Table 7.

Warning signs of primary immunodeficiency for hematologists.

Clinical events	PID	Laboratory tests
Thrombocytopenia with small-sized platelets	Wiskott-Aldrich syndrome (WAS) Other symptoms: eczema and recurrent infections X-linked thrombocytopenia	CBC including number and size of platelets (small-sized platelets); CMI; AMI
Autoimmune cytopenias (autoimmune anemia, thrombocytopenia and neutropenia)	Common variable immunodeficiency Other characteristics: recurrent infections	AMI, ANA
Fever, splenomegaly without evidence of malignancy, cytopenias	Hemophagocytic lymphohistiocytosis (HLH)	CBC, triglycerides, ferritin, EBNA (Epstein-Barr nuclear antigen)
Lymphadenopathy + splenomegaly (excluding neoplasms and infections)	Autoimmune lymphoproliferative disease Apoptosis defects	Increased number of alpha/beta double-negative T cells (CD3 + CD4−CD8−), ANA, CRP
Quantitative and qualitative neutrophil defects (neutropenia and neutrophilia)	Neutropenias Chronic granulomatous disease (CGD)	P
	Leukocyte adhesion deficiency	Leukocytosis, CD18+ cells
	Partial albinism, Chediak-Higashi or Griscelli syndromes	Increased cytoplasm granules

Adapted from Costa-Carvalho et al.⁵