RAG1
Omenn syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency, Combined cellular and humoral immune defects with granulomas
AR
RAC2
Neutrophil immunodeficiency syndrome
AD
RAB27A
Griscelli syndrome, Elejalde syndrome
AR
PTPRC
Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positive
AR
PSTPIP1
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
AD
PSMB8
Nakajo-Nishimura syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Autoinflammation, lipodystrophy, and dermatosis syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
AR
PSMB4
PSENEN
Acne inversa, familial, 2
AD
PRKDC
Immunodeficiency
AR
PRKCD
Autoimmune lymphoproliferative syndrome type III
AR
PRG4
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
AR
PRF1
Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis
AR
POMP
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
AR
POLE2
Combined immunodeficiency
AR
POLE
Colorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
AD/AR
POLD1
Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, Immunodeficiency
AD/AR
POLA1
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, Neurodevelopmental disorder
PNP
Purine nucleoside phosphorylase deficiency
AR
PMS2*
Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
PLCG2
Familial cold autoinflammatory syndrome 3 (PLAID), Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
AD
PIK3R1
Agammaglobulinemia, SHORT syndrome
AD/AR
PIK3CD*
Immunodeficiency
AD
PIH1D3
Ciliary dyskinesia, primary, 36
XL
PIGA*
Multiple congenital anomalies-hypotonia-seizures syndrome
XL
PGM3
Immunodeficiency 23
AR
