Immunodeficiency, and Bronchiectasis

Diseases related with Immunodeficiency and Bronchiectasis

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

Top matches:

IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

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

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id|anhidrotic ectodermal dysplasia with immunodeficiency|eda-id

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Other less relevant matches:

Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).

COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY Is also known as il21r immunodeficiency

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Abnormality of the liver


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

X-LINKED HYPER-IGM SYNDROME Is also known as hyper-igm syndrome 4|hyper-igm syndrome type 1|hyper-igm syndrome due to cd40l deficiency|higm1|xhigm|hyper-igm syndrome due to cd40 ligand deficiency

Related symptoms:

  • Immunodeficiency
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent upper respiratory tract infections
  • Myelodysplasia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED HYPER-IGM SYNDROME

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY

Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 Is also known as bls, type i|bare lymphocyte syndrome type 1|hla class i deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Abnormal lung morphology
  • Bronchiectasis
  • Skin ulcer


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Top 5 symptoms//phenotypes associated to Immunodeficiency and Bronchiectasis

Symptoms // Phenotype % cases
Recurrent infections Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Recurrent sinopulmonary infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent bacterial infections Decreased antibody level in blood Lymphoma Lymphopenia Failure to thrive Lymphadenopathy Respiratory tract infection

Rare Symptoms - Less than 30% cases

Chronic diarrhea Anemia Recurrent infection of the gastrointestinal tract Vasculitis B-cell lymphoma Gastritis Recurrent upper respiratory tract infections Growth delay Abnormal lung morphology Chronic lung disease Inflammation of the large intestine Arthritis Splenomegaly Autoimmune hemolytic anemia Ectodermal dysplasia Autoimmunity Neurodevelopmental delay Recurrent aphthous stomatitis Allergy Bloody diarrhea Recurrent viral infections Abnormality of the gastrointestinal tract Esophagitis Gingivitis Clubbing Chronic lymphatic leukemia Recurrent pneumonia Cheilitis Hepatosplenomegaly Mastoiditis Vomiting Skin ulcer Skin rash Ectopia lentis Chronic otitis media Emphysema Combined immunodeficiency Severe combined immunodeficiency Chronic sinusitis Recurrent bronchitis Inflammatory abnormality of the skin Nasal polyposis Bronchiolitis Granulomatosis Meningitis Decreased proportion of CD4-positive T cells Osteoporosis Recurrent ear infections Dysgammaglobulinemia Intractable diarrhea Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Pulmonary insufficiency Recurrent skin infections Cellulitis Cirrhosis Recurrent mycobacterium avium complex infections Impaired memory B cell generation Increased IgM level IgG deficiency IgA deficiency Sepsis Hemolytic anemia Abnormality of the liver Hepatic failure Delayed skeletal maturation Papilloma Abnormal facial shape Impaired Ig class switch recombination Absence of lymph node germinal center Autoimmune thrombocytopenia Osteomyelitis Myelodysplasia Lymphoproliferative disorder Recurrent sinusitis Hodgkin lymphoma Attention deficit hyperactivity disorder Hyperactivity Global developmental delay Seizures Chronic hepatitis due to cryptosporidium infection Cholangitis Enlarged tonsils


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