Table 2.

Primary immunodeficiencies associated with PCP.

Immunodeficiency Category (according to the Classification by the Inborn Errors of Immunity Committee 2022 [220])	Genetic Defects
I.Immunodeficiencies affecting cellular and humoral immunity:
T-B+ SCID	IL2RG, JAK3, ADA
CID generally less profound than SCID	CARD11, CD40, CD40LG, DOCK8, IKBKB, IKZF1, IL21R, MALT1, RFXANK, ZAP70
II.CID with associated or syndromic features:
DNA repair defects other than those in Category I	DNMT3B, ZBTB24
Hyper IgE syndromes (HIES)	STAT3
Defects of vitamin B12 and folate metabolism	MTHFD1, SLC46A1, TCN2
Anhidrotic ectodermodysplasia with immunodeficiency	IKBKB, IKBKG
Calcium channel defects	ORAI1
Other combined immunodeficiencies with syndromic features	IKZF3, KMT2A, SKIV2L, SP110
III.Predominantly antibody deficiencies:
Agammaglobulinemia	BTK
Common variable immune deficiency	NFKB1
IV.Diseases of immune dysregulation:
Regulatory T cell defects	CTLA4
V.Congenital defects of phagocyte number or function:
Defects of motility	CFTR
Defects of respiratory burst	CYBB, G6PD
Other non-lymphoid defects	GATA2
VI.Defects in intrinsic and innate immunity:
Predisposition to severe viral infection	NOS2
Predisposition to mucocutaneous candidiasis	IL17RA, STAT1
Other inborn errors of immunity related to leukocytes	IRF4
VII.Autoinflammatory disorders	IFIH1, IL36RN, TNFRSF1A
VIII.Complement deficiencies	C7
IX.Bone marrow failure	RTEL1, TERC, TP53

Details on genetic defects and references for PCP in patients with the genetic defects shown are provided in Supplemental Table S2. This table excludes genetic defects without reports of PCP clinical cases. SCID, severe combined immunodeficiencies; CID, combined Immunodeficiencies; CVID, common variable immune deficiency. T-B+, decreased T cell counts, and normal B cell counts but loss of function.