune hemolytic anemia
(AIHA) > autoimmune neutropenia (AN),
first episode of immune cytopenia may
occur before CVID diagnosis
ALPS TNFRSF6,
TNFSF6,
CASP8,
CASP10
52%–70% prevalence
AIHA > ITP > AN
Multilineage cytopenias > single lineage
cytopenias
Immune polyendocrinopathy
X-linked
FOXP3 22%–42% prevalence
Hyper IgM syndrome CD40LG,
CD40,
AID, UNG
Immune cytopenias may occur.
Neutropenia is common in hyper-IgM
due to defects in CD40LG/CD40
CTLA-4 haploinsufficiency CTLA-4 62%–68% prevalence
ITP = AIHA > AN
LRBA deficiency LRBA 70% prevalence
Activated PI3K-delta
syndrome
PIK3CD,
PIK3R1
17%–30% prevalence
Late onset of cytopenias compared with
other disease manifestations
XMEN MAGT1 35% prevalence
Kabuki syndrome KMT2D,
KDM6A
2%–8% prevalence
ITP > AIHA
STAT1 gain of function (GOF) STAT1 4% prevalence
STAT3 GOF STAT3 67% prevalence
Multilineage cytopenias > single lineage
cytopenias
Wiskott-Aldrich syndrome WAS AIHA > ITP > AN
Onset in infancy
Differentiate ITP vs baseline
microthrombocytopenia
