54
Classification of PPID
FHL syndromes without hypopigmentation
FHL1 (Unknown defect)
Perforin deficiency (FHL2) PRF1
UNC13D/Munc 13-4 deficiency (FHL3) UNC13D
Syntaxin-11 deficiency (FHL4) STX11
STXBP2/Munc 18-2 deficiency (FHL5) STXBP2
Lymphoproliferative syndromes
XLP1 SH2D1A
X-linked lymphoproliferative syndrome type 2 XIAP
Lymphoproliferative syndrome 1 ITK
Lymphoproliferative syndrome 2 CD27
Syndromes with autoimmunity
ALPSs
Fas defect: ALPS-FAS and sFAS (somatic) TNFRSF6
Fas ligand defect: ALPS-FASLG TNFSF6
Caspase 10 defect: ALPS-CASP10 CASP10
Unknown defect: ALPS-U
ALPS-related disorders
Caspase 8 deficiency syndrome (CEDS) CASP8
K-Ras defect KRAS
N-Ras defect NRAS
Fas-associated via death domain defect (FADD) deficiency FADD
CARD11 gain-of-function mutations CARD11
STAT3 gain-of-function mutations STAT3
APECED AIRE
IPEX syndrome FOXP3
IPEX-like disorders, STAT1/STAT3 gain-of-function
mutations
STAT1/STAT3
CD25 defect IL2RA
E3 ubiquitin protein ligase defect ITCH
Cytotoxic T lymphocyte–associated protein 4 defect CTLA4
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
