Phenocopies of primary immunodeficiency

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Immunodeficiency Main Page




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: Sabawoon Mirwais, M.B.B.S, M.D.[2], Ali Akram, M.B.B.S.[3], Anmol Pitliya, M.B.B.S. M.D.[4]


These disorders behave and present like primary PIDs, but they are acquired secondary to the occurrence of autoantibodies or somatic mutations.[1]These conditions are not caused by inherited genetic mutations, but instead are acquired during life.


Phenocopies of PID
Associated with somatic mutations
Associated with auto-antibodies
Chronic mucocutaneous candidiasis
RALD (RAS-associated autoimmune leukoproliferative disease)
Adult-onset immunodeficiency with susceptibility to mycobacteria
Cryopyrinopathy (Muckle-Wells Syndrome)
Recurrent skin infections
Hypereosinophilic syndrome due to somatic mutations in STAT5b
Pulmonary alveolar proteinosis
Acquired angioedema
Atypical hemolytic uremic syndrome
Thymoma with hypogammaglobulinemia

Autoimmune Lymphoproliferative Syndrome due to Somatic FAS Mutations (ALPS-SFAS)

RAS-Associated Autoimmune Leukoproliferative Disease (RALD)

Cryopyrinopathy (Muckle-Wells Syndrome)

Hypereosinophilic Syndrome due to Somatic Mutations in STAT5b

Chronic Mucocutaneous Candidiasis

Adult-Onset Immunodeficiency with Susceptibility to Mycobacteria

Recurrent Skin Infections

Pulmonary Alveolar Proteinosis

For more information on pulmonary alveolar proteinosis, click here.

Acquired Angioedema

Atypical Hemolytic Uremic Syndrome (aHUS)

Thymoma with Hypogammaglobulinemia (Good Syndrome)


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