Immunodeficiency, and Splenomegaly

Diseases related with Immunodeficiency and Splenomegaly

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Splenomegaly that can help you solving undiagnosed cases.

Top matches:

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

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7

Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTIVATED PI3K-DELTA SYNDROME

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

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

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

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

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

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

Related symptoms:

  • Intellectual disability
  • Anemia
  • Fatigue
  • Splenomegaly
  • Immunodeficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

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

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Splenomegaly

Symptoms // Phenotype % cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory tract infection Lymphoma Autoimmunity

Rare Symptoms - Less than 30% cases

Acute leukemia Neoplasm Eczematoid dermatitis Combined immunodeficiency Failure to thrive Recurrent sinopulmonary infections Cellulitis Thrombocytopenia Recurrent infections Lymphoproliferative disorder Chronic diarrhea Pancytopenia Recurrent respiratory infections Diarrhea Fever Severe combined immunodeficiency Recurrent Burkholderia cepacia infections Neutropenia Bruising susceptibility Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Decreased activity of NADPH oxidase Recurrent Serratia marcescens infections Abnormal bleeding Dyspnea Negative nitroblue tetrazolium reduction test Intellectual disability Fatigue Recurrent Klebsiella infections Hemoglobin H Myelodysplasia Rheumatoid arthritis Lung adenocarcinoma Lymphocytosis Cellular immunodeficiency Chronic lymphatic leukemia B-cell lymphoma Hodgkin lymphoma Hyperthyroidism Systemic lupus erythematosus Microcytic anemia Neurodegeneration Leukemia Arthritis Recurrent Staphylococcus aureus infections Reduced alpha/beta synthesis ratio Abnormal hemoglobin Hypochromic microcytic anemia Recurrent Aspergillus infections Hemophagocytosis Lymphadenitis Coombs-positive hemolytic anemia Panhypogammaglobulinemia Recurrent ear infections Bronchiectasis IgA deficiency Myalgia Kaposi's sarcoma Sarcoma Short stature Autoimmune neutropenia Interstitial pneumonitis B lymphocytopenia Decrease in T cell count Autoimmune hemolytic anemia Sepsis Recurrent candida infections Asthma Discoid lupus rash Recurrent pneumonia Liver abscess Rectal abscess Recurrent bacterial skin infections Granulomatosis Osteomyelitis Recurrent skin infections T-cell lymphoma Eczema Impaired T cell function Aplastic anemia Uveitis Ascites Hepatosplenomegaly Defective B cell activation Decreased T cell activation Non-Hodgkin lymphoma


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