58
Classification of PPID
FCAS1
FCAS2 NLRP12
Noninflammasome defects
TNF receptor–associated periodic fever syndrome
(TRAPS)
TNFRSF1A
PAPA syndrome PSTPIP1
Blau syndrome NOD2
CRMO dyserythropoietic anemia (Majeed syndrome) LPIN2
DIRA IL1RN
Deficiency of IL-36 receptor antagonist with
generalized pustular psoriasis (DITRA)
IL36RN
SLC29A3 deficiency SLC29A3
CARD14-mediated psoriasis (CAMPS) CARD14
Cherubism SH3BP2
Chronic atypical neutrophilic dermatosis with
lipodystrophy and increased temperature (CANDLE)
syndrome or Nakajo-Nishimura syndrome (NNS),
proteasome subunit, β type, 8 defect
PSMB8
PLAID PLCG2
Stimulator of interferon genes (STING) defect TMEM173
Adenosine deaminase 2 defects ADA2
Early-onset inflammatory bowel disease IL-10, IL10RA, IL10RB
Periodic fever associated with aphthous stomatitis,
pharyngitis, and cervical adenitis (PFAPA) syndrome
Unknown
Complement deficiencies
C1
C1q α C1QA
C1q β C1QB
C1q γ C1QC
C1r C1R
C1s C1S
Table 11. Classification of Primary Immunodeficiencies
a
(cont'd)
Defect or disease(s) Gene(s)
