Immunodeficiency, and Splenomegaly

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

• Anemia
• Splenomegaly
• Immunodeficiency
• Autoimmunity
• Sepsis

SOURCES: MESH OMIM ORPHANET MENDELIAN

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

• Splenomegaly
• Immunodeficiency
• Respiratory tract infection
• Pancytopenia
• Sarcoma

SOURCES: ORPHANET OMIM MENDELIAN

• Fever
• Diarrhea
• Splenomegaly
• Immunodeficiency
• Recurrent respiratory infections

SOURCES: OMIM MENDELIAN

Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.

ACTIVATED PI3K-DELTA SYNDROME Is also known as activated pi3k-delta syndrome|senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|apds|p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency|pasli

• Splenomegaly
• Immunodeficiency
• Recurrent infections
• Recurrent respiratory infections
• Respiratory tract infection

SOURCES: ORPHANET OMIM MENDELIAN

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

• Failure to thrive
• Hepatomegaly
• Diarrhea
• Splenomegaly
• Immunodeficiency

SOURCES: OMIM ORPHANET MENDELIAN

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

• Short stature
• Failure to thrive
• Splenomegaly
• Immunodeficiency
• Pneumonia

SOURCES: OMIM ORPHANET MENDELIAN

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

• Neoplasm
• Anemia
• Hepatomegaly
• Fever
• Splenomegaly

SOURCES: OMIM MENDELIAN

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i|neutrophil cytosol factor 1, deficiency of|soc2, deficiency of|p47-phox, deficiency of|soluble oxidase component ii, deficiency of|ncf1, deficiency of|granulomatous disease, chronic, due to ncf1 defic

• Hepatomegaly
• Splenomegaly
• Immunodeficiency
• Pneumonia
• Lymphadenopathy

SOURCES: OMIM MENDELIAN

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).

ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME Is also known as acquired hbh disease|acquired hemoglobin h disease|atmds|hemoglobin h disease, acquired

• Intellectual disability
• Anemia
• Fatigue
• Splenomegaly
• Immunodeficiency

SOURCES: ORPHANET MESH OMIM MENDELIAN

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

• Neoplasm
• Anemia
• Splenomegaly
• Recurrent infections
• Thrombocytopenia

SOURCES: OMIM ORPHANET MENDELIAN