Table 2.

Primary T cell immunodeficiency syndromes commonly referred for HCT

Syndrome	Mutation	Clinical features	Laboratory features
Omenn’s	RAG1 or RAG2	HSM Rash Adenopathy	Eosinophilia Lymphocytosis
ZAP70	ZAP70		CD8+ lymphopenia High IgE levels
HIGM	CD40L or CD40	X-linked Pyogenic infection Sclerosing cholangitis	High IgM & low IgG levels
Common Variable Immunodeficiency	Unknown	Autoimmunity Allergy	Low IgG
Cartilage Hair Hypoplasia	endoribonuclease RMRP	Dwarfism Hypoplastic hair growth
Wiskott Aldrich	WASP	Eczema	Thrombocytopenia Small platelet size
IPEX	FOXP3	X-linked Diabetes Diarrhea Rash
XLP	SH2D1A	X-linked EBV- lymphoproliferative disease	Hypogammaglobulinemia
Bare Lymphocyte syndrome (Class II HLA deficiency)	RFXANK, RFX5, RFSAP, CIITA	Pulmonary infection Diarrhea Hepatitis	Hypogammaglobulinemia CD4 lymphopenia Absent antigen-specific T cell responses
Class I HLA deficiency	TAP1 or TAP2		CD8 lymphopenia
DiGeorge syndrome	10p13 or 22q11.2	Hypocalcemia Cardiac anomolies	CD3 lymphopenia Elevated IgE

Abbreviations: HIGM, Hyper IgM; HLA, Human leukocyte antigen; HSM, hepatosplenomegaly; IPEX, Immunodeficiency-polyendocrinopathy-enteropathy X-linked; XLP, X-linked lymphoproliferative