Phenocopies of primary immunodeficiency

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Classification
Immunodeficiency Affecting Cellular and Humoral Immunity
Combined Immunodeficiency
Predominantly Antibody Deficiency
Diseases of Immune Dysregulation
Congenital Defects of Phagocytes
Defects in Intrinsic and Innate Immunity
Auto-inflammatory Disorders
Complement Deficiencies
Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Classification

Phenocopies of PID

Associated with Somatic Mutations

Associated with Auto-Antibodies

ALPS-SFAS

Chronic mucocutaneous candidiasis

RALD(RAS-associated autoimmune leukoproliferative disease)

Adult-onset immunodeficiency with susceptibility to mycobacteria

Cryopyrinopathy(Muckle-Wells Syndrome)

Recurrentt skin infections

Hypereosinophilic syndrome due to somatic mutations in STAT5b

Pulmonary alveolar proteinosis

Acquired angiooedema

Atypical Hemolytic Uremic Syndrome

Thymoma with hypogammaglobulinemia

ALPS-SFAS

• Heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes.
• Manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias.
• Patients with mutations have developed B and T-cell lymphomas.
• Peripheral blood analysis in patients has demonstrated hypergammaglobulinemia along with increased numbers of B and T lymphocytes.
• Some studies have demonstrated that ALPS is compatible with long-term survival.

Types of mutation

• Type IA is caused by heterozygous mutation in the FAS gene (TNFRSF6, or CD95)
• Type Ib is caused by heterozygous mutation in the FAS ligand (FASL) gene (TNFSF6 or CD95L)